Lv1
86 积分 2024-10-14 加入
Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome
14天前
已完结
High prevalence of variants in skeletal dysplasia associated genes in individuals with short stature and minor skeletal anomalies
29天前
已完结
A homozygous missense variant in the WRN gene segregating in a family with progressive pulmonary failure with recurrent spontaneous pneumothorax and interstitial lung disease
29天前
已完结
Mutations in the human homologue of the Drosophila patched gene in Caucasian and African-American nevoid basal cell carcinoma syndrome patients
1个月前
已关闭
Functional studies of twelve mutant V2 vasopressin receptors related to nephrogenic diabetes insipidus
1个月前
已完结
Functional studies of twelve mutant V2 vasopressin receptors related to nephrogenic diabetes insipidus
1个月前
已关闭
A case report of two Moroccan patients with hereditary neurological disorders and molecular modeling study on the S72L de novo PMP22 variant
3个月前
已关闭
A retrospective review of reclassification of Variants of Uncertain Significance in a pediatric epilepsy cohort undergoing genetic panel testing
3个月前
已完结
Evaluation of an automated genome interpretation model for rare disease routinely used in a clinical genetic laboratory
3个月前
已完结
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