共 21 条
- [1] Novel STAT3 variant causing infantile-onset autoimmune diseaseFRONTIERS IN MEDICINE, 2023, 10Pan, Miao论文数: 0 引用数: 0 h-index: 0机构: George Washington Univ, Childrens Natl Hosp, Div Pathol, Washington, DC 20052 USA George Washington Univ Sch Med & Hlth Sci, Dept Pathol, Washington, DC 20052 USA George Washington Univ Sch Med & Hlth Sci, Dept Pediat, Washington, DC 20052 USA George Washington Univ, Childrens Natl Hosp, Div Pathol, Washington, DC 20052 USAKurtz, Justin论文数: 0 引用数: 0 h-index: 0机构: George Washington Univ, Childrens Natl Hosp, Div Pathol, Washington, DC 20052 USA George Washington Univ Sch Med & Hlth Sci, Dept Pathol, Washington, DC 20052 USA George Washington Univ Sch Med & Hlth Sci, Dept Pediat, Washington, DC 20052 USA George Washington Univ, Childrens Natl Hosp, Div Pathol, Washington, DC 20052 USA
- [2] Severe infantile-onset cardiomyopathy associated with a homozygous deletion in desminNEUROMUSCULAR DISORDERS, 2009, 19 (06) : 418 - 422Pinol-Ripoll, Gerard论文数: 0 引用数: 0 h-index: 0机构: Hosp Clin Univ Zaragoza, Div Neurol, Zaragoza, Spain NINDS, NIH, Bethesda, MD 20892 USAShatunov, Alexey论文数: 0 引用数: 0 h-index: 0机构: NINDS, NIH, Bethesda, MD 20892 USA NINDS, NIH, Bethesda, MD 20892 USACabello, Ana论文数: 0 引用数: 0 h-index: 0机构: Hosp 12 Octubre, Div Neuropathol, E-28041 Madrid, Spain NINDS, NIH, Bethesda, MD 20892 USALarrode, Pilar论文数: 0 引用数: 0 h-index: 0机构: Hosp Clin Univ Zaragoza, Div Neurol, Zaragoza, Spain NINDS, NIH, Bethesda, MD 20892 USAde la Puerta, Iris论文数: 0 引用数: 0 h-index: 0机构: Hosp Clin Univ Zaragoza, Div Cardiol, Zaragoza, Spain NINDS, NIH, Bethesda, MD 20892 USAPelegrin, Juana论文数: 0 引用数: 0 h-index: 0机构: Hosp Clin Univ Zaragoza, Div Cardiol, Zaragoza, Spain NINDS, NIH, Bethesda, MD 20892 USARamos, Feliciano J.论文数: 0 引用数: 0 h-index: 0机构: Univ Zaragoza, Fac Med, Genet Unit, Hosp Clin Univ,Pediat Serv, Zaragoza, Spain NINDS, NIH, Bethesda, MD 20892 USAOlive, Montse论文数: 0 引用数: 0 h-index: 0机构: IDIBELL Bellvitge Hosp, Inst Neuropathol, Barcelona, Spain CIBERNED, Barcelona, Spain NINDS, NIH, Bethesda, MD 20892 USAGoldfarb, Lev G.论文数: 0 引用数: 0 h-index: 0机构: NINDS, NIH, Bethesda, MD 20892 USA NINDS, NIH, Bethesda, MD 20892 USA
- [3] A Unique Presentation of Infantile-Onset Colitis and Eosinophilic Disease without Recurrent Infections Resulting from a Novel Homozygous CARMIL2 VariantJOURNAL OF CLINICAL IMMUNOLOGY, 2019, 39 (04) : 430 - 439Kurolap, Alina论文数: 0 引用数: 0 h-index: 0机构: Rambam Hlth Care Campus, Genet Inst, Haifa, Israel Technion Israel Inst Technol, Ruth & Bruce Rappaport Fac Med, Haifa, Israel Rambam Hlth Care Campus, Genet Inst, Haifa, IsraelAdiv, Orly Eshach论文数: 0 引用数: 0 h-index: 0机构: Technion Israel Inst Technol, Ruth & Bruce Rappaport Fac Med, Haifa, Israel Rambam Hlth Care Campus, Pediat Gastroenterol, Haifa, Israel Rambam Hlth Care Campus, Genet Inst, Haifa, IsraelKonnikova, Liza论文数: 0 引用数: 0 h-index: 0机构: UPMC, Childrens Hosp Pittsburgh, Dept Pediat, Devis Newborn Med, Pittsburgh, PA USA Boston Childrens Hosp, Div Gastroenterol Hepatol & Nutr, Boston, MA USA Harvard Med Sch, Boston, MA 02115 USA Rambam Hlth Care Campus, Genet Inst, Haifa, IsraelWerner, Lael论文数: 0 引用数: 0 h-index: 0机构: Edmond & Lily Safra Childrens Hosp, Sheba Med Ctr, Pediat Gastroenterol Unit, Tel Hashomer, Israel Tel Aviv Univ, Sackler Fac Med, Tel Aviv, Israel Rambam Hlth Care Campus, Genet Inst, Haifa, IsraelGonzaga-Jauregui, Claudia论文数: 0 引用数: 0 h-index: 0机构: Regeneron Genet Ctr, Tarrytown, NY USA Rambam Hlth Care Campus, Genet Inst, Haifa, IsraelSteinberg, Maya论文数: 0 引用数: 0 h-index: 0机构: Rambam Hlth Care Campus, Genet Inst, Haifa, Israel Rambam Hlth Care Campus, Genet Inst, Haifa, IsraelMitsialis, Vanessa论文数: 0 引用数: 0 h-index: 0机构: Boston Childrens Hosp, Div Gastroenterol Hepatol & Nutr, Boston, MA USA Harvard Med Sch, Boston, MA 02115 USA Rambam Hlth Care Campus, Genet Inst, Haifa, IsraelMory, Adi论文数: 0 引用数: 0 h-index: 0机构: Rambam Hlth Care Campus, Genet Inst, Haifa, Israel Rambam Hlth Care Campus, Genet Inst, Haifa, IsraelNunberg, Moran Y.论文数: 0 引用数: 0 h-index: 0机构: Edmond & Lily Safra Childrens Hosp, Sheba Med Ctr, Pediat Gastroenterol Unit, Tel Hashomer, Israel Tel Aviv Univ, Sackler Fac Med, Tel Aviv, Israel Rambam Hlth Care Campus, Genet Inst, Haifa, IsraelWall, Sarah论文数: 0 引用数: 0 h-index: 0机构: Boston Childrens Hosp, Div Gastroenterol Hepatol & Nutr, Boston, MA USA Rambam Hlth Care Campus, Genet Inst, Haifa, IsraelShaoul, Ron论文数: 0 引用数: 0 h-index: 0机构: Technion Israel Inst Technol, Ruth & Bruce Rappaport Fac Med, Haifa, Israel Rambam Hlth Care Campus, Pediat Gastroenterol, Haifa, Israel Rambam Hlth Care Campus, Genet Inst, Haifa, IsraelOverton, John D.论文数: 0 引用数: 0 h-index: 0机构: Regeneron Genet Ctr, Tarrytown, NY USA Rambam Hlth Care Campus, Genet Inst, Haifa, IsraelShuldiner, Alan R.论文数: 0 引用数: 0 h-index: 0机构: Regeneron Genet Ctr, Tarrytown, NY USA Rambam Hlth Care Campus, Genet Inst, Haifa, IsraelZohar, Yaniv论文数: 0 引用数: 0 h-index: 0机构: Technion Israel Inst Technol, Ruth & Bruce Rappaport Fac Med, Haifa, Israel Rambam Hlth Care Campus, Inst Pathol, Haifa, Israel Rambam Hlth Care Campus, Genet Inst, Haifa, IsraelPaperna, Tamar论文数: 0 引用数: 0 h-index: 0机构: Rambam Hlth Care Campus, Genet Inst, Haifa, Israel Rambam Hlth Care Campus, Genet Inst, Haifa, IsraelSnapper, Scott B.论文数: 0 引用数: 0 h-index: 0机构: Boston Childrens Hosp, Div Gastroenterol Hepatol & Nutr, Boston, MA USA Harvard Med Sch, Boston, MA 02115 USA Brigham & Womens Hosp, Div Gastroenterol Hepatol & Endoscopy, 75 Francis St, Boston, MA 02115 USA Rambam Hlth Care Campus, Genet Inst, Haifa, IsraelShouval, Dror S.论文数: 0 引用数: 0 h-index: 0机构: Edmond & Lily Safra Childrens Hosp, Sheba Med Ctr, Pediat Gastroenterol Unit, Tel Hashomer, Israel Tel Aviv Univ, Sackler Fac Med, Tel Aviv, Israel Rambam Hlth Care Campus, Genet Inst, Haifa, IsraelFeldman, Hagit Baris论文数: 0 引用数: 0 h-index: 0机构: Rambam Hlth Care Campus, Genet Inst, Haifa, Israel Technion Israel Inst Technol, Ruth & Bruce Rappaport Fac Med, Haifa, Israel Rambam Hlth Care Campus, Genet Inst, Haifa, Israel
- [4] Novel Infantile-Onset Leukoencephalopathy With High Lactate Level and Slow ImprovementARCHIVES OF NEUROLOGY, 2012, 69 (06) : 718 - 722Steenweg, Marjan E.论文数: 0 引用数: 0 h-index: 0机构: Vrije Univ Amsterdam, Med Ctr, Dept Child Neurol, NL-1081 HV Amsterdam, Netherlands Vrije Univ Amsterdam, Med Ctr, Dept Child Neurol, NL-1081 HV Amsterdam, NetherlandsVanderver, Adeline论文数: 0 引用数: 0 h-index: 0机构: Childrens Natl Med Ctr, Dept Neurol, Washington, DC 20010 USA Vrije Univ Amsterdam, Med Ctr, Dept Child Neurol, NL-1081 HV Amsterdam, NetherlandsCeulemans, Berten论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Antwerp, Dept Child Neurol, Antwerp, Belgium Vrije Univ Amsterdam, Med Ctr, Dept Child Neurol, NL-1081 HV Amsterdam, NetherlandsPrabhakar, Prab论文数: 0 引用数: 0 h-index: 0机构: Great Ormond St Hosp Sick Children, Dept Neurol, London WC1N 3JH, England Vrije Univ Amsterdam, Med Ctr, Dept Child Neurol, NL-1081 HV Amsterdam, NetherlandsRegal, Luc论文数: 0 引用数: 0 h-index: 0机构: Katholieke Univ Leuven Hosp, Dept Pediat, Louvain, Belgium Vrije Univ Amsterdam, Med Ctr, Dept Child Neurol, NL-1081 HV Amsterdam, NetherlandsFattal-Valevski, Aviva论文数: 0 引用数: 0 h-index: 0机构: Tel Aviv Med Ctr & Sch Med, Dana Childrens Hosp, Tel Aviv Sourasky Med Ctr, Dept Paediat Neurol, IL-64239 Tel Aviv, Israel Vrije Univ Amsterdam, Med Ctr, Dept Child Neurol, NL-1081 HV Amsterdam, NetherlandsRicher, Lawrence论文数: 0 引用数: 0 h-index: 0机构: Univ Alberta, Dept Pediat, Div Neurol, Edmonton, AB, Canada Vrije Univ Amsterdam, Med Ctr, Dept Child Neurol, NL-1081 HV Amsterdam, NetherlandsSimonetti, Barbara Goeggel论文数: 0 引用数: 0 h-index: 0机构: Childrens Univ Hosp, Inselspital, Dept Paediat Neurol, Bern, Switzerland Vrije Univ Amsterdam, Med Ctr, Dept Child Neurol, NL-1081 HV Amsterdam, NetherlandsBarkhof, Frederik论文数: 0 引用数: 0 h-index: 0机构: Vrije Univ Amsterdam, Med Ctr, Dept Radiol, NL-1081 HV Amsterdam, Netherlands Vrije Univ Amsterdam, Med Ctr, Dept Child Neurol, NL-1081 HV Amsterdam, NetherlandsRodenburg, Richard J. T.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Pediat, NL-6525 ED Nijmegen, Netherlands Vrije Univ Amsterdam, Med Ctr, Dept Child Neurol, NL-1081 HV Amsterdam, NetherlandsPouwels, Petra J. W.论文数: 0 引用数: 0 h-index: 0机构: Vrije Univ Amsterdam, Med Ctr, Dept Phys & Med Technol, NL-1081 HV Amsterdam, Netherlands Vrije Univ Amsterdam, Med Ctr, Dept Child Neurol, NL-1081 HV Amsterdam, Netherlandsvan der Knaap, Marjo S.论文数: 0 引用数: 0 h-index: 0机构: Vrije Univ Amsterdam, Med Ctr, Dept Child Neurol, NL-1081 HV Amsterdam, Netherlands Vrije Univ Amsterdam, Med Ctr, Dept Child Neurol, NL-1081 HV Amsterdam, Netherlands
- [5] Novel variants in the NARS2 gene as a cause of infantile-onset severe epilepsy leading to fatal refractory status epilepticus: case study and literature reviewNEUROGENETICS, 2021, 22 (04) : 359 - 364Sterbova, K.论文数: 0 引用数: 0 h-index: 0机构: Charles Univ Prague, Fac Med 2, Dept Paediat Neurol, LF UK 2, Prague, Czech Republic Univ Hosp Motol, Prague, Czech Republic Charles Univ Prague, Fac Med 2, Dept Paediat Neurol, LF UK 2, Prague, Czech RepublicVlckova, M.论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Motol, Prague, Czech Republic Charles Univ Prague, Fac Med 2, Dept Biol & Med Genet, Prague, Czech Republic Charles Univ Prague, Fac Med 2, Dept Paediat Neurol, LF UK 2, Prague, Czech RepublicHansikova, H.论文数: 0 引用数: 0 h-index: 0机构: Charles Univ Prague, Fac Med 1, Dept Paediat & Inherited Metab Disorders, Prague, Czech Republic Gen Univ Hosp Prague, Prague, Czech Republic Charles Univ Prague, Fac Med 2, Dept Paediat Neurol, LF UK 2, Prague, Czech RepublicSebronova, V论文数: 0 引用数: 0 h-index: 0机构: Charles Univ Prague, Fac Med 2, Dept Paediat Neurol, LF UK 2, Prague, Czech Republic Univ Hosp Motol, Prague, Czech Republic Charles Univ Prague, Fac Med 2, Dept Paediat Neurol, LF UK 2, Prague, Czech RepublicSedlackova, L.论文数: 0 引用数: 0 h-index: 0机构: Charles Univ Prague, Fac Med 2, Dept Paediat Neurol, LF UK 2, Prague, Czech Republic Univ Hosp Motol, Prague, Czech Republic Charles Univ Prague, Fac Med 2, Dept Paediat Neurol, LF UK 2, Prague, Czech RepublicPavlicek, P.论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Motol, Prague, Czech Republic Charles Univ Prague, Fac Med 3, Dept Anaesthesiol & Resuscitat, Prague, Czech Republic Charles Univ Prague, Fac Med 2, Dept Paediat Neurol, LF UK 2, Prague, Czech RepublicLassuthova, Petra论文数: 0 引用数: 0 h-index: 0机构: Charles Univ Prague, Fac Med 2, Dept Paediat Neurol, LF UK 2, Prague, Czech Republic Univ Hosp Motol, Prague, Czech Republic Charles Univ Prague, Fac Med 2, Dept Paediat Neurol, LF UK 2, Prague, Czech Republic
- [6] Predictive Prenatal Diagnosis for Infantile-onset Inflammatory Bowel Disease Because of Interleukin-10 Signalling DefectsJOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION, 2021, 72 (02) : 276 - 281Ye, Ziqing论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Childrens Hosp, Dept Gastroenterol, 399 Wanyuan Rd, Shanghai 201102, Peoples R China Univ Oxford, Translat Gastroenterol Unit, Oxford, England Fudan Univ, Childrens Hosp, Dept Gastroenterol, 399 Wanyuan Rd, Shanghai 201102, Peoples R ChinaHu, Wenhui论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Childrens Hosp, Dept Gastroenterol, 399 Wanyuan Rd, Shanghai 201102, Peoples R China Fudan Univ, Childrens Hosp, Dept Gastroenterol, 399 Wanyuan Rd, Shanghai 201102, Peoples R ChinaWu, Bingbing论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Childrens Hosp, Key Lab Birth Defects, Shanghai, Peoples R China Fudan Univ, Childrens Hosp, Dept Gastroenterol, 399 Wanyuan Rd, Shanghai 201102, Peoples R ChinaZhang, Yueping论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Obstet & Gynecol Hosp, Shanghai Ji Genet & IVF Inst, Shanghai, Peoples R China Fudan Univ, Childrens Hosp, Dept Gastroenterol, 399 Wanyuan Rd, Shanghai 201102, Peoples R ChinaLei, Caixia论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Obstet & Gynecol Hosp, Shanghai Ji Genet & IVF Inst, Shanghai, Peoples R China Fudan Univ, Childrens Hosp, Dept Gastroenterol, 399 Wanyuan Rd, Shanghai 201102, Peoples R ChinaWilliams, Isabelle论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, Translat Gastroenterol Unit, Oxford, England Fudan Univ, Childrens Hosp, Dept Gastroenterol, 399 Wanyuan Rd, Shanghai 201102, Peoples R ChinaShouval, Dror S.论文数: 0 引用数: 0 h-index: 0机构: Edmond & Lily Safra Childrens Hosp, Sheba Med Ctr, Pediat Gastroenterol Unit, Ramag Gan, Israel Tel Aviv Univ, Sackler Fac Med, Tel Aviv, Israel Fudan Univ, Childrens Hosp, Dept Gastroenterol, 399 Wanyuan Rd, Shanghai 201102, Peoples R ChinaKanegane, Hirokazu论文数: 0 引用数: 0 h-index: 0机构: Tokyo Med & Dent Univ TMDU, Grad Sch Med & Dent Sci, Dept Child Hlth & Dev, Tokyo, Japan Fudan Univ, Childrens Hosp, Dept Gastroenterol, 399 Wanyuan Rd, Shanghai 201102, Peoples R ChinaKim, Kyung Mo论文数: 0 引用数: 0 h-index: 0机构: Univ Ulsan, Childrens Hosp, Asan Med Ctr, Dept Pediat,Coll Med, 88,Olymp Ro 43 Gil, Seoul, South Korea Fudan Univ, Childrens Hosp, Dept Gastroenterol, 399 Wanyuan Rd, Shanghai 201102, Peoples R Chinade Ridder, Lissy论文数: 0 引用数: 0 h-index: 0机构: Erasmus MC, Sophia Childrens Hosp, Dept Paediat Gastroenterol, Rotterdam, Netherlands Fudan Univ, Childrens Hosp, Dept Gastroenterol, 399 Wanyuan Rd, Shanghai 201102, Peoples R ChinaShah, Neil论文数: 0 引用数: 0 h-index: 0机构: Great Ormond St Hosp Children NHS Fdn Trust, Dept Paediat Gastroenterol, London, England Fudan Univ, Childrens Hosp, Dept Gastroenterol, 399 Wanyuan Rd, Shanghai 201102, Peoples R ChinaLing, Galina论文数: 0 引用数: 0 h-index: 0机构: Ben Gurion Univ Negev, Soroka Univ Med Ctr, Pediat Gastroenterol Unit, Beer Sheva, Israel Ben Gurion Univ Negev, Fac Hlth Sci, Beer Sheva, Israel Fudan Univ, Childrens Hosp, Dept Gastroenterol, 399 Wanyuan Rd, Shanghai 201102, Peoples R China论文数: 引用数: h-index:机构:Kotlarz, Daniel论文数: 0 引用数: 0 h-index: 0机构: Ludwig Maximilians Univ Munchen, Univ Hosp, Dr von Hauner Childrens Hosp, Dept Pediat, Munich, Germany Fudan Univ, Childrens Hosp, Dept Gastroenterol, 399 Wanyuan Rd, Shanghai 201102, Peoples R ChinaSnapper, Scott论文数: 0 引用数: 0 h-index: 0机构: Boston Childrens Hosp, Boston, MA USA Harvard Med Sch, Boston, MA 02115 USA Fudan Univ, Childrens Hosp, Dept Gastroenterol, 399 Wanyuan Rd, Shanghai 201102, Peoples R ChinaHorn, Ruth论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, Wellcome Ctr Eth & Humanities, Oxford, England Univ Oxford, Ethox Ctr, Oxford, England Fudan Univ, Childrens Hosp, Dept Gastroenterol, 399 Wanyuan Rd, Shanghai 201102, Peoples R ChinaKlein, Christoph论文数: 0 引用数: 0 h-index: 0机构: Ludwig Maximilians Univ Munchen, Univ Hosp, Dr von Hauner Childrens Hosp, Dept Pediat, Munich, Germany Fudan Univ, Childrens Hosp, Dept Gastroenterol, 399 Wanyuan Rd, Shanghai 201102, Peoples R ChinaMuise, Aleixo M.论文数: 0 引用数: 0 h-index: 0机构: Univ Toronto, Hosp Sick Children, SickKids Inflammatory Bowel Dis Ctr, Toronto, ON, Canada Univ Toronto, Hosp Sick Children, Cell Biol Program, Res Inst, Toronto, ON, Canada Univ Toronto, Hosp Sick Children, Dept Pediat, Div Gastroenterol Hepatol & Nutr, Toronto, ON, Canada Fudan Univ, Childrens Hosp, Dept Gastroenterol, 399 Wanyuan Rd, Shanghai 201102, Peoples R ChinaHuang, Ying论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Childrens Hosp, Dept Gastroenterol, 399 Wanyuan Rd, Shanghai 201102, Peoples R China Fudan Univ, Childrens Hosp, Dept Gastroenterol, 399 Wanyuan Rd, Shanghai 201102, Peoples R ChinaUhlig, Holm H.论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, Dept Pediat, Oxford, England Univ Oxford, Biomed Res Ctr, Oxford, England Translat Gastroenterol Unit, Oxford, England Fudan Univ, Childrens Hosp, Dept Gastroenterol, 399 Wanyuan Rd, Shanghai 201102, Peoples R China
- [7] Clinical outcome of infantile-onset inflammatory bowel disease in 102 patients with interleukin-10 signalling deficiencyALIMENTARY PHARMACOLOGY & THERAPEUTICS, 2022, 55 (11) : 1414 - 1422Ye, Ziqing论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Dept Gastroenterol, Childrens Hosp, 399 Wanyuan Rd, Shanghai 201102, Peoples R China Fudan Univ, Dept Gastroenterol, Childrens Hosp, 399 Wanyuan Rd, Shanghai 201102, Peoples R ChinaQian, Lai论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Dept Gastroenterol, Childrens Hosp, 399 Wanyuan Rd, Shanghai 201102, Peoples R China Fudan Univ, Dept Gastroenterol, Childrens Hosp, 399 Wanyuan Rd, Shanghai 201102, Peoples R ChinaHu, Wenhui论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Dept Gastroenterol, Childrens Hosp, 399 Wanyuan Rd, Shanghai 201102, Peoples R China Fudan Univ, Dept Gastroenterol, Childrens Hosp, 399 Wanyuan Rd, Shanghai 201102, Peoples R ChinaMiao, Shijian论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Dept Gastroenterol, Childrens Hosp, 399 Wanyuan Rd, Shanghai 201102, Peoples R China Fudan Univ, Dept Gastroenterol, Childrens Hosp, 399 Wanyuan Rd, Shanghai 201102, Peoples R ChinaWang, Yuhuan论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Dept Gastroenterol, Childrens Hosp, 399 Wanyuan Rd, Shanghai 201102, Peoples R China Fudan Univ, Dept Gastroenterol, Childrens Hosp, 399 Wanyuan Rd, Shanghai 201102, Peoples R ChinaLu, Junping论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Dept Gastroenterol, Childrens Hosp, 399 Wanyuan Rd, Shanghai 201102, Peoples R China Fudan Univ, Dept Gastroenterol, Childrens Hosp, 399 Wanyuan Rd, Shanghai 201102, Peoples R ChinaZhou, Ying论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Dept Gastroenterol, Childrens Hosp, 399 Wanyuan Rd, Shanghai 201102, Peoples R China Fudan Univ, Dept Gastroenterol, Childrens Hosp, 399 Wanyuan Rd, Shanghai 201102, Peoples R ChinaLu, Xiaolan论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Dept Gastroenterol, Childrens Hosp, 399 Wanyuan Rd, Shanghai 201102, Peoples R China Fudan Univ, Dept Gastroenterol, Childrens Hosp, 399 Wanyuan Rd, Shanghai 201102, Peoples R ChinaZhang, Ye论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Dept Gastroenterol, Childrens Hosp, 399 Wanyuan Rd, Shanghai 201102, Peoples R China Fudan Univ, Dept Gastroenterol, Childrens Hosp, 399 Wanyuan Rd, Shanghai 201102, Peoples R ChinaZheng, Cuifang论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Dept Gastroenterol, Childrens Hosp, 399 Wanyuan Rd, Shanghai 201102, Peoples R China Fudan Univ, Dept Gastroenterol, Childrens Hosp, 399 Wanyuan Rd, Shanghai 201102, Peoples R ChinaSun, Hua论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Dept Gastroenterol, Childrens Hosp, 399 Wanyuan Rd, Shanghai 201102, Peoples R China Fudan Univ, Dept Gastroenterol, Childrens Hosp, 399 Wanyuan Rd, Shanghai 201102, Peoples R ChinaTang, Wenjuan论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Dept Gastroenterol, Childrens Hosp, 399 Wanyuan Rd, Shanghai 201102, Peoples R China Fudan Univ, Dept Gastroenterol, Childrens Hosp, 399 Wanyuan Rd, Shanghai 201102, Peoples R ChinaTang, Zifei论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Dept Gastroenterol, Childrens Hosp, 399 Wanyuan Rd, Shanghai 201102, Peoples R China Fudan Univ, Dept Gastroenterol, Childrens Hosp, 399 Wanyuan Rd, Shanghai 201102, Peoples R ChinaSun, Song论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Dept Surg, Childrens Hosp, Shanghai, Peoples R China Fudan Univ, Dept Gastroenterol, Childrens Hosp, 399 Wanyuan Rd, Shanghai 201102, Peoples R ChinaDong, Kuiran论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Dept Surg, Childrens Hosp, Shanghai, Peoples R China Fudan Univ, Dept Gastroenterol, Childrens Hosp, 399 Wanyuan Rd, Shanghai 201102, Peoples R ChinaQian, Xiaowen论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Dept Hematol & Oncol, Childrens Hosp, 399 Wanyuan Rd, Shanghai 201102, Peoples R China Fudan Univ, Dept Gastroenterol, Childrens Hosp, 399 Wanyuan Rd, Shanghai 201102, Peoples R ChinaZhai, Xiaowen论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Dept Hematol & Oncol, Childrens Hosp, 399 Wanyuan Rd, Shanghai 201102, Peoples R China Fudan Univ, Dept Gastroenterol, Childrens Hosp, 399 Wanyuan Rd, Shanghai 201102, Peoples R ChinaHuang, Ying论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Dept Gastroenterol, Childrens Hosp, 399 Wanyuan Rd, Shanghai 201102, Peoples R China Fudan Univ, Dept Gastroenterol, Childrens Hosp, 399 Wanyuan Rd, Shanghai 201102, Peoples R China
- [8] Childhood-onset mild diabetes caused by a homozygous novel variant in the glucokinase geneHORMONES-INTERNATIONAL JOURNAL OF ENDOCRINOLOGY AND METABOLISM, 2022, 21 (01): : 163 - 169Filibeli, Berna Eroglu论文数: 0 引用数: 0 h-index: 0机构: Univ Med Sci, Tepecik Training & Res Hosp, Dept Pediat Endocrinol, Izmir, Turkey Univ Med Sci, Tepecik Training & Res Hosp, Dept Pediat Endocrinol, Izmir, TurkeyCatli, Gonul论文数: 0 引用数: 0 h-index: 0机构: Izmir Katip Celebi Univ, Dept Pediat Endocrinol, Izmir, Turkey Univ Med Sci, Tepecik Training & Res Hosp, Dept Pediat Endocrinol, Izmir, TurkeyAyranci, Ilkay论文数: 0 引用数: 0 h-index: 0机构: Univ Med Sci, Tepecik Training & Res Hosp, Dept Pediat Endocrinol, Izmir, Turkey Univ Med Sci, Tepecik Training & Res Hosp, Dept Pediat Endocrinol, Izmir, TurkeyManyas, Hayrullah论文数: 0 引用数: 0 h-index: 0机构: Univ Med Sci, Tepecik Training & Res Hosp, Dept Pediat Endocrinol, Izmir, Turkey Univ Med Sci, Tepecik Training & Res Hosp, Dept Pediat Endocrinol, Izmir, TurkeyKirbiyik, Ozgur论文数: 0 引用数: 0 h-index: 0机构: Univ Med Sci, Tepecik Training & Res Hosp, Dept Genet, Izmir, Turkey Univ Med Sci, Tepecik Training & Res Hosp, Dept Pediat Endocrinol, Izmir, TurkeyDundar, Bumin论文数: 0 引用数: 0 h-index: 0机构: Izmir Katip Celebi Univ, Dept Pediat Endocrinol, Izmir, Turkey Univ Med Sci, Tepecik Training & Res Hosp, Dept Pediat Endocrinol, Izmir, Turkey
- [9] Genotype, phenotype and treatment outcomes of 17 Malaysian patients with infantile-onset Pompe disease and the identification of 3 novel GAA variantsORPHANET JOURNAL OF RARE DISEASES, 2023, 18 (01)Chan, Mei-Yan论文数: 0 引用数: 0 h-index: 0机构: Hosp Kuala Lumpur, Dept Genet, Minist Hlth Malaysia, Jalan Pahang, Kuala Lumpur 50586, Malaysia Hosp Kuala Lumpur, Dept Genet, Minist Hlth Malaysia, Jalan Pahang, Kuala Lumpur 50586, MalaysiaJalil, Julaina Abdul论文数: 0 引用数: 0 h-index: 0机构: Minist Hlth Malaysia, Inst Med Res, Unit Biochem, Kuala Lumpur, Malaysia Hosp Kuala Lumpur, Dept Genet, Minist Hlth Malaysia, Jalan Pahang, Kuala Lumpur 50586, MalaysiaYakob, Yusnita论文数: 0 引用数: 0 h-index: 0机构: Minist Hlth Malaysia, NIH, Specialised Diagnost Ctr, Unit Mol Diagnost, Kuala Lumpur, Malaysia Hosp Kuala Lumpur, Dept Genet, Minist Hlth Malaysia, Jalan Pahang, Kuala Lumpur 50586, MalaysiaWahab, Siti Aishah Abdul论文数: 0 引用数: 0 h-index: 0机构: Minist Hlth Malaysia, NIH, Specialised Diagnost Ctr, Unit Mol Diagnost, Kuala Lumpur, Malaysia Hosp Kuala Lumpur, Dept Genet, Minist Hlth Malaysia, Jalan Pahang, Kuala Lumpur 50586, MalaysiaAli, Ernie Zuraida论文数: 0 引用数: 0 h-index: 0机构: Minist Hlth Malaysia, NIH, Nutrit Metab & Cardiovasc Res Ctr, Unit Inborn Errors Metab & Genet,Inst Med Res, Kuala Lumpur, Malaysia Hosp Kuala Lumpur, Dept Genet, Minist Hlth Malaysia, Jalan Pahang, Kuala Lumpur 50586, MalaysiaKhalid, Mohd Khairul Nizam Mohd论文数: 0 引用数: 0 h-index: 0机构: Minist Hlth Malaysia, NIH, Specialised Diagnost Ctr, Unit Mol Diagnost, Kuala Lumpur, Malaysia Hosp Kuala Lumpur, Dept Genet, Minist Hlth Malaysia, Jalan Pahang, Kuala Lumpur 50586, MalaysiaLeong, Huey-Yin论文数: 0 引用数: 0 h-index: 0机构: Hosp Kuala Lumpur, Dept Genet, Minist Hlth Malaysia, Jalan Pahang, Kuala Lumpur 50586, Malaysia Hosp Kuala Lumpur, Dept Genet, Minist Hlth Malaysia, Jalan Pahang, Kuala Lumpur 50586, MalaysiaChew, Hui-Bein论文数: 0 引用数: 0 h-index: 0机构: Hosp Kuala Lumpur, Dept Genet, Minist Hlth Malaysia, Jalan Pahang, Kuala Lumpur 50586, Malaysia Hosp Kuala Lumpur, Dept Genet, Minist Hlth Malaysia, Jalan Pahang, Kuala Lumpur 50586, MalaysiaSivabalakrishnan, Jeya Bawani论文数: 0 引用数: 0 h-index: 0机构: Hosp Tunku Azizah, Dept Pediat Cardiol, Minist Hlth Malaysia, Kuala Lumpur, Malaysia Hosp Kuala Lumpur, Dept Genet, Minist Hlth Malaysia, Jalan Pahang, Kuala Lumpur 50586, MalaysiaNgu, Lock-Hock论文数: 0 引用数: 0 h-index: 0机构: Hosp Kuala Lumpur, Dept Genet, Minist Hlth Malaysia, Jalan Pahang, Kuala Lumpur 50586, Malaysia Hosp Kuala Lumpur, Dept Genet, Minist Hlth Malaysia, Jalan Pahang, Kuala Lumpur 50586, Malaysia
- [10] Discovery of a novel homozygous SOD1 truncating variant bolsters infantile SOD1 deficiency syndromeMOLECULAR BIOLOGY REPORTS, 2024, 51 (01)Dogan, Mustafa论文数: 0 引用数: 0 h-index: 0机构: Univ Hlth Sci Basaksehir Cam, Dept Med Genet, Basaksehir Mahallesi G 434 Caddesi 2, Istanbul, Turkiye Sakura State Hosp, Basaksehir Mahallesi G 434 Caddesi 2L, Istanbul, Turkiye Univ Hlth Sci Basaksehir Cam, Dept Med Genet, Basaksehir Mahallesi G 434 Caddesi 2, Istanbul, TurkiyeTerali, Kerem论文数: 0 引用数: 0 h-index: 0机构: Cyprus Int Univ, Fac Med, Dept Med Biochem, Nicosia, Cyprus Univ Hlth Sci Basaksehir Cam, Dept Med Genet, Basaksehir Mahallesi G 434 Caddesi 2, Istanbul, TurkiyeEroz, Recep论文数: 0 引用数: 0 h-index: 0机构: Aksaray Univ, Fac Med, Dept Med Genet, Aksaray, Turkiye Univ Hlth Sci Basaksehir Cam, Dept Med Genet, Basaksehir Mahallesi G 434 Caddesi 2, Istanbul, TurkiyeKilic, Hueseyin论文数: 0 引用数: 0 h-index: 0机构: Istanbul Univ, Cerrahpasa Fac Med, Dept Pediat Neurol, Istanbul, Turkiye Univ Hlth Sci Basaksehir Cam, Dept Med Genet, Basaksehir Mahallesi G 434 Caddesi 2, Istanbul, TurkiyeGezdirici, Alper论文数: 0 引用数: 0 h-index: 0机构: Univ Hlth Sci Basaksehir Cam, Dept Med Genet, Basaksehir Mahallesi G 434 Caddesi 2, Istanbul, Turkiye Sakura State Hosp, Basaksehir Mahallesi G 434 Caddesi 2L, Istanbul, Turkiye Univ Hlth Sci Basaksehir Cam, Dept Med Genet, Basaksehir Mahallesi G 434 Caddesi 2, Istanbul, TurkiyeGonullu, Burcin论文数: 0 引用数: 0 h-index: 0机构: Batman Res & Training Hosp, Dept Pediat Neurol, Batman, Turkiye Univ Hlth Sci Basaksehir Cam, Dept Med Genet, Basaksehir Mahallesi G 434 Caddesi 2, Istanbul, Turkiye