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(1 - 9 of 9)
De Novo Mutations Affecting the Catalytic C alpha Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders
Reynhout, S.; Jansen, S.; Haesen, D.; Belle, S. van; Munnik, S.A. de; Bongers, E.M.H.F.; ... ; Vissers, L.E.L.M. 2019
De Novo Mutations Affecting the Catalytic C alpha Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders
Article / Letter to editor
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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
Two novel cases expanding the phenotype of SETD2-related overgrowth syndrome
Rij, M.C. van; Hollink, I.H.I.M.; Terhal, P.A.; Kant, S.G.; Ruivenkamp, C.; Haeringen, A. van; ... ; Belzen, M.J. van 2018
Two novel cases expanding the phenotype of SETD2-related overgrowth syndrome
Article / Letter to editor
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Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein-Taybi syndrome
Menke, L.A.; Gardeitchik, T.; Hammond, P.; Heimdal, K.R.; Houge, G.; Hufnagel, S.B.; ... ; DDD Study 2018
Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein-Taybi syndrome
Article / Letter to editor
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De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability
Kury, S.; Woerden, G.M. van; Besnard, T.; Onori, M.P.; Latypova, X.; Towne, M.C.; ... ; Deciphering Dev Dis Study 2017
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability
Article / Letter to editor
open access
A Study of the Clinical and Radiological Features in a Cohort of 93 Patients with a COL2A1 Mutation Causing Spondyloepiphyseal Dysplasia Congenita or a Related Phenotype
Terhal, P.A.; Nievelstein, R.J.A.J.; Verver, E.J.J.; Topsakal, V.; Dommelen, P. van; Hoornaert, K.; ... ; Mortier, G.R. 2015
A Study of the Clinical and Radiological Features in a Cohort of 93 Patients with a COL2A1 Mutation Causing Spondyloepiphyseal Dysplasia Congenita or a Related Phenotype
Article / Letter to editor
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Meier-Gorlin syndrome: Growth and secondary sexual development of a microcephalic primordial dwarfism disorder
Munnik, S.A. de; Otten, B.J.; Schoots, J.; Bicknell, L.S.; Aftimos, S.; Al-Aama, J.Y.; ... ; Bongers, E.M.H.F. 2012
Meier-Gorlin syndrome: Growth and secondary sexual development of a microcephalic primordial dwarfism disorder
Article / Letter to editor
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Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis
Munnik, S.A. de; Bicknell, L.S.; Aftimos, S.; Al-Aama, J.Y.; Bever, Y. van; Bober, M.B.; ... ; Bongers, E.M.H.F. 2012
Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis
Article / Letter to editor
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RARE STRUCTURAL GENOMIC VARIANTS IN NONSYNDROMIC EPILEPTIC ENCEPHALOPATHIES WITH AND WITHOUT MRI- DETECTABLE STRUCTURAL BRAIN ABNORMALITIES
Helbig, I.; Swinkels, M.E.M.; Moller, R.S.; Aten, E.; Brilstra, E.H.; Ostertag, P.; ... ; Poot, M. 2010
RARE STRUCTURAL GENOMIC VARIANTS IN NONSYNDROMIC EPILEPTIC ENCEPHALOPATHIES WITH AND WITHOUT MRI- DETECTABLE STRUCTURAL BRAIN ABNORMALITIES
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