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Identification of a Novel Homozygous SCN1B Splice-Site Variant in a Consanguineous Families With Early-Onset Epilepsy: A Case Series and Review of Literature在一个近亲婚配家庭中早期发作癫痫患者中鉴定出一个新型纯合SCN1B剪接位点变异：病例系列及文献综述
Muhammad, Anees; Ramzan, Shafaq; Yousaf, Hammad; Ghumman, Rafia Zafar; Ali, Farhan Bahadar; Khalily, Muhammad Athar; Ali, Asmat; Ali, Wajid; Zia, Salma; Khan, Najeeb Ullah; Sarwar, Muhammad Tahir; Toft, Matias; Iqbal, Zafar; Fatima, Ambrin.png)
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收藏 Confirmation of Exome Sequencing Results Using Sanger Sequencing-Considerations in a Low-Resource Setting利用Sanger测序确认外显子测序结果——低资源环境下的考量Louw, Nadja; Schnell, Samantha; Molatoli, Mhlekazi; Smit, Ingrid; Kerr, Robyn; Devriendt, Koen; Lumaka, Aime; Krause, Amanda; Carstens, Nadia; Lombard, Zane 分享 收藏 Homozygous Pathogenic Variant in Elongation Factor-Like 1 (EFL1) as a Causal Factor in Shwachman-Diamond Syndrome 2 in a Palestinian Child, With Distinct Ocular ManifestationsElongation Factor-Like 1（EFL1）基因纯合致病变异作为巴氏综合征2型在一名巴勒斯坦儿童中的致病因素，并伴有独特的眼部表现Taha, Ibrahim; Minelli, Antonella; Danesino, Cesare; Swalmeh, Abdelrahman; Huraibat, Khalil; Al-Labadi, Liana; Obar, Rema; Beshtawi, Khaled R.; Samrah, Lubna Abu; Mohammad, Yousef Awlad; Farah, Aya; Obar, Abdulrahman; Khalaf, Mutasem; Nasser, Orwa 分享 收藏 A Complex Neurodevelopmental Phenotype Resembling a Chromatinopathy With Concurrent 7p Duplication and 10p Deletion Involving ZMYND11: A Case Report and Literature Review一种复杂的神经发育表型，类似于染色质病，伴有7p重复和10p缺失并涉及ZMYND11：病例报告与文献综述Minale, Elia Marco Paolo; Martone, Stefania; Criscuolo, Chiara; Marra, Roberta; Lasorsa, Vito Alessandro; Ruggiero, Raffaella; Suero, Teresa; Capasso, Mario; Andolfo, Immacolata; Iolascon, Achille; Russo, Roberta; Pinelli, Michele 分享 收藏 Exclusion of CLIC5 as a Candidate Gene and Identification of NEFM as a Possible Novel Gene Correlated With Autosomal Recessive Pure Cerebellar Ataxia in a Highly Consanguineous Family排除CLIC5作为候选基因，并鉴定NEFM为高度近亲婚配家族中常染色体隐性纯小脑共济失调的可能新型相关基因Maltese, Paolo Enrico; Bonetti, Gabriele; Manara, Elena; Tanzi, Benedetta; Bernini, Andrea; Berryman, Mark A.; Tanda, Soichi; Nielsen, Corinne; Casagrande, Silvia; Ferrero, Amanda; Stano, Salvatore; Zuccarino, Riccardo; Barp, Andrea; Chiurazzi, Pietro; Bertelli, Matteo 分享 收藏 
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