Literature DB >> 28543167

A novel homozygous splice-site mutation in RYR1 causes fetal hydrops and affects skeletal and smooth muscle development.

Nicole Meier1,2,3, Elisabeth Bruder3,4, Isabel Filges1,2,3.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2017        PMID： 28543167     DOI： 10.1002/pd.5073

Source DB:  PubMed          Journal:  Prenat Diagn        ISSN： 0197-3851            Impact factor:   3.050


× No keyword cloud information.
  2 in total

1.  The utility of exome sequencing for fetal pleural effusions.

Authors:  Angie C Jelin; Nara Sobreira; Elizabeth Wohler; Benjamin Solomon; Teresa Sparks; Katelynn G Sagaser; Katherine R Forster; Jena Miller; P Dane Witmer; Ada Hamosh; David Valle; Karin Blakemore
Journal:  Prenat Diagn       Date:  2020-02-17       Impact factor: 3.050

2.  Exome sequencing of fetal anomaly syndromes: novel phenotype-genotype discoveries.

Authors:  Nicole Meier; Elisabeth Bruder; Olav Lapaire; Irene Hoesli; Anjeung Kang; Jürgen Hench; Sylvia Hoeller; Julie De Geyter; Peter Miny; Karl Heinimann; Rabih Chaoui; Sevgi Tercanli; Isabel Filges
Journal:  Eur J Hum Genet       Date:  2019-01-24       Impact factor: 4.246
  2 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.