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(1 - 3 of 3)
De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder
Reijnders, M.R.F.; Miller, K.A.; Alvi, M.; Goos, J.A.C.; Lees, M.M.; Burca, A. de; ... ; Deciphering Dev Disorders Study 2018
De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder
Article / Letter to editor
open access
Malan syndrome: Sotos-like overgrowth with de novo NFIX sequence variants and deletions in six new patients and a review of the literature
Klaassens, M.; Morrogh, D.; Rosser, E.M.; Jaffer, F.; Vreeburg, M.; Bok, L.A.; ... ; Scott, R.H. 2015
Malan syndrome: Sotos-like overgrowth with de novo NFIX sequence variants and deletions in six new patients and a review of the literature
Article / Letter to editor
metadata only
Ehlers-Danlos arthrochalasia type (VIIA-B) - expanding the phenotype: from prenatal life through adulthood
Klaassens, M.; Reinstein, E.; Hilhorst-Hofstee, Y.; Schrander, J.J.P.; Malfait, F.; Staal, H.; ... ; Schrander-Stumpel, C.T.R.M. 2012
Ehlers-Danlos arthrochalasia type (VIIA-B) - expanding the phenotype: from prenatal life through adulthood
Article / Letter to editor
metadata only