Work

Loss-of-Function Mutations in Euchromatin Histone Methyl Transferase 1 (EHMT1) Cause the 9q34 Subtelomeric Deletion Syndrome

Year: 2006

Type: article

Study design: Observational Study

Source: The American Journal of Human Genetics

DOI: 10.1086/505693

Authors: Tjitske Kleefstra, Han G. Brunner, Jeanne Amiel, Astrid R. Oudakker, Willy M. Nillesen, Alex Magee, David Geneviève, Valérie Cormier-Daire, Hilde van Esch, Jean-Pierre Fryns, Ben C.J. Hamel, Erik A. Sistermans, Bert B.A. de Vries, Hans van Bokhoven

Institutions: Radboud University Medical Center, Hôpital Necker-Enfants Malades, Belfast City Hospital, Universitair Ziekenhuis Leuven

Language: English

Topic: Genomic variations and chromosomal abnormalities

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: bronze

OpenAlex ID: W1968916422

FWCI: 7.13

Cites: 30

Cited by: 416

Related to: 10