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Guidelines for molecular karyotyping in constitutional genetic diagnosis

2007183 citationsReviewbronze Open Access

Authors

Joris Vermeesch · Center for Human Genetics

Heike Fiegler · Wellcome Sanger Institute

Nicole de Leeuw · Radboud University Nijmegen

Károly Szuhai · Leiden University Medical Center

Jacqueline Schoumans · Karolinska Institutet

Roberto Ciccone · University of Pavia

Frank Speleman ·

Topics & Keywords

Genomic variations and chromosomal abnormalities Prenatal Screening and Diagnostics Genomics and Rare Diseases

Publication Details

Published in: European Journal of Human Genetics

Volume 15, Issue 11, pp. 1105-1114

DOI: 10.1038/sj.ejhg.5201896

Field-Weighted Citation Impact: 7.08

Guidelines for molecular karyotyping in constitutional genetic diagnosis | Researchclopedia

Ghent University Hospital

Anita Rauch · Friedrich-Alexander-Universität Erlangen-Nürnberg

Jill Clayton‐Smith · St Mary's Hospital

Conny van Ravenswaaij · University Medical Center Groningen

Damien Sanlaville · Hospices Civils de Lyon

Philippos C. Patsalis · Cyprus Institute of Neurology and Genetics

Helen V. Firth · Addenbrooke's Hospital

Koenraad Devriendt

Orsetta Zuffardi · University of Pavia