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American Journal of Medical Genetics. Part A|May 21, 2013
6p21.3 microdeletion involving the SYNGAP1 gene in a patient with intellectual disability, seizures, and severe speech impairmentKarin Writzl, Alida C KnegtNeuropsychiatric Disease and Treatment|June 9, 2016
Absence epilepsy and the CHD2 gene: an adolescent male with moderate intellectual disability, short-lasting psychoses, and an interstitial deletion in 15q26.1-q26.2Willem Ma Verhoeven, Jos Im Egger, Alida C Knegt, et al.American Journal of Medical Genetics. Part A|March 13, 2012
Subtelomeric 6.7 Mb trisomy 10p and 5.6 Mb monosomy 21q detected by FISH and array-CGH in three related patientsGabriella P Szabó, Alida C Knegt, Anikó Ujfalusi, et al.European Journal of Obstetrics, Gynecology, and Reproductive Biology|February 23, 2002
Trisomy 13 or 18 (mosaicism) in first trimester cytotrophoblast cells: false-positive results in 11 out of 51 casesG Heleen Schuring-Blom, Kees Boer, Alida C Knegt, et al.American Journal of Medical Genetics. Part A|February 26, 2013
De novo mutations of the gene encoding the histone acetyltransferase KAT6B in two patients with Say-Barber/Biesecker/Young-Simpson syndromeKatalin Szakszon, Carmelo Salpietro, Naseebullah Kakar, et al.American Journal of Medical Genetics. Part A|August 17, 2013
Achondroplasia with multiple-suture craniosynostosis: a report of a new case of this rare associationBeáta Bessenyei, Andrea Nagy, Erzsébet Balogh, et al.Molecular Cytogenetics|January 31, 2012
Prenatal diagnosis of a trisomy 7/trisomy 13 mosaicismKarin Huijsdens-van Amsterdam, Daniela Qcm Barge-Schaapveld, Inge B Mathijssen, et al.American Journal of Medical Genetics. Part A|February 24, 2011
Blepharophimosis mental retardation syndrome Say-Barber/Biesecker/Young-Simpson type - new findings with neuroimagingKatalin Szakszon, Ervin Berényi, András Jakab, et al.Prenatal Diagnosis|February 11, 2020
Prenatal sonographic features can accurately determine parental origin in triploid pregnanciesMalou A Lugthart, Judith Horenblas, Emily C Kleinrouweler, et al.Orvosi Hetilap|February 26, 2014
[Deletion 15q26 syndrome]Katalin Szakszon, Anikó Ujfalusi, Erzsébet Balogh, et al.Pageof 3