Lv4
552 积分 2024-12-02 加入
Development and validation of a new genotype–phenotype correlation for Niemann‐Pick disease type C1
4天前
已完结
AG‐exclusion zone revisited: Lessons to learn from 91 intronic NF1 3′ splice site mutations outside the canonical AG‐dinucleotides
4天前
已完结
Prenatal Diagnosis of Autosomal Dominant Pseudohypoaldosteronism due to NR3C2 Gene Mutation: Immediate Postnatal Oral Saline Therapy Prevents the Clinical Manifestations Resulting from Impaired Salt Balance
15天前
已完结
CUL3‐Related Neurodevelopmental Disorder: Expanding the Prenatal Phenotype
22天前
已完结
[Analysis of clinical phenotype and TGM1 gene mutation in a child with neonatal congenital ichthyosis]
29天前
已完结
Prenatal ultrasound detection of collodion membrane in association with an autosomal recessive congenital ichthyosis due to transglutaminase 1 deficiency
29天前
已完结
Whole exome sequencing identifies novel pathogenic variants in TGM1 and ALOX12B in patients with hereditary ichthyosis
29天前
已完结
[Phenotypic and genotypic features of twenty children with classic pantothenate kinase-associated neurodegeneration]
2个月前
已完结
NovelADAMTSL4gene mutations in Chinese patients with isolated ectopia lentis
2个月前
已完结
BRCA1 and BRCA2 germline mutations in 85 Iranian breast cancer patients
3个月前
已关闭
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