Lv21
120 积分 2020-09-21 加入
Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with ZNF148 mutations
3小时前
已完结
Expressed full-length von Willebrand factor containing missense mutations linked to type IIB von Willebrand disease shows enhanced binding to platelets
5天前
已完结
Clinical and genetic overlap between congenital hypogonadotropic hypogonadism and cornelia de lange syndrome
12天前
已关闭
Incidence and phenotypes of childhood-onset genetic epilepsies: a prospective population-based national cohort
4个月前
已完结
Phenotypic description of a large French series of individuals with Potocki-Lupski syndrome
5个月前
已关闭
DNA methylation episignature for Smith-Magenis and Potocki-Lupski syndromes: a mirror perspective
5个月前
已完结
Genetic spectrum of Kallmann syndrome: Single-center experience and systematic review
7个月前
已完结
COL4A1 and COL4A2 Gene Duplication or Triplication as a Genetic Cause of Cerebral Small Vessel Disease in Adults
8个月前
已完结
Unique case of trisomy 2p24.3-pter with no associated monosomy
1年前
已完结
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