Molecular Diversity and Associated Phenotypic Spectrum of GermlineCBLMutations-Reference-Cited by-同舟云学术

Molecular Diversity and Associated Phenotypic Spectrum of GermlineCBLMutations

Published:2015-06-01 Issue:8 Volume:36 Page:787-796
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Martinelli Simone¹,Stellacci Emilia¹,Pannone Luca¹²,D'Agostino Daniela³,Consoli Federica²⁴,Lissewski Christina⁵,Silvano Marianna¹,Cencelli Giulia¹,Lepri Francesca⁶,Maitz Silvia⁷,Pauli Silke⁸,Rauch Anita⁹,Zampino Giuseppe¹⁰,Selicorni Angelo⁷,Melançon Serge³,Digilio Maria C.⁶,Gelb Bruce D.¹¹,De Luca Alessandro⁴,Dallapiccola Bruno⁶,Zenker Martin⁵,Tartaglia Marco¹

Affiliation:

1. Dipartimento di Ematologia; Oncologia e Medicina Molecolare; Istituto Superiore di Sanità; Rome Italy

2. Dipartimento di Medicina Sperimentale; Sapienza Università di Roma; Rome Italy

3. Department of Medical Genetics; McGill University Health Centre; Montreal Children's Hospital; Montreal Quebec Canada

4. Laboratorio Mendel; Istituto di Ricovero e Cura a Carattere Scientifico-Casa Sollievo della Sofferenza; Rome Italy

5. Institute of Human Genetics; University Hospital of Magdeburg; Otto-von-Guericke-University; Magdeburg Germany

6. Ospedale Pediatrico “Bambino Gesù”; Rome Italy

7. Dipartimento di Pediatria; Genetica Clinica; Ospedale S. Gerardo; Università di Milano-Bicocca; Monza Italy

8. Institute of Human Genetics; University of Göttingen; Göttingen Germany

9. Institute of Medical Genetics; University of Zurich; Schlieren-Zurich Switzerland

10. Istituto di Clinica Pediatrica; Università Cattolica del Sacro Cuore; Rome Italy

11. Mindich Child Health and Development Institute and Departments of Pediatrics and Genetics and Genomic Sciences; Icahn School of Medicine at Mount Sinai; New York

Funder

Fondazione Telethon

Associazione Italiana per la Ricerca sul Cancro

Ministero della Salute

Deutsche Forschungsgemeinschaft

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference73 articles.

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2. Cardio-facio-cutaneous syndrome with infantile spasms and delayed myelination;Aizaki;Brain Dev,2011