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- [11] A case of Wiedemann-Steiner syndrome with central precocious pubertyHORMONE RESEARCH IN PAEDIATRICS, 2019, 91 : 576 - 577论文数: 引用数: h-index:机构:Yoshida, Aya论文数: 0 引用数: 0 h-index: 0机构: Nagoya City Univ, Grad Sch Med Sci, Dept Pediat & Neonatol, Nagoya, Aichi, Japan Nagoya City Univ, Grad Sch Med Sci, Dept Pediat & Neonatol, Nagoya, Aichi, JapanYamaguchi, Naoya论文数: 0 引用数: 0 h-index: 0机构: Nagoya City Univ, Grad Sch Med Sci, Dept Pediat & Neonatol, Nagoya, Aichi, Japan Nagoya City Univ, Grad Sch Med Sci, Dept Pediat & Neonatol, Nagoya, Aichi, JapanSuzuki, Atsushi论文数: 0 引用数: 0 h-index: 0机构: Nagoya City Univ, Grad Sch Med Sci, Dept Pediat & Neonatol, Nagoya, Aichi, Japan Nagoya City Univ, Grad Sch Med Sci, Dept Pediat & Neonatol, Nagoya, Aichi, JapanTanaka, Tatsushi论文数: 0 引用数: 0 h-index: 0机构: Nagoya City Univ, Grad Sch Med Sci, Dept Pediat & Neonatol, Nagoya, Aichi, Japan Nagoya City Univ, Grad Sch Med Sci, Dept Pediat & Neonatol, Nagoya, Aichi, JapanSaitoh, Shinji论文数: 0 引用数: 0 h-index: 0机构: Nagoya City Univ, Grad Sch Med Sci, Dept Pediat & Neonatol, Nagoya, Aichi, Japan Nagoya City Univ, Grad Sch Med Sci, Dept Pediat & Neonatol, Nagoya, Aichi, JapanMizuno, Haruo论文数: 0 引用数: 0 h-index: 0机构: Nagoya City Univ, Grad Sch Med Sci, Dept Pediat & Neonatol, Nagoya, Aichi, Japan Int Univ Hlth & Welf, Sch Med, Dept Pediat, Narita, Japan Nagoya City Univ, Grad Sch Med Sci, Dept Pediat & Neonatol, Nagoya, Aichi, Japan
- [12] Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndromeAMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2021, 185 (06) : 1649 - 1665Sheppard, Sarah E.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Ctr Appl Genom, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Dept Pediat, Div Human Genet, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Ctr Appl Genom, Philadelphia, PA 19104 USACampbell, Ian M.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Ctr Appl Genom, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Dept Pediat, Div Human Genet, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Ctr Appl Genom, Philadelphia, PA 19104 USAHarr, Margaret H.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Ctr Appl Genom, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Ctr Appl Genom, Philadelphia, PA 19104 USAGold, Nina论文数: 0 引用数: 0 h-index: 0机构: Mass Gen Hosp Children, Div Med Genet & Metab, Boston, MA USA Harvard Med Sch, Boston, MA 02115 USA Childrens Hosp Philadelphia, Ctr Appl Genom, Philadelphia, PA 19104 USALi, Dong论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Ctr Appl Genom, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Ctr Appl Genom, Philadelphia, PA 19104 USABjornsson, Hans T.论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, Sch Med, Dept Genet Med, Baltimore, MD USA Univ Iceland, Fac Med, Reykjavik, Iceland Landspitali Univ Hosp, Reykjavik, Iceland Childrens Hosp Philadelphia, Ctr Appl Genom, Philadelphia, PA 19104 USACohen, Julie S.论文数: 0 引用数: 0 h-index: 0机构: Kennedy Krieger Inst, Div Neurogenet, Baltimore, MD USA Kennedy Krieger Inst, Hugo W Moser Res Inst, Baltimore, MD USA Johns Hopkins Univ, Sch Med, McKusick Nathans Inst Genet Med, Baltimore, MD USA Childrens Hosp Philadelphia, Ctr Appl Genom, Philadelphia, PA 19104 USAFahrner, Jill A.论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, Sch Med, Dept Genet Med, Baltimore, MD USA Johns Hopkins Univ, Dept Pediat, Baltimore, MD 21218 USA Childrens Hosp Philadelphia, Ctr Appl Genom, Philadelphia, PA 19104 USAFatemi, Ali论文数: 0 引用数: 0 h-index: 0机构: Kennedy Krieger Inst, Div Neurogenet, Baltimore, MD USA Kennedy Krieger Inst, Hugo W Moser Res Inst, Baltimore, MD USA Johns Hopkins Univ, Sch Med, Dept Neurol, Baltimore, MD 21205 USA Johns Hopkins Univ, Sch Med, Dept Pediat, Baltimore, MD 21205 USA Childrens Hosp Philadelphia, Ctr Appl Genom, Philadelphia, PA 19104 USAHarris, Jacqueline R.论文数: 0 引用数: 0 h-index: 0机构: Kennedy Krieger Inst, Div Neurogenet, Baltimore, MD USA Kennedy Krieger Inst, Hugo W Moser Res Inst, Baltimore, MD USA Johns Hopkins Univ, Sch Med, McKusick Nathans Inst Genet Med, Baltimore, MD USA Childrens Hosp Philadelphia, Ctr Appl Genom, Philadelphia, PA 19104 USANowak, Catherine论文数: 0 引用数: 0 h-index: 0机构: Boston Childrens Hosp, Feingold Ctr Children, Div Genet & Genom, Boston, MA USA Childrens Hosp Philadelphia, Ctr Appl Genom, Philadelphia, PA 19104 USAStevens, Cathy A.论文数: 0 引用数: 0 h-index: 0机构: Univ Tennessee, Dept Pediat, Coll Med, Chattanooga, TN USA Childrens Hosp Philadelphia, Ctr Appl Genom, Philadelphia, PA 19104 USAGrand, Katheryn论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Los Angeles, Cedars Sinai Med Ctr, Dept Pediat, Div Med Genet, Los Angeles, CA USA Univ Calif Los Angeles, David Geffen Sch Med, Los Angeles, CA 90095 USA Childrens Hosp Philadelphia, Ctr Appl Genom, Philadelphia, PA 19104 USAAu, Margaret论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Los Angeles, Cedars Sinai Med Ctr, Dept Pediat, Div Med Genet, Los Angeles, CA USA Univ Calif Los Angeles, David Geffen Sch Med, Los Angeles, CA 90095 USA Childrens Hosp Philadelphia, Ctr Appl Genom, Philadelphia, PA 19104 USAGraham, John M., Jr.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Los Angeles, Cedars Sinai Med Ctr, Dept Pediat, Div Med Genet, Los Angeles, CA USA Univ Calif Los Angeles, David Geffen Sch Med, Los Angeles, CA 90095 USA Childrens Hosp Philadelphia, Ctr Appl Genom, Philadelphia, PA 19104 USASanchez-Lara, Pedro A.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Los Angeles, Cedars Sinai Med Ctr, Dept Pediat, Div Med Genet, Los Angeles, CA USA Univ Calif Los Angeles, David Geffen Sch Med, Los Angeles, CA 90095 USA Childrens Hosp Philadelphia, Ctr Appl Genom, Philadelphia, PA 19104 USADel Campo, Miguel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 Childrens Hosp Philadelphia, Ctr Appl Genom, Philadelphia, PA 19104 USAJones, Marilyn C.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 Childrens Hosp Philadelphia, Ctr Appl Genom, Philadelphia, PA 19104 USAAbdul-Rahman, Omar论文数: 0 引用数: 0 h-index: 0机构: Univ Nebraska Med Ctr, Munroe Meyer Inst, Omaha, NE USA Childrens Hosp Philadelphia, Ctr Appl Genom, Philadelphia, PA 19104 USAAlkuraya, Fowzan S.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 Childrens Hosp Philadelphia, Ctr Appl Genom, Philadelphia, PA 19104 USABassetti, Jennifer A.论文数: 0 引用数: 0 h-index: 0机构: Weill Cornell Med, Div Med Genet, Dept Pediat, New York, NY USA Childrens Hosp Philadelphia, Ctr Appl Genom, Philadelphia, PA 19104 USABergstrom, Katherine论文数: 0 引用数: 0 h-index: 0机构: Weill Cornell Med, Div Med Genet, Dept Pediat, New York, NY USA Childrens Hosp Philadelphia, Ctr Appl Genom, Philadelphia, PA 19104 USABhoj, Elizabeth论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Ctr Appl Genom, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Dept Pediat, Div Human Genet, Philadelphia, PA 19104 USA Univ Penn, Dept Pediat, Perelman Sch Med, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Ctr Appl Genom, Philadelphia, PA 19104 USADugan, Sarah论文数: 0 引用数: 0 h-index: 0机构: Univ Utah, Div Med Genet, Salt Lake City, UT USA Childrens Hosp Philadelphia, Ctr Appl Genom, Philadelphia, PA 19104 USAKaplan, Julie D.论文数: 0 引用数: 0 h-index: 0机构: Univ Nebraska Med Ctr, Munroe Meyer Inst, Omaha, NE USA Childrens Hosp Philadelphia, Ctr Appl Genom, Philadelphia, PA 19104 USADerar, Nada论文数: 0 引用数: 0 h-index: 0机构: King Faisal Specialist Hosp & Res Ctr, Ctr Genom Med, Dept Med Genom, Riyadh, Saudi Arabia Childrens Hosp Philadelphia, Ctr Appl Genom, Philadelphia, PA 19104 USAGripp, Karen W.论文数: 0 引用数: 0 h-index: 0机构: Alfred I duPont Hosp Children, Div Med Genet, Delaware, OH USA Childrens Hosp Philadelphia, Ctr Appl Genom, Philadelphia, PA 19104 USAHauser, Natalie论文数: 0 引用数: 0 h-index: 0机构: Inova Fairfax Hosp, Inova Translat Med Inst, Div Med Genom, Falls Church, VA USA Childrens Hosp Philadelphia, Ctr Appl Genom, Philadelphia, PA 19104 USAInnes, A. Micheil论文数: 0 引用数: 0 h-index: 0机构: Univ Calgary, Dept Med Genet, Calgary, AB, Canada Univ Calgary, Alberta Childrens Hosp Res Inst, Cumming Sch Med, Calgary, AB, Canada Childrens Hosp Philadelphia, Ctr Appl Genom, Philadelphia, PA 19104 USAKeena, Beth论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Dept Pediat, Div Human Genet, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Ctr Appl Genom, Philadelphia, PA 19104 USAKodra, Neslida论文数: 0 引用数: 0 h-index: 0机构: Inova Fairfax Hosp, Inova Translat Med Inst, Div Med Genom, Falls Church, VA USA Childrens Hosp Philadelphia, Ctr Appl Genom, Philadelphia, PA 19104 USAMiller, Rebecca论文数: 0 引用数: 0 h-index: 0机构: Inova Fairfax Hosp, Inova Translat Med Inst, Div Med Genom, Falls Church, VA USA Childrens Hosp Philadelphia, Ctr Appl Genom, Philadelphia, PA 19104 USANelson, Beverly论文数: 0 引用数: 0 h-index: 0机构: St Georges Univ, Dept Clin Skills, True Blue, Grenada Childrens Hosp Philadelphia, Ctr Appl Genom, Philadelphia, PA 19104 USANowaczyk, Malgorzata J.论文数: 0 引用数: 0 h-index: 0机构: McMaster Univ, Hamilton, ON, Canada Childrens Hosp Philadelphia, Ctr Appl Genom, Philadelphia, PA 19104 USARahbeeni, Zuhair论文数: 0 引用数: 0 h-index: 0机构: King Faisal Specialist Hosp & Res Ctr, Ctr Genom Med, Dept Med Genom, Riyadh, Saudi Arabia Childrens Hosp Philadelphia, Ctr Appl Genom, Philadelphia, PA 19104 USABen-Shachar, Shay论文数: 0 引用数: 0 h-index: 0机构: Tel Aviv Univ, Sackler Fac Med, Tel Aviv Med Ctr, Genet Inst, Tel Aviv, Israel Childrens Hosp Philadelphia, Ctr Appl Genom, Philadelphia, PA 19104 USAShieh, Joseph T.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Dept Pediat, Div Genet, San Francisco, CA USA Childrens Hosp Philadelphia, Ctr Appl Genom, Philadelphia, PA 19104 USASlavotinek, Anne论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Dept Pediat, Div Genet, San Francisco, CA USA Childrens Hosp Philadelphia, Ctr Appl Genom, Philadelphia, PA 19104 USASobering, Andrew K.论文数: 0 引用数: 0 h-index: 0机构: St Georges Univ, Dept Biochem, True Blue, Grenada Childrens Hosp Philadelphia, Ctr Appl Genom, Philadelphia, PA 19104 USAAbbott, Mary-Alice论文数: 0 引用数: 0 h-index: 0机构: Univ Massachusetts Med Sch Baystate, Dept Pediat, Med Genet, Springfield, MA USA Childrens Hosp Philadelphia, Ctr Appl Genom, Philadelphia, PA 19104 USAAllain, Dawn C.论文数: 0 引用数: 0 h-index: 0机构: Ohio State Univ, Dept Internal Med, Div Human Genet, Wexner Med Ctr, Columbus, OH 43210 USA Childrens Hosp Philadelphia, Ctr Appl Genom, Philadelphia, PA 19104 USAAmlie-Wolf, Louise论文数: 0 引用数: 0 h-index: 0机构: Alfred I duPont Hosp Children, Div Med Genet, Delaware, OH USA Childrens Hosp Philadelphia, Ctr Appl Genom, Philadelphia, PA 19104 USAAu, Ping Yee Billie论文数: 0 引用数: 0 h-index: 0机构: Univ Calgary, Dept Med Genet, Calgary, AB, Canada Univ Calgary, Alberta Childrens Hosp Res Inst, Cumming Sch Med, Calgary, AB, Canada Childrens Hosp Philadelphia, Ctr Appl Genom, Philadelphia, PA 19104 USABedoukian, Emma论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Dept Pediat, Div Human Genet, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Ctr Appl Genom, Philadelphia, PA 19104 USABeek, Geoffrey论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Minnesota, Minneapolis, MN USA Childrens Hosp Philadelphia, Ctr Appl Genom, Philadelphia, PA 19104 USABarry, James论文数: 0 引用数: 0 h-index: 0机构: San Antonio Mil Med Ctr, Dept Pediat, Div Med Genet, San Antonio, TX USA UT Hlth San Antonio, Dept Pediat, Long Sch Med, San Antonio, TX USA Childrens Hosp Philadelphia, Ctr Appl Genom, Philadelphia, PA 19104 USABerg, Janet论文数: 0 引用数: 0 h-index: 0机构: San Antonio Mil Med Ctr, Dept Pediat, Div Med Genet, San Antonio, TX USA UT Hlth San Antonio, Dept Pediat, Long Sch Med, San Antonio, TX USA Childrens Hosp Philadelphia, Ctr Appl Genom, Philadelphia, PA 19104 USABernstein, Jonathan A.论文数: 0 引用数: 0 h-index: 0机构: Stanford Univ, Sch Med, Dept Pediat, Stanford, CA 94305 USA Childrens Hosp Philadelphia, Ctr Appl Genom, Philadelphia, PA 19104 USACytrynbaum, Cheryl论文数: 0 引用数: 0 h-index: 0机构: Univ Toronto, Hosp Sick Children, Div Clin & Metab Genet, Toronto, ON, Canada Univ Toronto, Hosp Sick Children, Dept Pediat, Toronto, ON, Canada Childrens Hosp Philadelphia, Ctr Appl Genom, Philadelphia, PA 19104 USAChung, Brian Hon-Yin论文数: 0 引用数: 0 h-index: 0机构: Univ Hong Kong, Hong Kong Childrens Hosp, Dept Paediat & Adolescent Med, Pok Fu Lam, Hong Kong, Peoples R China Childrens Hosp Philadelphia, Ctr Appl Genom, Philadelphia, PA 19104 USA
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- [16] De Novo Mutations in MLL Cause Wiedemann-Steiner SyndromeAMERICAN JOURNAL OF HUMAN GENETICS, 2012, 91 (02) : 358 - 364Jones, Wendy D.论文数: 0 引用数: 0 h-index: 0机构: Univ London, St Georges Hosp, SW Thames Reg Genet Serv, London SW17 0RE, England Great Ormond St Hosp Sick Children, NE Thames Reg Genet Serv, London WC1N 3JH, England Kings Coll London, Sch Med, Guys Hosp, Div Genet & Mol Med, London SE1 9RT, EnglandDafou, Dimitra论文数: 0 引用数: 0 h-index: 0机构: Kings Coll London, Sch Med, Guys Hosp, Div Genet & Mol Med, London SE1 9RT, England Kings Coll London, Sch Med, Guys Hosp, Div Genet & Mol Med, London SE1 9RT, EnglandMcEntagart, Meriel论文数: 0 引用数: 0 h-index: 0机构: Univ London, St Georges Hosp, SW Thames Reg Genet Serv, London SW17 0RE, England Kings Coll London, Sch Med, Guys Hosp, Div Genet & Mol Med, London SE1 9RT, EnglandWoollard, Wesley J.论文数: 0 引用数: 0 h-index: 0机构: Kings Coll London, Sch Med, Guys Hosp, Div Genet & Mol Med, London SE1 9RT, England Kings Coll London, Sch Med, Guys Hosp, Div Genet & Mol Med, London SE1 9RT, EnglandElmslie, Frances V.论文数: 0 引用数: 0 h-index: 0机构: Univ London, St Georges Hosp, SW Thames Reg Genet Serv, London SW17 0RE, England Kings Coll London, Sch Med, Guys Hosp, Div Genet & Mol Med, London SE1 9RT, EnglandHolder-Espinasse, Muriel论文数: 0 引用数: 0 h-index: 0机构: CHRU, Serv Genet Clin, Hop Jeanne Flandre, F-59037 Lille, France Guys & St Thomas Natl Hlth Serv Fdn Trust, Guys Hosp, London SE1 9RT, England Kings Coll London, Sch Med, Guys Hosp, Div Genet & Mol Med, London SE1 9RT, EnglandIrving, Melita论文数: 0 引用数: 0 h-index: 0机构: Guys & St Thomas Natl Hlth Serv Fdn Trust, Guys Hosp, London SE1 9RT, England Kings Coll London, Sch Med, Guys Hosp, Div Genet & Mol Med, London SE1 9RT, EnglandSaggar, Anand K.论文数: 0 引用数: 0 h-index: 0机构: Univ London, St Georges Hosp, SW Thames Reg Genet Serv, London SW17 0RE, England Kings Coll London, Sch Med, Guys Hosp, Div Genet & Mol Med, London SE1 9RT, EnglandSmithson, Sarah论文数: 0 引用数: 0 h-index: 0机构: Kings Coll London, Sch Med, Guys Hosp, Div Genet & Mol Med, London SE1 9RT, EnglandTrembath, Richard C.论文数: 0 引用数: 0 h-index: 0机构: Kings Coll London, Sch Med, Guys Hosp, Div Genet & Mol Med, London SE1 9RT, England Univ London, Barts & London Sch Med & Dent, London EC1M 6QB, England Kings Coll London, Sch Med, Guys Hosp, Div Genet & Mol Med, London SE1 9RT, EnglandDeshpande, Charu论文数: 0 引用数: 0 h-index: 0机构: Guys & St Thomas Natl Hlth Serv Fdn Trust, Guys Hosp, London SE1 9RT, England Kings Coll London, Sch Med, Guys Hosp, Div Genet & Mol Med, London SE1 9RT, EnglandSimpson, Michael A.论文数: 0 引用数: 0 h-index: 0机构: Kings Coll London, Sch Med, Guys Hosp, Div Genet & Mol Med, London SE1 9RT, England Kings Coll London, Sch Med, Guys Hosp, Div Genet & Mol Med, London SE1 9RT, England
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