Lv11
20 积分 2023-11-30 加入
Origins of SOPH syndrome: A study of 93 Yakut patients with review of C‐terminal phenotype
3小时前
待确认
Loss of function inROBO1is associated with tetralogy of Fallot and septal defects
5天前
已完结
Exome Sequencing has a high diagnostic rate in sporadic congenital hypopituitarism and reveals novel candidate genes
5天前
已完结
Exome Sequencing has a high diagnostic rate in sporadic congenital hypopituitarism and reveals novel candidate genes
5天前
已完结
Biallelic variants in SLC35C1 as a cause of isolated short stature with intellectual disability
6天前
已完结
Mutations in the SLC35C1 gene, contributing to significant differences in fucosylation patterns, may underlie the diverse phenotypic manifestations observed in leukocyte adhesion deficiency type II patients
6天前
已完结
MGA loss-of-function variants cause premature ovarian insufficiency
6天前
已完结
One recurrent heterozygous mutation of the PLCD1 gene in a Chinese family with hereditary leukonychia: A case report and genotype–phenotype correlation analysis
10天前
已完结
Genotype and phenotype characterization of primary hypertrophic osteoarthropathy type 2 and chronic enteropathy associated with SLCO2A1: Report of two cases and literature review
12天前
已完结
GDF5 mutation case report and a systematic review of molecular and clinical spectrum: Expanding current knowledge on genotype-phenotype correlations
12天前
已完结
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