Lv11
96 积分 2024-10-14 加入
[Identification of a novel STK11 gene mutation in a family affected with hereditary Peutz-Jeghers syndrome]
10小时前
已完结
Can tandem alternative splicing and evasion of premature termination codon surveillance contribute to attenuated Peutz–Jeghers syndrome?
19天前
已完结
Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome
2个月前
已完结
High prevalence of variants in skeletal dysplasia associated genes in individuals with short stature and minor skeletal anomalies
2个月前
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
2个月前
已完结
Mutations in the human homologue of the Drosophila patched gene in Caucasian and African-American nevoid basal cell carcinoma syndrome patients
3个月前
已关闭
Functional studies of twelve mutant V2 vasopressin receptors related to nephrogenic diabetes insipidus
3个月前
已完结
Functional studies of twelve mutant V2 vasopressin receptors related to nephrogenic diabetes insipidus
3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
5个月前
已关闭
皖公网安备34019202002308
