Lv5
980 积分 2026-06-05 加入
Potter Deformation Sequence Caused by 17q12 Deletion: A Lethal Constellation
10小时前
待确认
Prenatal diagnosis of HNF1B‐associated renal cysts: Is there a need to differentiate intragenic variants from 17q12 microdeletion syndrome?
10小时前
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The HNF1B score is a simple tool to select patients for HNF1B gene analysis
10小时前
待确认
Characterization of the prenatal renal phenotype associated with 17q12, HNF1B, microdeletions
10小时前
待确认
RETRACTED: Prenatal diagnosis and molecular cytogenetic analyses of a rare 17q12 microdeletion and 17q11.2 microduplication family with normal phenotype
10小时前
求助中
Targeted resequencing of regulatory regions at schizophrenia risk loci: Role of rare functional variants at chromatin repressive states
10小时前
待确认
Towards a new point of view on the phenotype of patients with a 17q12 microdeletion syndrome
10小时前
待确认
Copy number variations in multicystic dysplastic kidney: update for prenatal diagnosis and genetic counseling
10小时前
待确认
Prenatal diagnosis, ultrasound findings, and pregnancy outcome of 17q12 deletion and duplication syndromes: a retrospective case series
10小时前
待确认
Prenatal diagnosis of familial transmission of 17q12 microduplication associated with no apparent phenotypic abnormality
10小时前
待确认
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