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(1 - 7 of 7)
Phenotype and Genotype in 52 Patients with Rubinstein-Taybi Syndrome Caused by EP300 Mutations
Fergelot, P.; Belzen, M. van; Gils, J. van; Afenjar, A.; Armour, C.M.; Arveiler, B.; ... ; Hennekam, R.C. 2016
Phenotype and Genotype in 52 Patients with Rubinstein-Taybi Syndrome Caused by EP300 Mutations
Article / Letter to editor
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Further delineation of the KAT6B molecular and phenotypic spectrum
Gannon, T.; Perveen, R.; Schlecht, H.; Ramsden, S.; Anderson, B.; Kerr, B.; ... ; DDD Study 2015
Further delineation of the KAT6B molecular and phenotypic spectrum
Article / Letter to editor
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Central 22q11.2 Deletions
Rump, P.; Leeuw, N. de; Essen, A.J. van; Verschuuren-Bemelmans, C.C.; Veenstra-Knol, H.E.; Swinkels, M.E.M.; ... ; Ravenswaaij-Arts, C.M. van 2014
Central 22q11.2 Deletions
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
metadata only
Parental insertional balanced translocations are an important cause of apparently de novo CNVs in patients with developmental anomalies
Nowakowska, B.A.; Leeuw, N. de; Ruivenkamp, C.A.L.; Sikkema-Raddatz, B.; Crolla, J.A.; Thoelen, R.; ... ; Vermeesch, J.R. 2012
Parental insertional balanced translocations are an important cause of apparently de novo CNVs in patients with developmental anomalies
Article / Letter to editor
metadata only
De Novo Mutations of the Gene Encoding the Histone Acetyltransferase KAT6B Cause Genitopatellar Syndrome
Simpson, M.A.; Deshpande, C.; Dafou, D.; Vissers, L.E.L.M.; Woollard, W.J.; Holder, S.E.; ... ; Trembath, R.C. 2012
De Novo Mutations of the Gene Encoding the Histone Acetyltransferase KAT6B Cause Genitopatellar Syndrome
Article / Letter to editor
metadata only