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- [21] BIALLELIC VARIANTS IN GPX4 ARE ASSOCIATED WITH A SPECTRUM OF SKELETAL ANOMALIES, HYPOTONIA, AND NEURODEGENERATION AND MAY INCREASE SUSCEPTABILITY TO FERROPTOSISJOURNAL OF INVESTIGATIVE MEDICINE, 2022, 70 (01) : 270 - 271论文数: 引用数: h-index:机构:Saneto, R.论文数: 0 引用数: 0 h-index: 0机构: Seattle Childrens Hosp, Seattle, WA USA Univ Washington, Seattle, WA 98195 USA Univ Calif San Diego, La Jolla, CA 92093 USAFriedman, J.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Diego, La Jolla, CA 92093 USA Rady Childrens Inst Genom Med, San Diego, CA USA Univ Calif San Diego, La Jolla, CA 92093 USALiu, H.论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, New York, NY USA Univ Calif San Diego, La Jolla, CA 92093 USA论文数: 引用数: h-index:机构:
- [22] Common Variants in MAGI2 Gene Are Associated with Increased Risk for Cognitive Impairment in Schizophrenic PatientsPLOS ONE, 2012, 7 (05):Koide, Takayoshi论文数: 0 引用数: 0 h-index: 0机构: Nagoya Univ, Dept Psychiat, Grad Sch Med, Nagoya, Aichi 4648601, Japan Japan Sci & Technol Agcy, CREST, Tokyo, Japan Nagoya Univ, Dept Psychiat, Grad Sch Med, Nagoya, Aichi 4648601, JapanBanno, Masahiro论文数: 0 引用数: 0 h-index: 0机构: Nagoya Univ, Dept Psychiat, Grad Sch Med, Nagoya, Aichi 4648601, Japan Japan Sci & Technol Agcy, CREST, Tokyo, Japan Nagoya Univ, Dept Psychiat, Grad Sch Med, Nagoya, Aichi 4648601, JapanAleksic, Branko论文数: 0 引用数: 0 h-index: 0机构: Nagoya Univ, Dept Psychiat, Grad Sch Med, Nagoya, Aichi 4648601, Japan Japan Sci & Technol Agcy, CREST, Tokyo, Japan Nagoya Univ, Dept Psychiat, Grad Sch Med, Nagoya, Aichi 4648601, JapanYamashita, Saori论文数: 0 引用数: 0 h-index: 0机构: Nagoya Univ, Dept Psychiat, Grad Sch Med, Nagoya, Aichi 4648601, Japan Japan Sci & Technol Agcy, CREST, Tokyo, Japan Nagoya Univ, Dept Psychiat, Grad Sch Med, Nagoya, Aichi 4648601, JapanKikuchi, Tsutomu论文数: 0 引用数: 0 h-index: 0机构: Nagoya Univ, Dept Psychiat, Grad Sch Med, Nagoya, Aichi 4648601, Japan Japan Sci & Technol Agcy, CREST, Tokyo, Japan Nagoya Univ, Dept Psychiat, Grad Sch Med, Nagoya, Aichi 4648601, JapanKohmura, Kunihiro论文数: 0 引用数: 0 h-index: 0机构: Nagoya Univ, Dept Psychiat, Grad Sch Med, Nagoya, Aichi 4648601, Japan Japan Sci & Technol Agcy, CREST, Tokyo, Japan Nagoya Univ, Dept Psychiat, Grad Sch Med, Nagoya, Aichi 4648601, JapanAdachi, Yasunori论文数: 0 引用数: 0 h-index: 0机构: Nagoya Univ, Dept Psychiat, Grad Sch Med, Nagoya, Aichi 4648601, Japan Japan Sci & Technol Agcy, CREST, Tokyo, Japan Nagoya Univ, Dept Psychiat, Grad Sch Med, Nagoya, Aichi 4648601, JapanKawano, Naoko论文数: 0 引用数: 0 h-index: 0机构: Nagoya Univ, Dept Psychiat, Grad Sch Med, Nagoya, Aichi 4648601, Japan Japan Sci & Technol Agcy, CREST, Tokyo, Japan Nagoya Univ, Dept Psychiat, Grad Sch Med, Nagoya, Aichi 4648601, JapanKushima, Itaru论文数: 0 引用数: 0 h-index: 0机构: Nagoya Univ, Dept Psychiat, Grad Sch Med, Nagoya, Aichi 4648601, Japan Japan Sci & Technol Agcy, CREST, Tokyo, Japan Nagoya Univ, Dept Psychiat, Grad Sch Med, Nagoya, Aichi 4648601, JapanNakamura, Yukako论文数: 0 引用数: 0 h-index: 0机构: Nagoya Univ, Dept Psychiat, Grad Sch Med, Nagoya, Aichi 4648601, Japan Japan Sci & Technol Agcy, CREST, Tokyo, Japan Nagoya Univ, Dept Psychiat, Grad Sch Med, Nagoya, Aichi 4648601, JapanOkada, Takashi论文数: 0 引用数: 0 h-index: 0机构: Nagoya Univ, Dept Psychiat, Grad Sch Med, Nagoya, Aichi 4648601, Japan Japan Sci & Technol Agcy, CREST, Tokyo, Japan Nagoya Univ, Dept Psychiat, Grad Sch Med, Nagoya, Aichi 4648601, Japan论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:Yasuda, Yuka论文数: 0 引用数: 0 h-index: 0机构: Osaka Univ, Grad Sch Med, Dept Psychiat, Osaka, Japan Japan Sci & Technol Agcy, CREST, Tokyo, Japan Nagoya Univ, Dept Psychiat, Grad Sch Med, Nagoya, Aichi 4648601, Japan论文数: 引用数: h-index:机构:Inada, Toshiya论文数: 0 引用数: 0 h-index: 0机构: Seiwa Hosp, Inst Neuropsychiat, Dept Psychiat, Tokyo, Japan Nagoya Univ, Dept Psychiat, Grad Sch Med, Nagoya, Aichi 4648601, JapanUjike, Hiroshi论文数: 0 引用数: 0 h-index: 0机构: Okayama Univ, Grad Sch Med & Dent, Dept Neuropsychiat, Okayama, Japan Nagoya Univ, Dept Psychiat, Grad Sch Med, Nagoya, Aichi 4648601, JapanIidaka, Tetsuya论文数: 0 引用数: 0 h-index: 0机构: Nagoya Univ, Dept Psychiat, Grad Sch Med, Nagoya, Aichi 4648601, Japan Japan Sci & Technol Agcy, CREST, Tokyo, Japan Nagoya Univ, Dept Psychiat, Grad Sch Med, Nagoya, Aichi 4648601, JapanSuzuki, Michio论文数: 0 引用数: 0 h-index: 0机构: Toyama Univ, Dept Neuropsychiat, Grad Sch Med & Pharmaceut Sci, Toyama 930, Japan Nagoya Univ, Dept Psychiat, Grad Sch Med, Nagoya, Aichi 4648601, JapanTakeda, Masatoshi论文数: 0 引用数: 0 h-index: 0机构: Osaka Univ, Grad Sch Med, Dept Psychiat, Osaka, Japan Kanazawa Univ, Mol Res Ctr Childrens Mental Dev, United Grad Sch Child Dev, Osaka Univ, Osaka, Japan Hamamatsu Univ Grad Sch Med, Osaka, Japan Nagoya Univ, Dept Psychiat, Grad Sch Med, Nagoya, Aichi 4648601, Japan论文数: 引用数: h-index:机构:Ozaki, Norio论文数: 0 引用数: 0 h-index: 0机构: Nagoya Univ, Dept Psychiat, Grad Sch Med, Nagoya, Aichi 4648601, Japan Japan Sci & Technol Agcy, CREST, Tokyo, Japan Nagoya Univ, Dept Psychiat, Grad Sch Med, Nagoya, Aichi 4648601, Japan
- [23] Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, craniofacial and digital abnormalitiesEUROPEAN JOURNAL OF HUMAN GENETICS, 2023, 31 : 208 - 208Cali, Elisa论文数: 0 引用数: 0 h-index: 0机构: UCL, Dept Neuromuscular Dis, London, England UCL, Dept Neuromuscular Dis, London, EnglandSuri, Mohnish论文数: 0 引用数: 0 h-index: 0机构: Nottingham Univ Hosp NHS Trust, Nottingham Clin Genet Serv, City Hosp Campus, Nottingham, England UCL, Dept Neuromuscular Dis, London, EnglandScala, Marcello论文数: 0 引用数: 0 h-index: 0机构: Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, Genoa, Italy UCL, Dept Neuromuscular Dis, London, EnglandFerla, Matteo论文数: 0 引用数: 0 h-index: 0机构: NIHR Biomed Res Ctr, Oxford, Oxon, England UCL, Dept Neuromuscular Dis, London, EnglandHoulden, Henry论文数: 0 引用数: 0 h-index: 0机构: UCL, Dept Neuromuscular Dis, London, England UCL, Dept Neuromuscular Dis, London, EnglandMaroofian, Reza论文数: 0 引用数: 0 h-index: 0机构: UCL, Dept Neuromuscular Dis, London, England UCL, Dept Neuromuscular Dis, London, England
- [24] ALZHEIMER'S RISK FACTOR GENETIC VARIANTS ARE ASSOCIATED WITH MILD COGNITIVE IMPAIRMENTGERONTOLOGIST, 2013, 53 : 208 - 208Whitehead, B.论文数: 0 引用数: 0 h-index: 0机构: Univ Alberta, Edmonton, AB, Canada Univ Alberta, Edmonton, AB, CanadaDeCarlo, C.论文数: 0 引用数: 0 h-index: 0机构: Univ Victoria, Victoria, BC, Canada Univ Alberta, Edmonton, AB, CanadaMacDonald, S. W.论文数: 0 引用数: 0 h-index: 0机构: Univ Victoria, Victoria, BC, Canada Univ Alberta, Edmonton, AB, CanadaDixon, R. A.论文数: 0 引用数: 0 h-index: 0机构: Univ Alberta, Edmonton, AB, Canada Univ Alberta, Edmonton, AB, Canada
- [25] Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalitiesGENETICS IN MEDICINE, 2023, 25 (01) : 135 - 142Cali, Elisa论文数: 0 引用数: 0 h-index: 0机构: UCL, Dept Neuromuscular Dis, UCL Queen Sq Inst Neurol, Gower St, London WC1E 6BT, England UCL, Dept Neuromuscular Dis, UCL Queen Sq Inst Neurol, Gower St, London WC1E 6BT, EnglandSuri, Mohnish论文数: 0 引用数: 0 h-index: 0机构: Nottingham Univ Hosp NHS Trust, Nottingham Clin Genet Serv, City Hosp Campus, Nottingham, England UCL, Dept Neuromuscular Dis, UCL Queen Sq Inst Neurol, Gower St, London WC1E 6BT, EnglandScala, Marcello论文数: 0 引用数: 0 h-index: 0机构: Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, Genoa, Italy IRCCS Ist Giannina Gaslini, Pediat Neurol & Muscular Dis Unit, Genoa, Italy UCL, Dept Neuromuscular Dis, UCL Queen Sq Inst Neurol, Gower St, London WC1E 6BT, EnglandFerla, Matteo P.论文数: 0 引用数: 0 h-index: 0机构: NIHR, Oxford Biomed Res Ctr, Genom Med Theme, Oxford, Oxon, England Univ Oxford, Wellcome Ctr Human Genet, Oxford, Oxon, England UCL, Dept Neuromuscular Dis, UCL Queen Sq Inst Neurol, Gower St, London WC1E 6BT, EnglandAlavi, Shahryar论文数: 0 引用数: 0 h-index: 0机构: UCL, Dept Neuromuscular Dis, UCL Queen Sq Inst Neurol, Gower St, London WC1E 6BT, England Univ Isfahan, Fac Biol Sci & Technol, Dept Cell & Mol Biol & Microbiol, Esfahan, Iran Palindrome, Esfahan, Iran UCL, Dept Neuromuscular Dis, UCL Queen Sq Inst Neurol, Gower St, London WC1E 6BT, EnglandFaqeih, Eissa Ali论文数: 0 引用数: 0 h-index: 0机构: King Fahad Med, Sect Med Genet, Childrens Specialist Hosp, Riyadh, Saudi Arabia UCL, Dept Neuromuscular Dis, UCL Queen Sq Inst Neurol, Gower St, London WC1E 6BT, EnglandBijlsma, Emilia K.论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ Med Ctr, Dept Clin Genet, Leiden, Netherlands UCL, Dept Neuromuscular Dis, UCL Queen Sq Inst Neurol, Gower St, London WC1E 6BT, EnglandWigby, Kristen M.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Diego, Dept Pediat, Div Med Genet, San Diego, CA 92103 USA Rady Childrens Hosp, San Diego, CA USA UCL, Dept Neuromuscular Dis, UCL Queen Sq Inst Neurol, Gower St, London WC1E 6BT, EnglandBaralle, Diana论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Southampton NHS Fdn Trust, Princess Anne Hosp, Wessex Clin Genet Serv, Southampton, Hants, England Univ Southampton, Southampton Gen Hosp, Fac Med, Southampton, Hants, England UCL, Dept Neuromuscular Dis, UCL Queen Sq Inst Neurol, Gower St, London WC1E 6BT, EnglandMehrjardi, Mohammad Y., V论文数: 0 引用数: 0 h-index: 0机构: Shahid Sadoughi Univ Med Sci, Med Genet Res Ctr, Yazd, Iran UCL, Dept Neuromuscular Dis, UCL Queen Sq Inst Neurol, Gower St, London WC1E 6BT, EnglandSchwab, Jennifer论文数: 0 引用数: 0 h-index: 0机构: Brown Univ, Hasbro Childrens Hosp, Rhode Isl Hosp, Warren Alpert Med Sch, Providence, RI USA UCL, Dept Neuromuscular Dis, UCL Queen Sq Inst Neurol, Gower St, London WC1E 6BT, EnglandPlatzer, Konrad论文数: 0 引用数: 0 h-index: 0机构: Univ Leipzig Med Ctr, Inst Human Genet, Leipzig, Germany UCL, Dept Neuromuscular Dis, UCL Queen Sq Inst Neurol, Gower St, London WC1E 6BT, EnglandSteindl, Katharina论文数: 0 引用数: 0 h-index: 0机构: Univ Zurich, Inst Med Genet, Zurich, Switzerland UCL, Dept Neuromuscular Dis, UCL Queen Sq Inst Neurol, Gower St, London WC1E 6BT, EnglandHashem, Mais论文数: 0 引用数: 0 h-index: 0机构: King Faisal Specialist Hosp & Res Ctr, Ctr Genom Med, Dept Translat Genom, Riyadh, Saudi Arabia UCL, Dept Neuromuscular Dis, UCL Queen Sq Inst Neurol, Gower St, London WC1E 6BT, EnglandJones, Marilyn论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Diego, Dept Pediat, Div Med Genet, San Diego, CA 92103 USA Rady Childrens Hosp, San Diego, CA USA UCL, Dept Neuromuscular Dis, UCL Queen Sq Inst Neurol, Gower St, London WC1E 6BT, EnglandNiyazov, Dmitriy M.论文数: 0 引用数: 0 h-index: 0机构: Ochsner Hlth Syst, Dept Pediat, Sect Med Genet, New Orleans, LA USA Univ Queensland, New Orleans, LA USA UCL, Dept Neuromuscular Dis, UCL Queen Sq Inst Neurol, Gower St, London WC1E 6BT, EnglandJacober, Jennifer论文数: 0 引用数: 0 h-index: 0机构: Ochsner Hlth Syst, Dept Pediat, Sect Med Genet, New Orleans, LA USA Univ Queensland, New Orleans, LA USA UCL, Dept Neuromuscular Dis, UCL Queen Sq Inst Neurol, Gower St, London WC1E 6BT, EnglandLittlejohn, Rebecca Okashah论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Pediat & Mol & Human Genet, San Antonio, TX USA UCL, Dept Neuromuscular Dis, UCL Queen Sq Inst Neurol, Gower St, London WC1E 6BT, EnglandWeis, Denisa论文数: 0 引用数: 0 h-index: 0机构: Johannes Kepler Univ Linz, Dept Med Genet, Kepler Univ Hosp Med, Campus 4, Linz, Austria UCL, Dept Neuromuscular Dis, UCL Queen Sq Inst Neurol, Gower St, London WC1E 6BT, EnglandZadeh, Neda论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Orange Cty, Orange, CA 92668 USA Genet Ctr, Orange, CA USA UCL, Dept Neuromuscular Dis, UCL Queen Sq Inst Neurol, Gower St, London WC1E 6BT, EnglandRodan, Lance论文数: 0 引用数: 0 h-index: 0机构: Boston Childrens Hosp, Dept Neurol, Boston, MA USA Boston Childrens Hosp, Div Genet & Genom, Boston, MA USA UCL, Dept Neuromuscular Dis, UCL Queen Sq Inst Neurol, Gower St, London WC1E 6BT, EnglandGoldenberg, Alice论文数: 0 引用数: 0 h-index: 0机构: Normandie Univ, Dept Genet, UNIROUEN, CHU Rouen,Inserm U1245,FHU G4 Genom, Rouen, France Normandie Univ, Reference Ctr Dev Disorders, UNIROUEN, CHU Rouen,Inserm U1245,FHU G4 Genom, Rouen, France UCL, Dept Neuromuscular Dis, UCL Queen Sq Inst Neurol, Gower St, London WC1E 6BT, EnglandLecoquierre, Francois论文数: 0 引用数: 0 h-index: 0机构: Normandie Univ, Dept Genet, UNIROUEN, CHU Rouen,Inserm U1245,FHU G4 Genom, Rouen, France Normandie Univ, Reference Ctr Dev Disorders, UNIROUEN, CHU Rouen,Inserm U1245,FHU G4 Genom, Rouen, France UCL, Dept Neuromuscular Dis, UCL Queen Sq Inst Neurol, Gower St, London WC1E 6BT, EnglandDutra-Clarke, Marina论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Los Angeles, David Geffen Sch Med, Dept Pediat, Div Genet, Los Angeles, CA USA UCL, Dept Neuromuscular Dis, UCL Queen Sq Inst Neurol, Gower St, London WC1E 6BT, EnglandHorvath, Gabriella论文数: 0 引用数: 0 h-index: 0机构: BC Childrens Hosp, BC Childrens Hosp Res Inst, Vancouver, BC, Canada Univ British Columbia, Dept Pediat, Vancouver, BC, Canada UCL, Dept Neuromuscular Dis, UCL Queen Sq Inst Neurol, Gower St, London WC1E 6BT, EnglandYoung, Dana论文数: 0 引用数: 0 h-index: 0机构: Vancouver Gen Hosp, Adult Metab Dis Clin, Vancouver, BC, Canada UCL, Dept Neuromuscular Dis, UCL Queen Sq Inst Neurol, Gower St, London WC1E 6BT, EnglandOrenstein, Naama论文数: 0 引用数: 0 h-index: 0机构: Schneider Childrens Med Ctr Israel, Pediat Genet Unit, Petah Tiqwa, Israel Tel Aviv Univ, Sackler Fac Med, Tel Aviv, Israel UCL, Dept Neuromuscular Dis, UCL Queen Sq Inst Neurol, Gower St, London WC1E 6BT, EnglandBawazeer, Shahad论文数: 0 引用数: 0 h-index: 0机构: King Fahad Med, Sect Med Genet, Childrens Specialist Hosp, Riyadh, Saudi Arabia UCL, Dept Neuromuscular Dis, UCL Queen Sq Inst Neurol, Gower St, London WC1E 6BT, EnglandVulto-van Silfhout, Anneke T.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen Med Ctr, Dept Human Genet, Nijmegen, Netherlands UCL, Dept Neuromuscular Dis, UCL Queen Sq Inst Neurol, Gower St, London WC1E 6BT, EnglandHerenger, Yvan论文数: 0 引用数: 0 h-index: 0机构: Genetica AG, Zurich, Switzerland UCL, Dept Neuromuscular Dis, UCL Queen Sq Inst Neurol, Gower St, London WC1E 6BT, EnglandDehghani, Mohammadreza论文数: 0 引用数: 0 h-index: 0机构: Shahid Sadoughi Univ Med Sci, Med Genet Res Ctr, Yazd, Iran UCL, Dept Neuromuscular Dis, UCL Queen Sq Inst Neurol, Gower St, London WC1E 6BT, EnglandSeyedhassani, Seyed Mohammad论文数: 0 引用数: 0 h-index: 0机构: Dr Seyedhassani Med Genet Ctr, Yazd, Iran UCL, Dept Neuromuscular Dis, UCL Queen Sq Inst Neurol, Gower St, London WC1E 6BT, EnglandBahreini, Amir论文数: 0 引用数: 0 h-index: 0机构: Palindrome, Esfahan, Iran KaryoGen, Esfahan, Iran Univ Pittsburgh, Grad Sch Publ Hlth, Dept Human Genet, Pittsburgh, PA USA UCL, Dept Neuromuscular Dis, UCL Queen Sq Inst Neurol, Gower St, London WC1E 6BT, EnglandNasab, Mahya E.论文数: 0 引用数: 0 h-index: 0机构: Dr Seyedhassani Med Genet Ctr, Yazd, Iran UCL, Dept Neuromuscular Dis, UCL Queen Sq Inst Neurol, Gower St, London WC1E 6BT, EnglandErcan-Sencicek, A. Gulhan论文数: 0 引用数: 0 h-index: 0机构: Yale Univ, Yale Sch Med, Dept Neurosurg, Program Neurogenet, New Haven, CT USA Masonic Med Res Inst, Utica, NY USA UCL, Dept Neuromuscular Dis, UCL Queen Sq Inst Neurol, Gower St, London WC1E 6BT, EnglandFiroozfar, Zahra论文数: 0 引用数: 0 h-index: 0机构: Univ Isfahan, Fac Biol Sci & Technol, Dept Cell & Mol Biol & Microbiol, Esfahan, Iran Palindrome, Esfahan, Iran UCL, Dept Neuromuscular Dis, UCL Queen Sq Inst Neurol, Gower St, London WC1E 6BT, EnglandMovahedinia, Mojtaba论文数: 0 引用数: 0 h-index: 0机构: Shahid Sadoughi Univ Med Sci, Children Growth Disorder Res Ctr, Yazd, Iran UCL, Dept Neuromuscular Dis, UCL Queen Sq Inst Neurol, Gower St, London WC1E 6BT, EnglandEfthymiou, Stephanie论文数: 0 引用数: 0 h-index: 0机构: UCL, Dept Neuromuscular Dis, UCL Queen Sq Inst Neurol, Gower St, London WC1E 6BT, England UCL, Dept Neuromuscular Dis, UCL Queen Sq Inst Neurol, Gower St, London WC1E 6BT, EnglandStriano, Pasquale论文数: 0 引用数: 0 h-index: 0机构: Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, Genoa, Italy IRCCS Ist Giannina Gaslini, Pediat Neurol & Muscular Dis Unit, Genoa, Italy UCL, Dept Neuromuscular Dis, UCL Queen Sq Inst Neurol, Gower St, London WC1E 6BT, EnglandKarimiani, Ehsan Ghayoor论文数: 0 引用数: 0 h-index: 0机构: Next Generat Genet Polyclin, Dept Med Genet, Mashhad, Razavi Khorasan, Iran St Georges Univ London, Mol & Clin Sci Inst, London, England Islamic Azad Univ, Innovat Med Res Ctr, Mashhad Branch, Mashhad, Razavi Khorasan, Iran UCL, Dept Neuromuscular Dis, UCL Queen Sq Inst Neurol, Gower St, London WC1E 6BT, EnglandSalpietro, Vincenzo论文数: 0 引用数: 0 h-index: 0机构: UCL, Dept Neuromuscular Dis, UCL Queen Sq Inst Neurol, Gower St, London WC1E 6BT, England Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, Genoa, Italy IRCCS Ist Giannina Gaslini, Pediat Neurol & Muscular Dis Unit, Genoa, Italy UCL, Dept Neuromuscular Dis, UCL Queen Sq Inst Neurol, Gower St, London WC1E 6BT, EnglandTaylor, Jenny C.论文数: 0 引用数: 0 h-index: 0机构: NIHR, Oxford Biomed Res Ctr, Genom Med Theme, Oxford, Oxon, England Univ Oxford, Wellcome Ctr Human Genet, Oxford, Oxon, England UCL, Dept Neuromuscular Dis, UCL Queen Sq Inst Neurol, Gower St, London WC1E 6BT, EnglandRedman, Melody论文数: 0 引用数: 0 h-index: 0机构: Chapel Allerton Hosp, Yorkshire Reg Genet Serv, Leeds, W Yorkshire, England UCL, Dept Neuromuscular Dis, UCL Queen Sq Inst Neurol, Gower St, London WC1E 6BT, EnglandStegmann, Alexander P. A.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen Med Ctr, Dept Human Genet, Nijmegen, Netherlands Maastricht Univ Med Ctr, Dept Clin Genet, Maastricht, Netherlands UCL, Dept Neuromuscular Dis, UCL Queen Sq Inst Neurol, Gower St, London WC1E 6BT, EnglandLaner, Andreas论文数: 0 引用数: 0 h-index: 0机构: MGZ Med Genet Zentrum, Munich, Germany UCL, Dept Neuromuscular Dis, UCL Queen Sq Inst Neurol, Gower St, London WC1E 6BT, EnglandAbdel-Salam, Ghada论文数: 0 引用数: 0 h-index: 0机构: Natl Res Ctr, Dept Clin Genet, Human Genet & Genome Res Div, Cairo, Egypt UCL, Dept Neuromuscular Dis, UCL Queen Sq Inst Neurol, Gower St, London WC1E 6BT, EnglandLi, Megan论文数: 0 引用数: 0 h-index: 0机构: UCL, Dept Neuromuscular Dis, UCL Queen Sq Inst Neurol, Gower St, London WC1E 6BT, EnglandBengala, Mario论文数: 0 引用数: 0 h-index: 0机构: UCL, Dept Neuromuscular Dis, UCL Queen Sq Inst Neurol, Gower St, London WC1E 6BT, EnglandMuller, Amelie Johanna论文数: 0 引用数: 0 h-index: 0机构: UCL, Dept Neuromuscular Dis, UCL Queen Sq Inst Neurol, Gower St, London WC1E 6BT, EnglandDigilio, Maria C.论文数: 0 引用数: 0 h-index: 0机构: UCL, Dept Neuromuscular Dis, UCL Queen Sq Inst Neurol, Gower St, London WC1E 6BT, England
- [26] Dominant Negative Variants in IKZF2 Cause ICHAD Syndrome, a New Disorder Characterized by Immunodysregulation, Craniofacial Anomalies, Hearing Impairment, Athelia, and Developmental DelayCLINICAL IMMUNOLOGY, 2023, 250 : 115 - 116Vaseghi-Shanjani, Maryam论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Vancouver, BC, Canada Univ British Columbia, Vancouver, BC, CanadaMohajeri, Arezoo论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Vancouver, BC, Canada Univ British Columbia, Vancouver, BC, CanadaRosenfeld, Jill A.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Houston, TX USA Univ British Columbia, Vancouver, BC, CanadaLu, Henry论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Vancouver, BC, Canada Univ British Columbia, Vancouver, BC, CanadaSharma, Mehul论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Vancouver, BC, CanadaLalani, Seema论文数: 0 引用数: 0 h-index: 0机构: Texas Childrens Hosp, Dept Mol & Human Genet, Baylor Coll Med, Houston, TX USA Univ British Columbia, Vancouver, BC, CanadaNicholas, Sarah论文数: 0 引用数: 0 h-index: 0机构: Texas Childrens Hosp, Baylor Coll Med, Houston, TX USA Univ British Columbia, Vancouver, BC, CanadaScott, Daryl A.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX USA Univ British Columbia, Vancouver, BC, CanadaTurvey, Stuart论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Vancouver, BC, Canada Univ British Columbia, Vancouver, BC, CanadaLehman, Anna论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Vancouver, BC, Canada Univ British Columbia, Vancouver, BC, Canada
- [27] Dominant negative variants in IKZF2 cause ICHAD syndrome, a new disorder characterised by immunodysregulation, craniofacial anomalies, hearing impairment, athelia and developmental delayJOURNAL OF MEDICAL GENETICS, 2023, 60 (11) : 1092 - 1104Mohajeri, Arezoo论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Dept Med Genet, Vancouver, BC, Canada Univ British Columbia, Dept Med Genet, Vancouver, BC, CanadaVaseghi-Shanjani, Maryam论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Dept Pediat, Vancouver, BC, Canada BC Childrens Hosp, Vancouver, BC, Canada Univ British Columbia, Dept Med Genet, Vancouver, BC, CanadaRosenfeld, Jill A.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX USA Univ British Columbia, Dept Med Genet, Vancouver, BC, CanadaYang, Gui Xiang论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Dept Med Genet, Vancouver, BC, Canada Univ British Columbia, Dept Med Genet, Vancouver, BC, CanadaLu, Henry论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Dept Pediat, Vancouver, BC, Canada BC Childrens Hosp, Vancouver, BC, Canada Univ British Columbia, Dept Med Genet, Vancouver, BC, CanadaSharma, Mehul论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Dept Pediat, Vancouver, BC, Canada BC Childrens Hosp, Vancouver, BC, Canada Univ British Columbia, Dept Med Genet, Vancouver, BC, CanadaLin, Susan论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Dept Pediat, Vancouver, BC, Canada BC Childrens Hosp, Vancouver, BC, Canada Univ British Columbia, Dept Med Genet, Vancouver, BC, CanadaSalman, Areesha论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Dept Med Genet, Vancouver, BC, Canada Univ British Columbia, Dept Med Genet, Vancouver, BC, CanadaWaqas, Meriam论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Dept Pediat, Vancouver, BC, Canada BC Childrens Hosp, Vancouver, BC, Canada Univ British Columbia, Dept Med Genet, Vancouver, BC, CanadaAzamian, Mahshid Sababi论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX USA Univ British Columbia, Dept Med Genet, Vancouver, BC, CanadaWorley, Kim C.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX USA Univ British Columbia, Dept Med Genet, Vancouver, BC, CanadaDel Bel, Kate L.论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Dept Pediat, Vancouver, BC, Canada BC Childrens Hosp, Vancouver, BC, Canada Univ British Columbia, Dept Med Genet, Vancouver, BC, CanadaKozak, Frederick K.论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Dept Surg, Vancouver, BC, Canada Univ British Columbia, Dept Med Genet, Vancouver, BC, CanadaRahmanian, Ronak论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Dept Surg, Vancouver, BC, Canada Univ British Columbia, Dept Med Genet, Vancouver, BC, CanadaBiggs, Catherine M.论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Dept Pediat, Vancouver, BC, Canada BC Childrens Hosp, Vancouver, BC, Canada Univ British Columbia, Dept Med Genet, Vancouver, BC, CanadaHildebrand, Kyla J.论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Dept Pediat, Vancouver, BC, Canada BC Childrens Hosp, Vancouver, BC, Canada Univ British Columbia, Dept Med Genet, Vancouver, BC, CanadaLalani, Seema R.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX USA Univ British Columbia, Dept Med Genet, Vancouver, BC, CanadaNicholas, Sarah K.论文数: 0 引用数: 0 h-index: 0机构: Texas Childrens Hosp, Dept Pediat, Houston, TX USA Univ British Columbia, Dept Med Genet, Vancouver, BC, CanadaScott, Daryl A.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX USA Univ British Columbia, Dept Med Genet, Vancouver, BC, CanadaMostafavi, Sara论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Dept Med Genet, Vancouver, BC, Canada Univ British Columbia, Dept Med Genet, Vancouver, BC, Canadavan Karnebeek, Clara论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Dept Pediat, Vancouver, BC, Canada BC Childrens Hosp, Vancouver, BC, Canada Univ British Columbia, Dept Med Genet, Vancouver, BC, CanadaHenkelman, Erika论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Dept Surg, Vancouver, BC, Canada Univ British Columbia, Dept Med Genet, Vancouver, BC, CanadaHalparin, Jessica论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Dept Pediat, Vancouver, BC, Canada BC Childrens Hosp, Vancouver, BC, Canada Univ British Columbia, Dept Med Genet, Vancouver, BC, CanadaYang, Connie L.论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Dept Pediat, Vancouver, BC, Canada BC Childrens Hosp, Vancouver, BC, Canada Univ British Columbia, Dept Med Genet, Vancouver, BC, CanadaArmstrong, Linlea论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Dept Med Genet, Vancouver, BC, Canada BC Childrens & Womens Hosp, Prov Med Genet Program, Vancouver, BC, Canada Univ British Columbia, Dept Med Genet, Vancouver, BC, CanadaTurvey, Stuart E.论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Dept Pediat, Vancouver, BC, Canada BC Childrens Hosp, Vancouver, BC, Canada Univ British Columbia, Vancouver, BC V5Z 4H4, Canada Univ British Columbia, Dept Med Genet, Vancouver, BC, CanadaLehman, Anna论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Dept Med Genet, Vancouver, BC, Canada Univ British Columbia, Vancouver, BC V5Z 4H4, Canada Univ British Columbia, Dept Med Genet, Vancouver, BC, Canada
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