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- [1] Bi-allelic variants in BRF2 are associated with perinatal death and craniofacial anomaliesGenome Medicine, 17 (1)Francesca Mattioli论文数: 0 引用数: 0 h-index: 0机构: University of Lausanne,Center for Integrative Genomics University of Lausanne,Center for Integrative GenomicsRún Friðriksdóttir论文数: 0 引用数: 0 h-index: 0机构: deCODE Genetics/Amgen Inc,School of Engineering and Natural Sciences University of Lausanne,Center for Integrative GenomicsAnne Hebert论文数: 0 引用数: 0 h-index: 0机构: University of Lausanne,Center for Integrative Genomics University of Lausanne,Center for Integrative GenomicsSissy Bassani论文数: 0 引用数: 0 h-index: 0机构: University of Lausanne,Center for Integrative Genomics University of Lausanne,Center for Integrative GenomicsNazia Ibrahim论文数: 0 引用数: 0 h-index: 0机构: University of Lausanne,Center for Integrative Genomics University of Lausanne,Center for Integrative GenomicsShagufta Naz论文数: 0 引用数: 0 h-index: 0机构: Lahore College for Women University,Craniofacial and Cleft Research Center University of Lausanne,Center for Integrative GenomicsJacqueline Chrast论文数: 0 引用数: 0 h-index: 0机构: Lahore College for Women University,Craniofacial and Cleft Research Center University of Lausanne,Center for Integrative GenomicsClara Pailler-Pradeau论文数: 0 引用数: 0 h-index: 0机构: University of Lausanne,Center for Integrative Genomics University of Lausanne,Center for Integrative GenomicsÁsmundur Oddsson论文数: 0 引用数: 0 h-index: 0机构: University of Lausanne,Center for Integrative Genomics University of Lausanne,Center for Integrative GenomicsPatrick Sulem论文数: 0 引用数: 0 h-index: 0机构: deCODE Genetics/Amgen Inc,School of Engineering and Natural Sciences University of Lausanne,Center for Integrative GenomicsGisli H. Halldorsson论文数: 0 引用数: 0 h-index: 0机构: deCODE Genetics/Amgen Inc,School of Engineering and Natural Sciences University of Lausanne,Center for Integrative GenomicsPáll Melsted论文数: 0 引用数: 0 h-index: 0机构: deCODE Genetics/Amgen Inc,School of Engineering and Natural Sciences University of Lausanne,Center for Integrative GenomicsDaníel F. Guðbjartsson论文数: 0 引用数: 0 h-index: 0机构: University of Iceland,Department of Pathology and Laboratory Medicine University of Lausanne,Center for Integrative GenomicsFlavia Palombo论文数: 0 引用数: 0 h-index: 0机构: deCODE Genetics/Amgen Inc,School of Engineering and Natural Sciences University of Lausanne,Center for Integrative GenomicsTommaso Pippucci论文数: 0 引用数: 0 h-index: 0机构: University of Iceland,Department of Pathology and Laboratory Medicine University of Lausanne,Center for Integrative GenomicsNayereh Nouri论文数: 0 引用数: 0 h-index: 0机构: deCODE Genetics/Amgen Inc,School of Engineering and Natural Sciences University of Lausanne,Center for Integrative GenomicsMarco Seri论文数: 0 引用数: 0 h-index: 0机构: University of Iceland,Department of Pathology and Laboratory Medicine University of Lausanne,Center for Integrative GenomicsEmily G. Farrow论文数: 0 引用数: 0 h-index: 0机构: IRCCS Istituto Delle Scienze Neurologiche,Bioinformatics Competence Center University of Lausanne,Center for Integrative GenomicsCarol J. Saunders论文数: 0 引用数: 0 h-index: 0机构: Programma Di Neurogenetica,Department of Ophthalmology University of Lausanne,Center for Integrative GenomicsNicolas Guex论文数: 0 引用数: 0 h-index: 0机构: IRCCS Azienda Ospedaliero-Universitaria Di Bologna,Faculty of Medicine, School of Health Sciences University of Lausanne,Center for Integrative GenomicsMuhammad Ansar论文数: 0 引用数: 0 h-index: 0机构: Programma Di Neurogenetica,Department of Ophthalmology University of Lausanne,Center for Integrative GenomicsKari Stefansson论文数: 0 引用数: 0 h-index: 0机构: Isfahan University of Medical Sciences,Health2030 Genome Center University of Lausanne,Center for Integrative GenomicsAlexandre Reymond论文数: 0 引用数: 0 h-index: 0机构: University of Missouri-Kansas City School of Medicine,undefined University of Lausanne,Center for Integrative Genomics
- [2] Biallelic sequence variants in INTS1 in patients with developmental delays, cataracts, and craniofacial anomaliesEUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 27 (04) : 582 - 593Krall, Max论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Dept Pediat, Div Genet, San Francisco, CA 94143 USA Univ Calif San Francisco, Dept Pediat, Div Genet, San Francisco, CA 94143 USAHtun, Stephanie论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Dept Pediat, Div Genet, San Francisco, CA 94143 USA Univ Calif San Francisco, Dept Pediat, Div Genet, San Francisco, CA 94143 USASchnur, Rhonda E.论文数: 0 引用数: 0 h-index: 0机构: GeneDx, Gaithersburg, MD 20877 USA Univ Calif San Francisco, Dept Pediat, Div Genet, San Francisco, CA 94143 USABrooks, Alice S.论文数: 0 引用数: 0 h-index: 0机构: ErasmusMC Univ Med Ctr, Dept Clin Genet, NL-3015 CN Rotterdam, Netherlands Univ Calif San Francisco, Dept Pediat, Div Genet, San Francisco, CA 94143 USABaker, Laura论文数: 0 引用数: 0 h-index: 0机构: AI du Pont Hosp Children Nemours, Div Med Genet, Wilmington, DE 19803 USA Univ Calif San Francisco, Dept Pediat, Div Genet, San Francisco, CA 94143 USACampomanes, Alejandra de Alba论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Dept Ophthalmol, San Francisco, CA 94143 USA Univ Calif San Francisco, Dept Pediat, Div Genet, San Francisco, CA 94143 USALamont, Ryan E.论文数: 0 引用数: 0 h-index: 0机构: Univ Calgary, Cumming Sch Med, Dept Med Genet, Calgary, AB, Canada Univ Calgary, Cumming Sch Med, Alberta Childrens Hosp, Res Inst, Calgary, AB, Canada Univ Calif San Francisco, Dept Pediat, Div Genet, San Francisco, CA 94143 USAGripp, Karen W.论文数: 0 引用数: 0 h-index: 0机构: AI du Pont Hosp Children Nemours, Div Med Genet, Wilmington, DE 19803 USA Univ Calif San Francisco, Dept Pediat, Div Genet, San Francisco, CA 94143 USASchneidman-Duhovny, Dina论文数: 0 引用数: 0 h-index: 0机构: Hebrew Univ Jerusalem, Sch Comp Sci & Engn, Jerusalem, Israel Hebrew Univ Jerusalem, Inst Life Sci, Dept Biochem, Jerusalem, Israel Univ Calif San Francisco, Dept Pediat, Div Genet, San Francisco, CA 94143 USAInnes, A. Micheil论文数: 0 引用数: 0 h-index: 0机构: Univ Calgary, Cumming Sch Med, Dept Med Genet, Calgary, AB, Canada Univ Calgary, Cumming Sch Med, Alberta Childrens Hosp, Res Inst, Calgary, AB, Canada Univ Calif San Francisco, Dept Pediat, Div Genet, San Francisco, CA 94143 USAMancini, Grazia M. S.论文数: 0 引用数: 0 h-index: 0机构: ErasmusMC Univ Med Ctr, Dept Clin Genet, NL-3015 CN Rotterdam, Netherlands Univ Calif San Francisco, Dept Pediat, Div Genet, San Francisco, CA 94143 USASlavotinek, Anne M.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Dept Pediat, Div Genet, San Francisco, CA 94143 USA Univ Calif San Francisco, Dept Pediat, Div Genet, San Francisco, CA 94143 USA
- [3] Biallelic sequence variants in INTS1 in patients with developmental delays, cataracts, and craniofacial anomaliesEuropean Journal of Human Genetics, 2019, 27 : 582 - 593Max Krall论文数: 0 引用数: 0 h-index: 0机构: University of California,Dept. Pediatrics, Division of GeneticsStephanie Htun论文数: 0 引用数: 0 h-index: 0机构: University of California,Dept. Pediatrics, Division of GeneticsRhonda E. Schnur论文数: 0 引用数: 0 h-index: 0机构: University of California,Dept. Pediatrics, Division of GeneticsAlice S. Brooks论文数: 0 引用数: 0 h-index: 0机构: University of California,Dept. Pediatrics, Division of GeneticsLaura Baker论文数: 0 引用数: 0 h-index: 0机构: University of California,Dept. Pediatrics, Division of GeneticsAlejandra de Alba Campomanes论文数: 0 引用数: 0 h-index: 0机构: University of California,Dept. Pediatrics, Division of GeneticsRyan E. Lamont论文数: 0 引用数: 0 h-index: 0机构: University of California,Dept. Pediatrics, Division of GeneticsKaren W. Gripp论文数: 0 引用数: 0 h-index: 0机构: University of California,Dept. Pediatrics, Division of GeneticsDina Schneidman-Duhovny论文数: 0 引用数: 0 h-index: 0机构: University of California,Dept. Pediatrics, Division of GeneticsA. Micheil Innes论文数: 0 引用数: 0 h-index: 0机构: University of California,Dept. Pediatrics, Division of GeneticsGrazia M. S. Mancini论文数: 0 引用数: 0 h-index: 0机构: University of California,Dept. Pediatrics, Division of GeneticsAnne M. Slavotinek论文数: 0 引用数: 0 h-index: 0机构: University of California,Dept. Pediatrics, Division of Genetics
- [4] Glucose impairment and ghrelin gene variants are associated to cognitive dysfunctionAging Clinical and Experimental Research, 2014, 26 : 161 - 169M. Mora论文数: 0 引用数: 0 h-index: 0机构: Hospital Clínic I Universitari of Barcelona,Department of Endocrinology and NutritionM. L. Mansego论文数: 0 引用数: 0 h-index: 0机构: Hospital Clínic I Universitari of Barcelona,Department of Endocrinology and NutritionM. Serra-Prat论文数: 0 引用数: 0 h-index: 0机构: Hospital Clínic I Universitari of Barcelona,Department of Endocrinology and NutritionE. Palomera论文数: 0 引用数: 0 h-index: 0机构: Hospital Clínic I Universitari of Barcelona,Department of Endocrinology and NutritionX. Boquet论文数: 0 引用数: 0 h-index: 0机构: Hospital Clínic I Universitari of Barcelona,Department of Endocrinology and NutritionJF Chaves论文数: 0 引用数: 0 h-index: 0机构: Hospital Clínic I Universitari of Barcelona,Department of Endocrinology and NutritionM. Puig-Domingo论文数: 0 引用数: 0 h-index: 0机构: Hospital Clínic I Universitari of Barcelona,Department of Endocrinology and Nutrition
- [5] Glucose impairment and ghrelin gene variants are associated to cognitive dysfunctionAGING CLINICAL AND EXPERIMENTAL RESEARCH, 2014, 26 (02) : 161 - 169Mora, M.论文数: 0 引用数: 0 h-index: 0机构: Univ Barcelona, Dept Endocrinol & Nutr, Hosp Clin 1, Barcelona, Spain Univ Barcelona, Dept Endocrinol & Nutr, Hosp Clin 1, Barcelona, SpainMansego, M. L.论文数: 0 引用数: 0 h-index: 0机构: Univ Navarra, Dept Nutr & Food Sci, Navarra, Spain Hosp Clin Univ Valencia, CIBER Diabet & Enfermedades Metab, Res Fdn, Genotyping & Genet Diag Unit, Valencia, Spain Univ Barcelona, Dept Endocrinol & Nutr, Hosp Clin 1, Barcelona, SpainSerra-Prat, M.论文数: 0 引用数: 0 h-index: 0机构: Hosp Mataro, Res Unit, Mataro, Spain Hosp Mataro, Ciberhep, Mataro, Spain Univ Barcelona, Dept Endocrinol & Nutr, Hosp Clin 1, Barcelona, SpainPalomera, E.论文数: 0 引用数: 0 h-index: 0机构: Hosp Mataro, Res Unit, Mataro, Spain Hosp Mataro, Ciberhep, Mataro, Spain Univ Barcelona, Dept Endocrinol & Nutr, Hosp Clin 1, Barcelona, SpainBoquet, X.论文数: 0 引用数: 0 h-index: 0机构: Hosp Mataro, Res Unit Biochem Serv, Mataro, Spain Univ Barcelona, Dept Endocrinol & Nutr, Hosp Clin 1, Barcelona, SpainChaves, J. F.论文数: 0 引用数: 0 h-index: 0机构: Hosp Clin Univ Valencia, CIBER Diabet & Enfermedades Metab, Res Fdn, Genotyping & Genet Diag Unit, Valencia, Spain Univ Barcelona, Dept Endocrinol & Nutr, Hosp Clin 1, Barcelona, SpainPuig-Domingo, M.论文数: 0 引用数: 0 h-index: 0机构: Hosp Badalona Germans Trias & Pujol, Dept Endocrinol & Nutr, Barcelona 08916, Spain Univ Barcelona, Dept Endocrinol & Nutr, Hosp Clin 1, Barcelona, Spain
- [6] Biallelic variants in the synaptic vesicle glycoprotein 2 A are associated with epileptic encephalopathyEuropean Journal of Human Genetics, 2024, 32 : 243 - 246Almundher Al-Maawali论文数: 0 引用数: 0 h-index: 0机构: Sultan Qaboos University,Department of Genetics, Sultan Qaboos University HospitalFathiya Al-Murshedi论文数: 0 引用数: 0 h-index: 0机构: Sultan Qaboos University,Department of Genetics, Sultan Qaboos University HospitalAmna Al-Futaisi论文数: 0 引用数: 0 h-index: 0机构: Sultan Qaboos University,Department of Genetics, Sultan Qaboos University HospitalAhmed Mansy论文数: 0 引用数: 0 h-index: 0机构: Sultan Qaboos University,Department of Genetics, Sultan Qaboos University HospitalAsila Al-Habsi论文数: 0 引用数: 0 h-index: 0机构: Sultan Qaboos University,Department of Genetics, Sultan Qaboos University HospitalKatta M. Girisha论文数: 0 引用数: 0 h-index: 0机构: Sultan Qaboos University,Department of Genetics, Sultan Qaboos University Hospital
- [7] Biallelic PAN2 variants in individuals with a syndromic neurodevelopmental disorder and multiple congenital anomaliesEuropean Journal of Human Genetics, 2022, 30 : 611 - 618Miriam S. Reuter论文数: 0 引用数: 0 h-index: 0机构: CGEn,Program in Genetics and Genome BiologyMichael Zech论文数: 0 引用数: 0 h-index: 0机构: CGEn,Program in Genetics and Genome BiologyMaja Hempel论文数: 0 引用数: 0 h-index: 0机构: CGEn,Program in Genetics and Genome BiologyJanine Altmüller论文数: 0 引用数: 0 h-index: 0机构: CGEn,Program in Genetics and Genome BiologyTracy Heung论文数: 0 引用数: 0 h-index: 0机构: CGEn,Program in Genetics and Genome BiologyLaura Pölsler论文数: 0 引用数: 0 h-index: 0机构: CGEn,Program in Genetics and Genome BiologyRené Santer论文数: 0 引用数: 0 h-index: 0机构: CGEn,Program in Genetics and Genome BiologyHolger Thiele论文数: 0 引用数: 0 h-index: 0机构: CGEn,Program in Genetics and Genome BiologyBrett Trost论文数: 0 引用数: 0 h-index: 0机构: CGEn,Program in Genetics and Genome BiologyChristian Kubisch论文数: 0 引用数: 0 h-index: 0机构: CGEn,Program in Genetics and Genome BiologyStephen W. Scherer论文数: 0 引用数: 0 h-index: 0机构: CGEn,Program in Genetics and Genome BiologySabine Rudnik-Schöneborn论文数: 0 引用数: 0 h-index: 0机构: CGEn,Program in Genetics and Genome BiologyAnne S. Bassett论文数: 0 引用数: 0 h-index: 0机构: CGEn,Program in Genetics and Genome BiologyDavor Lessel论文数: 0 引用数: 0 h-index: 0机构: CGEn,Program in Genetics and Genome Biology
- [8] Biallelic variants in the synaptic vesicle glycoprotein 2 A are associated with epileptic encephalopathyEUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 (02) : 243 - 246论文数: 引用数: h-index:机构:Al-Murshedi, Fathiya论文数: 0 引用数: 0 h-index: 0机构: Sultan Qaboos Univ, Sultan Qaboos Univ Hosp, Dept Genet, Muscat, Oman Sultan Qaboos Univ, Sultan Qaboos Univ Hosp, Dept Genet, Muscat, OmanAl-Futaisi, Amna论文数: 0 引用数: 0 h-index: 0机构: Sultan Qaboos Univ, Coll Med & Hlth Sci, Dept Child Hlth, Muscat, Oman Sultan Qaboos Univ, Sultan Qaboos Univ Hosp, Dept Genet, Muscat, OmanMansy, Ahmed论文数: 0 引用数: 0 h-index: 0机构: Sultan Qaboos Univ, Coll Med & Hlth Sci, Dept Child Hlth, Muscat, Oman Sultan Qaboos Univ, Sultan Qaboos Univ Hosp, Dept Genet, Muscat, OmanAl-Habsi, Asila论文数: 0 引用数: 0 h-index: 0机构: Sultan Qaboos Univ Hosp, Dept Nursing, Muscat, Oman Sultan Qaboos Univ, Sultan Qaboos Univ Hosp, Dept Genet, Muscat, OmanGirisha, Katta M.论文数: 0 引用数: 0 h-index: 0机构: Sultan Qaboos Univ, Coll Med & Hlth Sci, Dept Genet, Muscat, Oman Sultan Qaboos Univ, Sultan Qaboos Univ Hosp, Dept Genet, Muscat, Oman
- [9] Expanding the phenotype associated with biallelic SLC20A2 variantsEUROPEAN JOURNAL OF HUMAN GENETICS, 2023, 31 (07) : 725 - 729D'Onofrio, Gianluca论文数: 0 引用数: 0 h-index: 0机构: Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, I-16132 Genoa, Italy IRCCS Giannina Gaslini Inst, Pediat Neurol & Muscular Dis Unit, I-16147 Genoa, Italy Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, I-16132 Genoa, ItalyScala, Marcello论文数: 0 引用数: 0 h-index: 0机构: Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, I-16132 Genoa, Italy IRCCS Giannina Gaslini Inst, Pediat Neurol & Muscular Dis Unit, I-16147 Genoa, Italy IRCCS Giannina Gaslini Inst, Unit Med Genet, I-16147 Genoa, Italy Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, I-16132 Genoa, ItalySeverino, Mariasavina论文数: 0 引用数: 0 h-index: 0机构: IRCCS Giannina Gaslini Inst, Neuroradiol Unit, I-16147 Genoa, Italy Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, I-16132 Genoa, ItalyRoberti, Roberta论文数: 0 引用数: 0 h-index: 0机构: Magna Graecia Univ Catanzaro, Sch Med, Sci Hlth Dept, I-88100 Catanzaro, Italy Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, I-16132 Genoa, ItalyRomano, Ferruccio论文数: 0 引用数: 0 h-index: 0机构: IRCCS Giannina Gaslini Inst, Unit Med Genet, I-16147 Genoa, Italy Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, I-16132 Genoa, ItalyDe Marco, Patrizia论文数: 0 引用数: 0 h-index: 0机构: IRCCS Giannina Gaslini Inst, Unit Med Genet, I-16147 Genoa, Italy Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, I-16132 Genoa, ItalyIacomino, Michele论文数: 0 引用数: 0 h-index: 0机构: IRCCS Giannina Gaslini Inst, Unit Med Genet, I-16147 Genoa, Italy Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, I-16132 Genoa, ItalyBaldassari, Simona论文数: 0 引用数: 0 h-index: 0机构: IRCCS Giannina Gaslini Inst, Unit Med Genet, I-16147 Genoa, Italy Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, I-16132 Genoa, ItalyUva, Paolo论文数: 0 引用数: 0 h-index: 0机构: IRCCS Giannina Gaslini Inst, Clin Bioinformat Unit, I-16147 Genoa, Italy Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, I-16132 Genoa, ItalyPavanello, Marco论文数: 0 引用数: 0 h-index: 0机构: IRCCS Giannina Gaslini Inst, Dept Neurosurg, I-16147 Genoa, Italy Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, I-16132 Genoa, ItalyGustincich, Stefano论文数: 0 引用数: 0 h-index: 0机构: Ist Italiano Tecnol, Dept Neurosci & Brain Technol, I-16163 Genoa, Italy Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, I-16132 Genoa, ItalyStriano, Pasquale论文数: 0 引用数: 0 h-index: 0机构: Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, I-16132 Genoa, Italy IRCCS Giannina Gaslini Inst, Pediat Neurol & Muscular Dis Unit, I-16147 Genoa, Italy Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, I-16132 Genoa, ItalyZara, Federico论文数: 0 引用数: 0 h-index: 0机构: IRCCS Giannina Gaslini Inst, Unit Med Genet, I-16147 Genoa, Italy Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, I-16132 Genoa, ItalyCapra, Valeria论文数: 0 引用数: 0 h-index: 0机构: IRCCS Giannina Gaslini Inst, Unit Med Genet, I-16147 Genoa, Italy Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, I-16132 Genoa, Italy
- [10] Variable skeletal phenotypes associated with biallelic variants in PRKG2JOURNAL OF MEDICAL GENETICS, 2021, : 947 - 950Pagnamenta, Alistair T.论文数: 0 引用数: 0 h-index: 0机构: NIHR Biomed Res Ctr, Oxford, England Univ Oxford, Wellcome Ctr Human Genet, Oxford, England NIHR Biomed Res Ctr, Oxford, EnglandDiaz-Gonzalez, Francisca论文数: 0 引用数: 0 h-index: 0机构: IdiPAZ, INGEMM, Madrid, Spain Hosp Univ La Paz, Skeletal Dysplasia Multidisciplinary Unit UMDE, ERN BOND, Madrid, Spain NIHR Biomed Res Ctr, Oxford, EnglandBanos-Pinero, Benito论文数: 0 引用数: 0 h-index: 0机构: Oxford Univ Hosp NHS Fdn Trust, Oxford Genet Labs, Oxford, England NIHR Biomed Res Ctr, Oxford, EnglandFerla, Matteo P.论文数: 0 引用数: 0 h-index: 0机构: NIHR Biomed Res Ctr, Oxford, England Univ Oxford, Wellcome Ctr Human Genet, Oxford, England NIHR Biomed Res Ctr, Oxford, EnglandToosi, Mehran B.论文数: 0 引用数: 0 h-index: 0机构: Mashhad Univ Med Sci, Ghaem Hosp, Dept Pediat Neurol, Mashhad, Razavi Khorasan, Iran NIHR Biomed Res Ctr, Oxford, EnglandCalder, Alistair D.论文数: 0 引用数: 0 h-index: 0机构: Great Ormond St Hosp Children NHS Fdn Trust, Dept Radiol, London, England NIHR Biomed Res Ctr, Oxford, EnglandKarimiani, Ehsan G.论文数: 0 引用数: 0 h-index: 0机构: Univ London, Genet Res Ctr, London, England Univ London, Mol & Clin Sci Inst, London, England NIHR Biomed Res Ctr, Oxford, EnglandDoosti, Mohammad论文数: 0 引用数: 0 h-index: 0机构: Razavi Int Hosp, Next Generat Genet Polyclin, Mashhad, Razavi Khorasan, Iran NIHR Biomed Res Ctr, Oxford, EnglandWainwright, Andrew论文数: 0 引用数: 0 h-index: 0机构: Oxford Univ Hosp NHS Fdn Trust, Dept Paediat, Oxford, England NIHR Biomed Res Ctr, Oxford, EnglandWordsworth, Paul论文数: 0 引用数: 0 h-index: 0机构: NIHR Biomed Res Ctr, Oxford, England Univ Oxford, Wellcome Ctr Human Genet, Oxford, England Oxford Univ Hosp NHS Fdn Trust, Dept Paediat, Oxford, England NIHR Biomed Res Ctr, Oxford, EnglandBailey, Kathryn论文数: 0 引用数: 0 h-index: 0机构: Oxford Univ Hosp NHS Fdn Trust, Dept Paediat, Oxford, England NIHR Biomed Res Ctr, Oxford, EnglandEjeskaer, Katarina论文数: 0 引用数: 0 h-index: 0机构: Univ Skovde, Sch Hlth Sci, Translat Med, Skovde, Sweden NIHR Biomed Res Ctr, Oxford, EnglandLester, Tracy论文数: 0 引用数: 0 h-index: 0机构: Oxford Univ Hosp NHS Fdn Trust, Oxford Genet Labs, Oxford, England NIHR Biomed Res Ctr, Oxford, EnglandMaroofian, Reza论文数: 0 引用数: 0 h-index: 0机构: UCL, Queen Sq Inst Neurol, Dept Neuromusc Disorders, London, England NIHR Biomed Res Ctr, Oxford, EnglandHeath, Karen E.论文数: 0 引用数: 0 h-index: 0机构: IdiPAZ, INGEMM, Madrid, Spain Hosp Univ La Paz, Skeletal Dysplasia Multidisciplinary Unit UMDE, ERN BOND, Madrid, Spain ISCIII, CIBERER, Madrid, Spain NIHR Biomed Res Ctr, Oxford, EnglandTajsharghi, Homa论文数: 0 引用数: 0 h-index: 0机构: NIHR Biomed Res Ctr, Oxford, EnglandShears, Deborah论文数: 0 引用数: 0 h-index: 0机构: Oxford Univ Hosp NHS Fdn Trust, Oxford Ctr Genom Med, Oxford, England NIHR Biomed Res Ctr, Oxford, EnglandTaylor, Jenny C.论文数: 0 引用数: 0 h-index: 0机构: NIHR Biomed Res Ctr, Oxford, England Univ Oxford, Wellcome Ctr Human Genet, Oxford, England NIHR Biomed Res Ctr, Oxford, England