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Koenraad Devriendt

Showing results (141-150 of 190) with videos related to

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European Journal of Human Genetics : EJHG|April 7, 2023
Population screening for 15q11-q13 duplications: corroboration of the difference in impact between maternally and paternally inherited allelesIlse Parijs, Nathalie Brison, Leen Vancoillie, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 2, 2013
A prospective study of the clinical utility of prenatal chromosomal microarray analysis in fetuses with ultrasound abnormalities and an exploration of a framework for reporting unclassified variants and risk factorsPaul Daniel Brady, Barbara Delle Chiaie, Gabrielle Christenhusz, et al.
American Journal of Human Genetics|November 20, 2012
Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndromeJanneke H M Schuurs-Hoeijmakers, Edwin C Oh, Lisenka E L M Vissers, et al.
Prenatal Diagnosis|February 6, 2023
A cross-country comparison of pregnant women's decision-making and perspectives when opting for non-invasive prenatal testing in the Netherlands and BelgiumLore Lannoo, Karuna R M van der Meij, Mireille N Bekker, et al.
Eclinicalmedicine|May 26, 2021
Comprehensive genome-wide analysis of routine non-invasive test data allows cancer prediction: A single-center retrospective analysis of over 85,000 pregnanciesLiesbeth Lenaerts, Nathalie Brison, Charlotte Maggen, et al.
European Journal of Human Genetics : EJHG|April 20, 2017
Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new casesFrancesca Novara, Berardo Rinaldi, Sanjay M Sisodiya, et al.
European Journal of Medical Genetics|August 14, 2016
Copy number variation analysis in adults with catatonia confirms haploinsufficiency of SHANK3 as a predisposing factorJeroen Breckpot, Marieke Vercruyssen, Eddy Weyts, et al.
Journal of Medical Genetics|December 8, 2011
Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashionEva Klopocki, Silke Lohan, Sandra C Doelken, et al.
Clinical Genetics|November 10, 2020
A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet-Biedl syndromeClarisse Delvallée, Samuel Nicaise, Manuela Antin, et al.
Prenatal Diagnosis|May 22, 2020
Prenatally detected copy number variants in a national cohort: A postnatal follow-up studyJoke Muys, Yves Jacquemyn, Bettina Blaumeiser, et al.
Pageof 19

Showing results (141-150 of 190) with videos related to

Sort By:
Pageof 19
European Journal of Human Genetics : EJHG|April 7, 2023
Population screening for 15q11-q13 duplications: corroboration of the difference in impact between maternally and paternally inherited allelesIlse Parijs, Nathalie Brison, Leen Vancoillie, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 2, 2013
A prospective study of the clinical utility of prenatal chromosomal microarray analysis in fetuses with ultrasound abnormalities and an exploration of a framework for reporting unclassified variants and risk factorsPaul Daniel Brady, Barbara Delle Chiaie, Gabrielle Christenhusz, et al.
American Journal of Human Genetics|November 20, 2012
Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndromeJanneke H M Schuurs-Hoeijmakers, Edwin C Oh, Lisenka E L M Vissers, et al.
Prenatal Diagnosis|February 6, 2023
A cross-country comparison of pregnant women's decision-making and perspectives when opting for non-invasive prenatal testing in the Netherlands and BelgiumLore Lannoo, Karuna R M van der Meij, Mireille N Bekker, et al.
Eclinicalmedicine|May 26, 2021
Comprehensive genome-wide analysis of routine non-invasive test data allows cancer prediction: A single-center retrospective analysis of over 85,000 pregnanciesLiesbeth Lenaerts, Nathalie Brison, Charlotte Maggen, et al.
European Journal of Human Genetics : EJHG|April 20, 2017
Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new casesFrancesca Novara, Berardo Rinaldi, Sanjay M Sisodiya, et al.
European Journal of Medical Genetics|August 14, 2016
Copy number variation analysis in adults with catatonia confirms haploinsufficiency of SHANK3 as a predisposing factorJeroen Breckpot, Marieke Vercruyssen, Eddy Weyts, et al.
Journal of Medical Genetics|December 8, 2011
Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashionEva Klopocki, Silke Lohan, Sandra C Doelken, et al.
Clinical Genetics|November 10, 2020
A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet-Biedl syndromeClarisse Delvallée, Samuel Nicaise, Manuela Antin, et al.
Prenatal Diagnosis|May 22, 2020
Prenatally detected copy number variants in a national cohort: A postnatal follow-up studyJoke Muys, Yves Jacquemyn, Bettina Blaumeiser, et al.
Pageof 19