Lv4
410 积分 2023-12-21 加入
[Phenotypic and genotypic characteristics of fever-induced paroxysmal weakness and encephalopathy caused by ATP1A3 pathogenic variants]
14小时前
待确认
Next-generation sequencing panel analysis in 24 Chinese patients with congenital ectopia lentis
2个月前
已完结
Clinical, genetic profile and therapy evaluation of 55 children and 5 adults with sitosterolemia
2个月前
已完结
Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients
2个月前
已完结
Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel
5个月前
已完结
ClinGen variant curation expert panel recommendations for classification of variants in GAMT, GATM and SLC6A8 for cerebral creatine deficiency syndromes
6个月前
已完结
PGAP2-Related Hyperphosphatasia-Mental Retardation Syndrome: Report of a Novel Patient, Toward a Broadening of Phenotypic Spectrum and Therapeutic Perspectives
1年前
已完结
Expanding the Genotype and Phenotype of SETD5-Related Neurodevelopmental Syndrome
1年前
已完结
[Clinical characteristics and genetic analysis of an ethnic Han Chinese child with Keppen-Lubinsky syndrome due to a de novo KCNJ6 mutation]
1年前
已完结
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