Systematic Analysis ofCCNOVariants in a Defined Population: Implications for Clinical Phenotype and Differential Diagnosis-Reference-Cited by-同舟云学术

Systematic Analysis ofCCNOVariants in a Defined Population: Implications for Clinical Phenotype and Differential Diagnosis

Published:2016-02-04 Issue:4 Volume:37 Page:396-405
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Amirav Israel¹,Wallmeier Julia²,Loges Niki T.²,Menchen Tabea²,Pennekamp Petra²,Mussaffi Huda³,Abitbul Revital¹,Avital Avraham⁴,Bentur Lea⁵,Dougherty Gerard W.²,Nael Elias⁶,Lavie Moran⁷,Olbrich Heike²,Werner Claudius²,Kintner Chris⁸,Omran Heymut²,

Affiliation:

1. Ziv Medical Center, Faculty of Medicine, Bar IIan University, Safed 13100, Israel

2. Department of General Pediatrics; University Children's Hospital Muenster; Muenster 48149 Germany

3. Pulmonary Institute, Schneider Children's Medical Center of Israel and Sackler Faculty of Medicine; Tel Aviv University; Tel Aviv Israel

4. Institute of Pulmonology; Hadassah-Hebrew University Medical Centers; Jerusalem Israel

5. Rambam Medical Center; Haifa Israel

6. Saint Vincent De-Paul Hospital; Nazareth Israel

7. Edmond & Lili Safra Children's Hospital; Sheba Medical Center; Tel Hashomer Israel

8. Molecular Neurobiology Laboratory; Salk Institute for Biological Studies; San Diego California 92186

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.22957/fullpdf

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