Work

Genomic screening in rare disorders: New mutations and phenotypes, highlighting ALG14 as a novel cause of severe intellectual disability

Year: 2018

Type: article

Study design: Observational Study

Source: Clinical Genetics

DOI: 10.1111/cge.13448

Authors: Malin Kvarnung, Fulya Taylan, Daniel Nilsson, Britt‐Marie Anderlid, Helena Malmgren, Kristina Lagerstedt‐Robinson, Eva Holmberg, Magnus Burstedt, Magnus Nordenskjöld, Ann Nordgren, Elisabeth S. Lundberg

Institutions: Karolinska University Hospital, Karolinska Institutet, Science for Life Laboratory, Umeå University

Language: English

Topic: Genomics and Rare Diseases

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

Funders: Knut och Alice Wallenbergs Stiftelse, Stockholms Läns Landsting, Medicinska Forskningsrådet, Science for Life Laboratory

OpenAlex ID: W2891583333

FWCI: 1.835

Cites: 42

Cited by: 35

Related to: 10