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Paroxysmal limb dystonias associated with GABBR2 pathogenic variant: A case-based literature review
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Novel TEAD1 gene variant in a Serbian family with Sveinsson's chorioretinal atrophy
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Retinitis Pigmentosa and Therapeutic Candidates
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[Clinical and genetic analysis of a novel CHD4 gene variant in a Chinese patient with Sifrim-Hitz-Weiss syndrome]
1个月前
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VPS13C-associated Parkinson's disease: Two novel cases and review of the literature
1个月前
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Phenotypic heterogeneity associated with KIF21A: Two new cases and review of the literature
1个月前
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The mutation spectrum of Parkinson‐disease‐related genes in early‐onset Parkinson's disease in ethnic Chinese
1个月前
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Clinicopathologic features and surgery-related outcomes of duodenal adenocarcinoma: A multicenter retrospective study
1个月前
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Srcap haploinsufficiency induced autistic-like behaviors in mice through disruption of Satb2 expression
2个月前
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Novel UBE3B mutations: report of eight patients with Kaufman oculocerebrofacial syndrome with additional clinical findings from a highly consanguineous population
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