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- [1] ASAH1-related disorders: Description of 15 novel pediatric patients and expansion of the clinical phenotype[J]. CLINICAL GENETICS, 2020, 98 (06) : 598 - 605Mahmoud, Iman G.论文数: 0 引用数: 0 h-index: 0机构: Cairo Univ, Fac Med, Pediat Dept, Neurol & Metab Div, Cairo, Egypt Cairo Univ, Fac Med, Pediat Dept, Neurol & Metab Div, Cairo, EgyptElmonem, Mohamed A.论文数: 0 引用数: 0 h-index: 0机构: Cairo Univ, Fac Med, Clin & Chem Pathol Dept, Cairo, Egypt Cairo Univ, Fac Med, Pediat Dept, Neurol & Metab Div, Cairo, EgyptZaki, Maha S.论文数: 0 引用数: 0 h-index: 0机构: Natl Res Ctr, Clin Genet Dept, Human Genet & Genome Res Div, Giza, Egypt Cairo Univ, Fac Med, Pediat Dept, Neurol & Metab Div, Cairo, EgyptRamadan, Areef论文数: 0 引用数: 0 h-index: 0机构: Cairo Univ, Fac Med, Pediat Dept, Neurol & Metab Div, Cairo, Egypt Cairo Univ, Fac Med, Pediat Dept, Neurol & Metab Div, Cairo, EgyptAl-Menabawy, Nihal M.论文数: 0 引用数: 0 h-index: 0机构: Cairo Univ, Fac Med, Pediat Dept, Neurol & Metab Div, Cairo, Egypt Cairo Univ, Fac Med, Pediat Dept, Neurol & Metab Div, Cairo, EgyptEl-Gamal, Aya论文数: 0 引用数: 0 h-index: 0机构: Cairo Univ, Fac Med, Pediat Dept, Neurol & Metab Div, Cairo, Egypt Cairo Univ, Fac Med, Pediat Dept, Neurol & Metab Div, Cairo, EgyptMansour, Lobna论文数: 0 引用数: 0 h-index: 0机构: Cairo Univ, Fac Med, Pediat Dept, Neurol & Metab Div, Cairo, Egypt Cairo Univ, Fac Med, Pediat Dept, Neurol & Metab Div, Cairo, EgyptIssa, Mahmoud Y.论文数: 0 引用数: 0 h-index: 0机构: Natl Res Ctr, Clin Genet Dept, Human Genet & Genome Res Div, Giza, Egypt Cairo Univ, Fac Med, Pediat Dept, Neurol & Metab Div, Cairo, EgyptAbdel-Hamid, Mohamed S.论文数: 0 引用数: 0 h-index: 0机构: Natl Res Ctr, Human Genet & Genome Res Div, Med Mol Genet, Giza, Egypt Cairo Univ, Fac Med, Pediat Dept, Neurol & Metab Div, Cairo, EgyptAbdel-Hady, Sawsan论文数: 0 引用数: 0 h-index: 0机构: Cairo Univ, Fac Med, Pediat Dept, Neurol & Metab Div, Cairo, Egypt Cairo Univ, Fac Med, Pediat Dept, Neurol & Metab Div, Cairo, EgyptKhalifa, Iman论文数: 0 引用数: 0 h-index: 0机构: Helwan Univ, Pediat Dept, Cairo, Egypt Cairo Univ, Fac Med, Pediat Dept, Neurol & Metab Div, Cairo, EgyptIbrahim, Ahmed论文数: 0 引用数: 0 h-index: 0机构: Suez Canal Univ, Pediat Dept, Ismailia, Egypt Cairo Univ, Fac Med, Pediat Dept, Neurol & Metab Div, Cairo, EgyptSolyom, Alexander论文数: 0 引用数: 0 h-index: 0机构: Enzyvant, Basel, Switzerland Cairo Univ, Fac Med, Pediat Dept, Neurol & Metab Div, Cairo, EgyptRolfs, Arndt论文数: 0 引用数: 0 h-index: 0机构: Rostock Univ, Albrecht Kossel Inst Neurodegenerat, Med Ctr, Rostock, Germany Centogene AG, Rostock, Germany Cairo Univ, Fac Med, Pediat Dept, Neurol & Metab Div, Cairo, EgyptSelim, Laila论文数: 0 引用数: 0 h-index: 0机构: Cairo Univ, Fac Med, Pediat Dept, Neurol & Metab Div, Cairo, Egypt Cairo Univ, Fac Med, Pediat Dept, Neurol & Metab Div, Cairo, Egypt
- [2] Expanding the Phenotypic Spectrum for STIM1-related Disorders: A Case Report[J]. JOURNAL OF CLINICAL IMMUNOLOGY, 2019, 39 : S138 - S139Sura, Anjali S.论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Ann Arbor, MI 48109 USA Univ Michigan, Ann Arbor, MI 48109 USA论文数: 引用数: h-index:机构:Neil, Erin论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Pediat Neurol, Ann Arbor, MI 48109 USA Univ Michigan, Ann Arbor, MI 48109 USAWalkovich, Kelly论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Sch Med, Pediat Hematol Oncol, Ann Arbor, MI 48109 USA Univ Michigan, Ann Arbor, MI 48109 USA
- [3] Dystonia and Parkinsonism in COA7-related disorders: expanding the phenotypic spectrum[J]. JOURNAL OF NEUROLOGY, 2024, 271 (01) : 419 - 430Higuchi, Yujiro论文数: 0 引用数: 0 h-index: 0机构: Kagoshima Univ, Grad Sch Med & Dent Sci, Dept Neurol & Geriatr, 8-35-1 Sakuragaoka, Kagoshima 8908520, Japan Kagoshima Univ, Grad Sch Med & Dent Sci, Dept Neurol & Geriatr, 8-35-1 Sakuragaoka, Kagoshima 8908520, JapanAndo, Masahiro论文数: 0 引用数: 0 h-index: 0机构: Kagoshima Univ, Grad Sch Med & Dent Sci, Dept Neurol & Geriatr, 8-35-1 Sakuragaoka, Kagoshima 8908520, Japan Kagoshima Univ, Grad Sch Med & Dent Sci, Dept Neurol & Geriatr, 8-35-1 Sakuragaoka, Kagoshima 8908520, JapanKojima, Fumikazu论文数: 0 引用数: 0 h-index: 0机构: Kagoshima Univ, Grad Sch Med & Dent Sci, Dept Neurol & Geriatr, 8-35-1 Sakuragaoka, Kagoshima 8908520, Japan Kagoshima Univ, Grad Sch Med & Dent Sci, Dept Neurol & Geriatr, 8-35-1 Sakuragaoka, Kagoshima 8908520, JapanYuan, Junhui论文数: 0 引用数: 0 h-index: 0机构: Kagoshima Univ, Grad Sch Med & Dent Sci, Dept Neurol & Geriatr, 8-35-1 Sakuragaoka, Kagoshima 8908520, Japan Kagoshima Univ, Grad Sch Med & Dent Sci, Dept Neurol & Geriatr, 8-35-1 Sakuragaoka, Kagoshima 8908520, JapanHashiguchi, Akihiro论文数: 0 引用数: 0 h-index: 0机构: Kagoshima Univ, Grad Sch Med & Dent Sci, Dept Neurol & Geriatr, 8-35-1 Sakuragaoka, Kagoshima 8908520, Japan Kagoshima Univ, Grad Sch Med & Dent Sci, Dept Neurol & Geriatr, 8-35-1 Sakuragaoka, Kagoshima 8908520, JapanYoshimura, Akiko论文数: 0 引用数: 0 h-index: 0机构: Kagoshima Univ, Grad Sch Med & Dent Sci, Dept Neurol & Geriatr, 8-35-1 Sakuragaoka, Kagoshima 8908520, Japan Kagoshima Univ, Grad Sch Med & Dent Sci, Dept Neurol & Geriatr, 8-35-1 Sakuragaoka, Kagoshima 8908520, JapanHiramatsu, Yu论文数: 0 引用数: 0 h-index: 0机构: Kagoshima Univ, Grad Sch Med & Dent Sci, Dept Neurol & Geriatr, 8-35-1 Sakuragaoka, Kagoshima 8908520, Japan Kagoshima Univ, Grad Sch Med & Dent Sci, Dept Neurol & Geriatr, 8-35-1 Sakuragaoka, Kagoshima 8908520, JapanNozuma, Satoshi论文数: 0 引用数: 0 h-index: 0机构: Kagoshima Univ, Grad Sch Med & Dent Sci, Dept Neurol & Geriatr, 8-35-1 Sakuragaoka, Kagoshima 8908520, Japan Kagoshima Univ, Grad Sch Med & Dent Sci, Dept Neurol & Geriatr, 8-35-1 Sakuragaoka, Kagoshima 8908520, JapanFukumura, Shinobu论文数: 0 引用数: 0 h-index: 0机构: Sapporo Med Univ, Sch Med, Dept Pediat, Sapporo, Japan Kagoshima Univ, Grad Sch Med & Dent Sci, Dept Neurol & Geriatr, 8-35-1 Sakuragaoka, Kagoshima 8908520, JapanYahikozawa, Hiroyuki论文数: 0 引用数: 0 h-index: 0机构: Yahikozawa Internal Med & Neurol Clin, Nagano, Japan Kagoshima Univ, Grad Sch Med & Dent Sci, Dept Neurol & Geriatr, 8-35-1 Sakuragaoka, Kagoshima 8908520, JapanAbe, Erika论文数: 0 引用数: 0 h-index: 0机构: NHO Akita Natl Hosp, Dept Neurol, Yurihonjo, Japan Kagoshima Univ, Grad Sch Med & Dent Sci, Dept Neurol & Geriatr, 8-35-1 Sakuragaoka, Kagoshima 8908520, JapanToyoshima, Itaru论文数: 0 引用数: 0 h-index: 0机构: NHO Akita Natl Hosp, Dept Neurol, Yurihonjo, Japan Kagoshima Univ, Grad Sch Med & Dent Sci, Dept Neurol & Geriatr, 8-35-1 Sakuragaoka, Kagoshima 8908520, JapanSugawara, Masashiro论文数: 0 引用数: 0 h-index: 0机构: Akita Univ, Grad Sch Med, Dept Neurol, Akita, Japan Kagoshima Univ, Grad Sch Med & Dent Sci, Dept Neurol & Geriatr, 8-35-1 Sakuragaoka, Kagoshima 8908520, JapanOkamoto, Yuji论文数: 0 引用数: 0 h-index: 0机构: Kagoshima Univ, Grad Sch Med & Dent Sci, Dept Neurol & Geriatr, 8-35-1 Sakuragaoka, Kagoshima 8908520, Japan Kagoshima Univ, Fac Med, Sch Hlth Sci, Dept Phys Therapy, Kagoshima, Japan Kagoshima Univ, Grad Sch Med & Dent Sci, Dept Neurol & Geriatr, 8-35-1 Sakuragaoka, Kagoshima 8908520, JapanMatsuura, Eiji论文数: 0 引用数: 0 h-index: 0机构: Kagoshima Univ, Grad Sch Med & Dent Sci, Dept Neurol & Geriatr, 8-35-1 Sakuragaoka, Kagoshima 8908520, Japan Kagoshima Univ, Grad Sch Med & Dent Sci, Dept Neurol & Geriatr, 8-35-1 Sakuragaoka, Kagoshima 8908520, JapanTakashima, Hiroshi论文数: 0 引用数: 0 h-index: 0机构: Kagoshima Univ, Grad Sch Med & Dent Sci, Dept Neurol & Geriatr, 8-35-1 Sakuragaoka, Kagoshima 8908520, Japan Kagoshima Univ, Grad Sch Med & Dent Sci, Dept Neurol & Geriatr, 8-35-1 Sakuragaoka, Kagoshima 8908520, Japan
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GENETICS IN MEDICINE, 2022, 24 (06) : 1227 - 1237Ritter, Alyssa L.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Dept Pediat, Div Human Genet, Philadelphia, PA USA Childrens Hosp Philadelphia, Dept Pediat, Div Human Genet, Philadelphia, PA USAGold, Jessica论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Dept Pediat, Div Human Genet, Philadelphia, PA USA Childrens Hosp Philadelphia, Dept Pediat, Div Human Genet, Philadelphia, PA USAHayashi, Hiroshi论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Dept Pediat, Div Human Genet, Philadelphia, PA USA Childrens Hosp Philadelphia, Dept Pediat, Div Human Genet, Philadelphia, PA USAAckermann, Amanda M.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Dept Pediat, Div Endocrinol & Diabet, Philadelphia, PA USA Childrens Hosp Philadelphia, Dept Pediat, Div Human Genet, Philadelphia, PA USAHanke, Stephanie论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Dept Pediat, Div Endocrinol & Diabet, Philadelphia, PA USA Childrens Hosp Philadelphia, Dept Pediat, Div Human Genet, Philadelphia, PA USASkraban, Cara论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Dept Pediat, Div Human Genet, Philadelphia, PA USA Childrens Hosp Philadelphia, Dept Pediat, Div Human Genet, Philadelphia, PA USACuddapah, Sanmati论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Dept Pediat, Div Human Genet, Philadelphia, PA USA Childrens Hosp Philadelphia, Dept Pediat, Div Human Genet, Philadelphia, PA USABhoj, Elizabeth论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Dept Pediat, Div Human Genet, Philadelphia, PA USA Childrens Hosp Philadelphia, Dept Pediat, Div Human Genet, Philadelphia, PA USALi, Dong论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Ctr Appl Genom, Philadelphia, PA USA Childrens Hosp Philadelphia, Dept Pediat, Div Human Genet, Philadelphia, PA USAKuroda, Yukiko论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Dept Pediat, Div Human Genet, Philadelphia, PA USA Childrens Hosp Philadelphia, Dept Pediat, Div Human Genet, Philadelphia, PA USAWen, Jessica论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Dept Pediat, Div Gastroenterol Hepatol & Nutr, Philadelphia, PA USA Childrens Hosp Philadelphia, Dept Pediat, Div Human Genet, Philadelphia, PA USATakeda, Ryojun论文数: 0 引用数: 0 h-index: 0机构: Nagano Childrens Hosp, Div Genet, Nagano, Japan Childrens Hosp Philadelphia, Dept Pediat, Div Human Genet, Philadelphia, PA USABibb, Audrey论文数: 0 引用数: 0 h-index: 0机构: Emory Univ, Sch Med, Dept Human Genet, Atlanta, GA USA Childrens Hosp Philadelphia, Dept Pediat, Div Human Genet, Philadelphia, PA USAEl Chehadeh, Salima论文数: 0 引用数: 0 h-index: 0机构: Hop Univ Strasbourg, Inst Genet Med Alsace, Serv Genet Med, IGMA, Strasbourg, France Univ Strasbourg, Inst Genet Med Alsace, Lab Genet Med, INSERM,UMR S1112,IGMA, Strasbourg, France Childrens Hosp Philadelphia, Dept Pediat, Div Human Genet, Philadelphia, PA USAPiton, Amelie论文数: 0 引用数: 0 h-index: 0机构: CNRS, Inst Genet Biol Mol Cellulaire, Dept Translat Med & Neurogenet, IGBMC,UMR 7104,Inserm,U1258, Illkirch Graffenstaden, France Hop Univ Strasbourg, Lab Diagnost Genet, Strasbourg, France Childrens Hosp Philadelphia, Dept Pediat, Div Human Genet, Philadelphia, PA USAOhl, Jeanine论文数: 0 引用数: 0 h-index: 0机构: Ctr Med Chirurg & Obstetr CMCO, Serv Assistance Med Procreat, Schiltigheim, France Childrens Hosp Philadelphia, Dept Pediat, Div Human Genet, Philadelphia, PA USAKukolich, Mary K.论文数: 0 引用数: 0 h-index: 0机构: Cook Childrens Hlth Care Syst, Dept Genet, Cook Childrens Med Ctr, Ft Worth, TX USA Childrens Hosp Philadelphia, Dept Pediat, Div Human Genet, Philadelphia, PA USANagasaki, Keisuke论文数: 0 引用数: 0 h-index: 0机构: Niigata Univ Med, Dent Hosp, Dept Pediat, Nagoya, Aichi, Japan Childrens Hosp Philadelphia, Dept Pediat, Div Human Genet, Philadelphia, PA USAKato, Kohji论文数: 0 引用数: 0 h-index: 0机构: Nagoya Univ, Res Inst Environm Med, Dept Genet, Nagoya, Japan Childrens Hosp Philadelphia, Dept Pediat, Div Human Genet, Philadelphia, PA USAOgi, Tomoo论文数: 0 引用数: 0 h-index: 0机构: Nagoya Univ, Res Inst Environm Med, Dept Genet, Nagoya, Japan Childrens Hosp Philadelphia, Dept Pediat, Div Human Genet, Philadelphia, PA USABhatti, Tricia论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Div Anatom Pathol, Philadelphia, PA USA Childrens Hosp Philadelphia, Dept Pediat, Div Human Genet, Philadelphia, PA USARusso, Pierre论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Div Anatom Pathol, Philadelphia, PA USA Childrens Hosp Philadelphia, Dept Pediat, Div Human Genet, Philadelphia, PA USAKrock, Bryan论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Dept Pathol & Lab Med, Div Genom Diagnost, Philadelphia, PA USA Childrens Hosp Philadelphia, Dept Pediat, Div Human Genet, Philadelphia, PA USAMurrell, Jill R.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Dept Pathol & Lab Med, Div Genom Diagnost, Philadelphia, PA USA Childrens Hosp Philadelphia, Dept Pediat, Div Human Genet, Philadelphia, PA USASullivan, Jennifer A.论文数: 0 引用数: 0 h-index: 0机构: Duke Univ Med Ctr, Duke Univ Sch Med, Dept Pediat, Div Med Genet, Durham, NC USA Childrens Hosp Philadelphia, Dept Pediat, Div Human Genet, Philadelphia, PA USAShashi, Vandana论文数: 0 引用数: 0 h-index: 0机构: Duke Univ Med Ctr, Duke Univ Sch Med, Dept Pediat, Div Med Genet, Durham, NC USA Childrens Hosp Philadelphia, Dept Pediat, Div Human Genet, Philadelphia, PA USAStong, Nicholas论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Inst Genom Med, New York, NY USA Childrens Hosp Philadelphia, Dept Pediat, Div Human Genet, Philadelphia, PA USAHakonarson, Hakon论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Ctr Appl Genom, Philadelphia, PA USA Childrens Hosp Philadelphia, Dept Pediat, Div Human Genet, Philadelphia, PA USASawano, Kentaro论文数: 0 引用数: 0 h-index: 0机构: Niigata Univ Med, Dent Hosp, Dept Pediat, Nagoya, Aichi, Japan Childrens Hosp Philadelphia, Dept Pediat, Div Human Genet, Philadelphia, PA USATorti, Erin论文数: 0 引用数: 0 h-index: 0机构: GeneDx, Gaithersburg, Maryland, Liberia Childrens Hosp Philadelphia, Dept Pediat, Div Human Genet, Philadelphia, PA USAWillaert, Rebecca论文数: 0 引用数: 0 h-index: 0机构: GeneDx, Gaithersburg, Maryland, Liberia Childrens Hosp Philadelphia, Dept Pediat, Div Human Genet, Philadelphia, PA USASi, Yue论文数: 0 引用数: 0 h-index: 0机构: GeneDx, Gaithersburg, Maryland, Liberia Childrens Hosp Philadelphia, Dept Pediat, Div Human Genet, Philadelphia, PA USAWilcox, William Ross论文数: 0 引用数: 0 h-index: 0机构: Emory Univ, Sch Med, Dept Human Genet, Atlanta, GA USA Childrens Hosp Philadelphia, Dept Pediat, Div Human Genet, Philadelphia, PA USAWirgenes, Katrine Verena论文数: 0 引用数: 0 h-index: 0机构: Oslo Univ Hosp, Dept Med Genet, Oslo, Norway Univ Oslo, Fac Med, Inst Clin Med, Oslo, Norway Childrens Hosp Philadelphia, Dept Pediat, Div Human Genet, Philadelphia, PA USAThomassen, Kristian论文数: 0 引用数: 0 h-index: 0机构: Oslo Univ Hosp, Dept Radiol & Nucl Med, Oslo, Norway Childrens Hosp Philadelphia, Dept Pediat, Div Human Genet, Philadelphia, PA USACarlotti, Katherine论文数: 0 引用数: 0 h-index: 0机构: Cleveland Clin Fdn, Gen Med Inst, Cleveland Hts, OH USA Childrens Hosp Philadelphia, Dept Pediat, Div Human Genet, Philadelphia, PA USAErwin, Angelika论文数: 0 引用数: 0 h-index: 0机构: Cleveland Clin Fdn, Gen Med Inst, Cleveland Hts, OH USA Childrens Hosp Philadelphia, Dept Pediat, Div Human Genet, Philadelphia, PA USALazier, Joanna论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Eastern Ontario, Dept Med Genet, Ottawa, ON, Canada Childrens Hosp Philadelphia, Dept Pediat, Div Human Genet, Philadelphia, PA USAMarquardt, Thorsten论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Muenster, Dept Pediat, Munster, Germany Childrens Hosp Philadelphia, Dept Pediat, Div Human Genet, Philadelphia, PA USAHe, Miao论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Metab & Adv Diagnost, Philadelphia, PA USA Childrens Hosp Philadelphia, Dept Pediat, Div Human Genet, Philadelphia, PA USAEdmondson, Andrew C.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Dept Pediat, Div Human Genet, Philadelphia, PA USA Childrens Hosp Philadelphia, Dept Pediat, Div Human Genet, Philadelphia, PA USAIzumi, Kosuke论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Dept Pediat, Div Human Genet, Philadelphia, PA USA Childrens Hosp Philadelphia, Dept Pediat, Div Human Genet, Philadelphia, PA USA
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