Marc D'hooghe
Brugge, VLG 8000, Belgium
Last Updated: 09/26/2026
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Found 8 publications
Autosomal dominant in cis D4Z4 repeat array duplication alleles in facioscapulohumeral dystrophy.
Journal: Brain : a journal of neurology
Published: May 17, 2023
A recurrent de novo mutation in TMEM106B causes hypomyelinating leukodystrophy.
Journal: Brain : a journal of neurology
Published: August 22, 2017
Tubulinopathies continued: refining the phenotypic spectrum associated with variants in TUBG1.
Journal: European journal of human genetics : EJHG
Published: August 15, 2017
Variant ataxia telangiectasia: clinical and molecular findings and evaluation of radiosensitive phenotypes in a patient and relatives.
Journal: Neuromolecular medicine
Published: February 20, 2013
Characteristics of early MRI in children and adolescents with vanishing white matter.
Journal: Neuropediatrics
Published: March 21, 2012
Methylation defect in imprinted genes detected in patients with an Albright's hereditary osteodystrophy like phenotype and platelet Gs hypofunction.
Journal: PloS one
Published: November 25, 2011
X-linked sideroblastic anemia and ataxia: a new family with identification of a fourth ABCB7 gene mutation.
Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
Published: October 25, 2011
Showing 1-8 of 8
Last Updated: 09/26/2026