Jan-maarten Cobben
Amsterdam, NH 1100DD, Netherlands
Last Updated: 09/26/2026
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Found 11 publications
Using data from the 100,000 Genomes Project to resolve conflicting interpretations of a recurrent TUBB2A mutation.
Journal: Journal of medical genetics
Published: October 17, 2020
De novo and biallelic DEAF1 variants cause a phenotypic spectrum.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: November 19, 2018
Coenzyme Q10 deficiency due to a COQ4 gene defect causes childhood-onset spinocerebellar ataxia and stroke-like episodes.
Journal: Molecular genetics and metabolism reports
Published: June 20, 2018
CDC73-Related Disorders: Clinical Manifestations and Case Detection in Primary Hyperparathyroidism.
Journal: The Journal of clinical endocrinology and metabolism
Published: May 31, 2017
Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome.
Journal: American journal of human genetics
Published: November 01, 2016
When the right (Drug) should be left: Prenatal drug exposure and heterotaxy syndrome.
Journal: Birth defects research. Part A, Clinical and molecular teratology
Published: January 28, 2016
Biallelic Mutations in UNC80 Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability.
Journal: American journal of human genetics
Published: September 15, 2015
Clinical utility gene card for: Proximal spinal muscular atrophy (SMA) - update 2015.
Journal: European journal of human genetics : EJHG
Published: May 27, 2014
Opposite effects on facial morphology due to gene dosage sensitivity.
Journal: Human genetics
Published: March 17, 2014
Clinical and mutational characteristics of spinal muscular atrophy with respiratory distress type 1 in The Netherlands.
Journal: Neuromuscular disorders : NMD
Published: December 30, 2012
Clinical utility gene card for: proximal spinal muscular atrophy.
Journal: European journal of human genetics : EJHG
Published: April 19, 2012
Showing 1-11 of 11
Last Updated: 09/26/2026