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- [2] Expanding the phenotypic spectrum for CDK8-related disease: A case report[J]. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2024, 194 (05)Comeau, Dominique论文数: 0 引用数: 0 h-index: 0机构: Dr Georges L Dumont Univ Hosp Ctr, Vital Hlth Network, Moncton, NB, Canada Vitalite Hlth Network, Dr Georges L Dumont Univ Hosp Ctr, 330 Univ Ave, Moncton, NB E1C 2Z3, Canada Dr Georges L Dumont Univ Hosp Ctr, Vital Hlth Network, Moncton, NB, CanadaBelliveau, Jenna论文数: 0 引用数: 0 h-index: 0机构: Univ Sherbrooke, Ctr Format Med New Brunswick, Moncton, NB, Canada Dr Georges L Dumont Univ Hosp Ctr, Vital Hlth Network, Moncton, NB, CanadaBouhamdani, Nadia论文数: 0 引用数: 0 h-index: 0机构: Dr Georges L Dumont Univ Hosp Ctr, Vital Hlth Network, Moncton, NB, Canada Univ Sherbrooke, Ctr Format Med New Brunswick, Moncton, NB, Canada Vitalite Hlth Network, Dr Georges L Dumont Univ Hosp Ctr, Med Genet Dept, Moncton, NB, Canada Dr Georges L Dumont Univ Hosp Ctr, Vital Hlth Network, Moncton, NB, CanadaBen Amor, Mouna论文数: 0 引用数: 0 h-index: 0机构: Vitalite Hlth Network, Dr Georges L Dumont Univ Hosp Ctr, Med Genet Dept, Moncton, NB, Canada Dr Georges L Dumont Univ Hosp Ctr, Vital Hlth Network, Moncton, NB, Canada
- [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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