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- [22] CHST3-related skeletal dysplasia in 14 patients: Identification of 8 novel variants and further expansion of the phenotypic spectrumAMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2023, 191 (08) : 2100 - 2112Otaify, Ghada A.论文数: 0 引用数: 0 h-index: 0机构: Natl Res Ctr, Human Genet & Genome Res Inst, Clin Genet Dept, Cairo, Egypt Natl Res Ctr, Human Genet & Genome Res Inst, Clin Genet Dept, Cairo, EgyptElhossini, Rasha M.论文数: 0 引用数: 0 h-index: 0机构: Natl Res Ctr, Human Genet & Genome Res Inst, Clin Genet Dept, Cairo, Egypt Natl Res Ctr, Human Genet & Genome Res Inst, Clin Genet Dept, Cairo, EgyptAbdel-Ghafar, Sherif F.论文数: 0 引用数: 0 h-index: 0机构: Natl Res Ctr, Human Genet & Genome Res Inst, Med Mol Genet Dept, Cairo, Egypt Natl Res Ctr, Human Genet & Genome Res Inst, Clin Genet Dept, Cairo, EgyptSayed, Inas M.论文数: 0 引用数: 0 h-index: 0机构: Natl Res Ctr, Human Genet & Genome Res Inst, Orodental Genet Dept, Cairo, Egypt Natl Res Ctr, Human Genet & Genome Res Inst, Clin Genet Dept, Cairo, EgyptAbdel-Salam, Ghada M. H.论文数: 0 引用数: 0 h-index: 0机构: Natl Res Ctr, Human Genet & Genome Res Inst, Clin Genet Dept, Cairo, Egypt Natl Res Ctr, Human Genet & Genome Res Inst, Clin Genet Dept, Cairo, EgyptAglan, Mona S.论文数: 0 引用数: 0 h-index: 0机构: Natl Res Ctr, Human Genet & Genome Res Inst, Clin Genet Dept, Cairo, Egypt Natl Res Ctr, Human Genet & Genome Res Inst, Clin Genet Dept, El-Tahrir St,Dokki, Cairo, Egypt Natl Res Ctr, Human Genet & Genome Res Inst, Clin Genet Dept, 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 Inst, Med Mol Genet Dept, Cairo, Egypt Natl Res Ctr, Med Mol Genet Dept, Human Genet & Genome Res Inst, El-Tahrir St,Dokki, Cairo, Egypt Natl Res Ctr, Human Genet & Genome Res Inst, Clin Genet Dept, Cairo, Egypt
- [23] Expanding the phenotypic spectrum of DNM1-related disorders: novel GTPase domain variants and their diverse neurological outcomesNEUROLOGICAL SCIENCES, 2025,Liu, Juan论文数: 0 引用数: 0 h-index: 0机构: Hunan Childrens Hosp, Dept Rehabil, Changsha, Peoples R China Hunan Childrens Hosp, Dept Rehabil, Changsha, Peoples R ChinaHu, Jihong论文数: 0 引用数: 0 h-index: 0机构: Hunan Childrens Hosp, Dept Rehabil, Changsha, Peoples R China Hunan Childrens Hosp, Dept Rehabil, Changsha, Peoples R ChinaDuan, Yaqin论文数: 0 引用数: 0 h-index: 0机构: Hunan Childrens Hosp, Dept Rehabil, Changsha, Peoples R China Hunan Childrens Hosp, Dept Rehabil, Changsha, Peoples R ChinaTan, Yaqiong论文数: 0 引用数: 0 h-index: 0机构: Hunan Childrens Hosp, Dept Rehabil, Changsha, Peoples R China Hunan Childrens Hosp, Dept Rehabil, Changsha, Peoples R ChinaGao, Quwen论文数: 0 引用数: 0 h-index: 0机构: Foresea Life Insurance Shaoguan Hosp, Dept Neurol, 15th Danxia Rd, Shaoguan 510630, Guangdong, Peoples R China Hunan Childrens Hosp, Dept Rehabil, Changsha, Peoples R ChinaWu, Gefei论文数: 0 引用数: 0 h-index: 0机构: Huazhong Univ Sci & Technol, Wuhan Childrens Hosp, Wuhan Maternal & Child Healthcare Hosp, Tongji Med Coll,Dept Neurol, 100th Hong Kong Rd, Wuhan 430015, Hubei, Peoples R China Hunan Childrens Hosp, Dept Rehabil, Changsha, Peoples R China
- [24] Characterization of Two Novel Intronic Variants Affecting Splicing in FBN1-Related DisordersGENES, 2019, 10 (06):Fusco, Carmela论文数: 0 引用数: 0 h-index: 0机构: Fdn IRCCS Casa Sollievo Sofferenza, Div Med Genet, I-71013 San Giovanni Rotondo, FG, Italy Fdn IRCCS Casa Sollievo Sofferenza, Div Med Genet, I-71013 San Giovanni Rotondo, FG, ItalyMorlino, Silvia论文数: 0 引用数: 0 h-index: 0机构: Sapienza Univ, San Camillo Forlaninin Hosp, Dept Mol Med, Lab Med Genet, I-00152 Rome, Italy Fdn IRCCS Casa Sollievo Sofferenza, Div Med Genet, I-71013 San Giovanni Rotondo, FG, ItalyMicale, Lucia论文数: 0 引用数: 0 h-index: 0机构: Fdn IRCCS Casa Sollievo Sofferenza, Div Med Genet, I-71013 San Giovanni Rotondo, FG, Italy Fdn IRCCS Casa Sollievo Sofferenza, Div Med Genet, I-71013 San Giovanni Rotondo, FG, ItalyFerraris, Alessandro论文数: 0 引用数: 0 h-index: 0机构: Sapienza Univ, San Camillo Forlaninin Hosp, Dept Mol Med, Lab Med Genet, I-00152 Rome, Italy Fdn IRCCS Casa Sollievo Sofferenza, Div Med Genet, I-71013 San Giovanni Rotondo, FG, ItalyGrammatico, Paola论文数: 0 引用数: 0 h-index: 0机构: Sapienza Univ, San Camillo Forlaninin Hosp, Dept Mol Med, Lab Med Genet, I-00152 Rome, Italy Fdn IRCCS Casa Sollievo Sofferenza, Div Med Genet, I-71013 San Giovanni Rotondo, FG, ItalyCastori, Marco论文数: 0 引用数: 0 h-index: 0机构: Fdn IRCCS Casa Sollievo Sofferenza, Div Med Genet, I-71013 San Giovanni Rotondo, FG, Italy Fdn IRCCS Casa Sollievo Sofferenza, Div Med Genet, I-71013 San Giovanni Rotondo, FG, Italy
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