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Publications by Michel A.A.P. Willemsen
CLPB Mutations Cause 3-Methylglutaconic Aciduria, Progressive Brain Atrophy, Intellectual Disability, Congenital Neutropenia, Cataracts, Movement Disorder
American Journal of Human Genetics
Genetics
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Mutations in FYCO1 Cause Autosomal-Recessive Congenital Cataracts
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Mutations in NSUN2 Cause Autosomal- Recessive Intellectual Disability
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Mutations of CEP83 Cause Infantile Nephronophthisis and Intellectual Disability
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3-Methylglutaconic Aciduria—lessons From 50 Genes and 977 Patients
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Severe Intellectual Disability and Progressive Spastic Paraplegia
Mutations in RAB39B in Individuals With Intellectual Disability, Autism Spectrum Disorder, and Macrocephaly
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Non-Progressive Cerebellar Ataxia With Intellectual Disability
Germline De Novo Mutations in ATP1A1 Cause Renal Hypomagnesemia, Refractory Seizures, and Intellectual Disability
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Mutations in SNX14 Cause a Distinctive Autosomal-Recessive Cerebellar Ataxia and Intellectual Disability Syndrome
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