Results 171 to 180 of about 140,126 (358)
Clinical Genetics, EarlyView.To assess the relevance of exome sequencing as a first‐tier diagnostic tool, three aspects were investigated: detection of copy number variants (CNVs) from exomes as compared to chromosomal microarray, clinically‐relevant CNVs across all sizes, and additional diagnostic utilities (uniparental disomy and triploidy).
Rivka Birnbaum +13 more
wiley +1 more source
Clinical Genetics, EarlyView.This review primarily summarizes the genetic defects in Müllerian anomalies, the tools used to validate these genetic defects, and the future clinical significance of identifying the precise genetic etiology of Müllerian anomalies. ABSTRACT Müllerian anomalies are a collection of heterogeneous anatomical disorders of the female genital tract that ...
Jingfang Li +5 more
wiley +1 more source
Prevalence of <i>Atresia ani</i> in New Born Calves and Their Surgical Management
, 2014 MB Hossain +3 more
openalex +2 more sources
Esophageal atresia in newborns: a wide spectrum from the isolated forms to a full VACTERL phenotype? [PDF]
, 2013 Simona La Placa +9 more
openalex +1 more source
Clinical Otolaryngology, EarlyView.ABSTRACT Objectives This study evaluates the safety and efficacy of the Bonebridge BCI 601 and 602 bone conduction implants in our largest cohort to date of 355 patients. The patients had a wide age range and exhibited conductive, mixed, or single‐sided deafness (SSD). Design All patients underwent Bonebridge implantation.
Piotr Henryk Skarzynski +3 more
wiley +1 more source
Medium-chain triglyceride supplementation in infants with biliary atresia: a review of the evidence for impacts on fat absorption, growth, nutritional status and clinical outcomes. [PDF]
Proc Nutr SocMancell S, Dhawan A, Ayis S, Whelan K.
europepmc +1 more source
Rare Association of Absent Pulmonary Valve Syndrome with Double Outlet Right Ventricle and Hypoplastic Left Heart Complex [PDF]
, 2020 Arya, Bhawna +4 more
core +2 more sources
Developmental Medicine &Child Neurology, EarlyView.Plain language summary: https://onlinelibrary.wiley.com/doi/10.1111/dmcn.70022 Abstract Aim To examine the accuracy of prenatal counselling at a multidisciplinary fetal neurology clinic (FNC) that led to termination of pregnancy (TOP), to improve the quality of future consultations. Method This retrospective diagnostic cohort study compared the imaging
Avi Shariv +12 more
wiley +1 more source
Successful treatment of corrosive esophageal atresia in a child using combined antegrade-retrograde dilation: a case report. [PDF]
Front PediatrWu H +5 more
europepmc +1 more source
Stama-related variceal bleeding: An under-recognized complication of biliary atresia [PDF]
, 1988 Rowe, MI +3 more
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