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60 积分 2023-01-14 加入
Newborn screening for mucopolysaccharidosis type II: Lessons learned
26天前
已完结
MFSD2A-associated primary microcephaly - Expanding the clinical and mutational spectrum of this ultra-rare disease
29天前
已完结
MFSD2A-associated primary microcephaly - Expanding the clinical and mutational spectrum of this ultra-rare disease
29天前
已完结
Genomic organization of the integrin beta 4 gene (ITGB4): a homozygous splice-site mutation in a patient with junctional epidermolysis bullosa associated with pyloric atresia
1个月前
已关闭
Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy
1个月前
已完结
Phenotype and management of neurologic intronic repeat disorders (NIRDs)
1个月前
已完结
Idiopathic polyhydramnios and postnatal outcomes of children: The role of exome sequencing
1个月前
已完结
Exome sequencing reveals genetic architecture in patients with isolated or syndromic short stature
2个月前
已完结
Exome sequencing reveals genetic architecture in patients with isolated or syndromic short stature
2个月前
已完结
A novel PHKA1 mutation associating myopathy and cognitive impairment: Expanding the spectrum of phosphorylase kinase b (PhK) deficiency
4个月前
已关闭
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