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Journal of Inherited Metabolic Disease|March 5, 2015
Whole exome sequencing of suspected mitochondrial patients in clinical practiceSaskia B Wortmann, David A Koolen, Jan A Smeitink, et al.
Nederlands Tijdschrift Voor Geneeskunde|May 7, 2015
[Multiple endocrine neoplasia type 2B]Karijn J Pijnenburg-Kleizen, Hanneke M van Santen, David A Koolen, et al.
European Journal of Human Genetics : EJHG|December 18, 2022
Expanding the speech and language phenotype in Koolen-de Vries syndrome: late onset and periodic stuttering a novel featureMiya St John, Olivia van Reyk, David A Koolen, et al.
Epilepsia|April 26, 2017
The epileptology of Koolen-de Vries syndrome: Electro-clinico-radiologic findings in 31 patientsKenneth A Myers, Simone A Mandelstam, Georgia Ramantani, et al.
Clinical Dysmorphology|September 6, 2007
Tall stature and minor facial dysmorphisms in a patient with a 17.5 Mb interstitial deletion of chromosome 13 (q14.3q21.33): clinical report and reviewBregje W M van Bon, David A Koolen, Ilse Feenstra, et al.
Human Genetics|May 31, 2012
Evaluation of PRDM9 variation as a risk factor for recurrent genomic disorders and chromosomal non-disjunctionChristelle Borel, Fanny Cheung, Helen Stewart, et al.
European Journal of Human Genetics : EJHG|December 12, 2017
Early speech development in Koolen de Vries syndrome limited by oral praxis and hypotoniaAngela T Morgan, Leenke van Haaften, Karen van Hulst, et al.
Clinical Dysmorphology|June 9, 2006
A novel 2.3 Mb microduplication of 12q24.21q24.23 detected by genome-wide tiling-path resolution array comparative genomic hybridization in a girl with syndromic mental retardationMariken Ruiter, David A Koolen, Rolph Pfundt, et al.
Parkinsonism & Related Disorders|December 26, 2013
Beta-propeller protein-associated neurodegeneration (BPAN), a rare form of NBIA: novel mutations and neuropsychiatric phenotype in three adult patientsWillem M A Verhoeven, Jos I M Egger, David A Koolen, et al.
BMC Psychiatry|August 25, 2022
The impact of lockdown on young people with genetic neurodevelopmental disabilities: a study with the international participatory database GenIDARomain Coutelle, Morgane Boedec, Karlijn Vermeulen, et al.
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