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Koen Devriendt

Showing results (101-110 of 183) with videos related to

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European Journal of Human Genetics : EJHG|May 2, 2013
Platelet defects in congenital variant of Rett syndrome patients with FOXG1 mutations or reduced expression due to a position effect at 14q12Christophe Goubau, Koen Devriendt, Nathalie Van der Aa, et al.
Prenatal Diagnosis|February 2, 2018
Predicting fetoplacental chromosomal mosaicism during non-invasive prenatal testingNathalie Brison, Maria Neofytou, Luc Dehaspe, et al.
The New England Journal of Medicine|July 10, 2024
Rare Autosomal Trisomies and Adverse Perinatal OutcomesLore Lannoo, Kris Van Den Bogaert, Nathalie Brison, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 15, 2016
Expanding the clinical and mutational spectrum of the Ehlers-Danlos syndrome, dermatosparaxis typeTim Van Damme, Alain Colige, Delfien Syx, et al.
European Journal of Human Genetics : EJHG|July 20, 2007
Guidelines for molecular karyotyping in constitutional genetic diagnosisJoris Robert Vermeesch, Heike Fiegler, Nicole de Leeuw, et al.
Genes, Chromosomes & Cancer|December 3, 2009
Tumor spectrum in children with Noonan syndrome and SOS1 or RAF1 mutationsEllen Denayer, Koen Devriendt, Thomy de Ravel, et al.
American Journal of Medical Genetics. Part A|August 6, 2013
The phenotypic spectrum of duplication 5q35.2-q35.3 encompassing NSD1: is it really a reversed Sotos syndrome?Nicola Dikow, Bianca Maas, Harald Gaspar, et al.
American Journal of Human Genetics|January 9, 2008
Autosomal-dominant microtia linked to five tandem copies of a copy-number-variable region at chromosome 4p16Irina Balikova, Kevin Martens, Cindy Melotte, et al.
Clinical Genetics|January 19, 2025
Unexpected High Prevalence of Focal Facial Dermal Dysplasia (FFDD) Type IV Is Linked to a Founder Effect in the Belgian PopulationAude Beyens, Stefanie Van De Voorde, Marta Guerreiro Santano Ramos Da Silva, et al.
The Journal of Clinical Endocrinology and Metabolism|April 9, 2010
Improved molecular diagnostics of idiopathic short stature and allied disorders: quantitative polymerase chain reaction-based copy number profiling of SHOX and pseudoautosomal region 1Barbara D'haene, Jan Hellemans, Margarita Craen, et al.
Pageof 19

Showing results (101-110 of 183) with videos related to

Sort By:
Pageof 19
European Journal of Human Genetics : EJHG|May 2, 2013
Platelet defects in congenital variant of Rett syndrome patients with FOXG1 mutations or reduced expression due to a position effect at 14q12Christophe Goubau, Koen Devriendt, Nathalie Van der Aa, et al.
Prenatal Diagnosis|February 2, 2018
Predicting fetoplacental chromosomal mosaicism during non-invasive prenatal testingNathalie Brison, Maria Neofytou, Luc Dehaspe, et al.
The New England Journal of Medicine|July 10, 2024
Rare Autosomal Trisomies and Adverse Perinatal OutcomesLore Lannoo, Kris Van Den Bogaert, Nathalie Brison, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 15, 2016
Expanding the clinical and mutational spectrum of the Ehlers-Danlos syndrome, dermatosparaxis typeTim Van Damme, Alain Colige, Delfien Syx, et al.
European Journal of Human Genetics : EJHG|July 20, 2007
Guidelines for molecular karyotyping in constitutional genetic diagnosisJoris Robert Vermeesch, Heike Fiegler, Nicole de Leeuw, et al.
Genes, Chromosomes & Cancer|December 3, 2009
Tumor spectrum in children with Noonan syndrome and SOS1 or RAF1 mutationsEllen Denayer, Koen Devriendt, Thomy de Ravel, et al.
American Journal of Medical Genetics. Part A|August 6, 2013
The phenotypic spectrum of duplication 5q35.2-q35.3 encompassing NSD1: is it really a reversed Sotos syndrome?Nicola Dikow, Bianca Maas, Harald Gaspar, et al.
American Journal of Human Genetics|January 9, 2008
Autosomal-dominant microtia linked to five tandem copies of a copy-number-variable region at chromosome 4p16Irina Balikova, Kevin Martens, Cindy Melotte, et al.
Clinical Genetics|January 19, 2025
Unexpected High Prevalence of Focal Facial Dermal Dysplasia (FFDD) Type IV Is Linked to a Founder Effect in the Belgian PopulationAude Beyens, Stefanie Van De Voorde, Marta Guerreiro Santano Ramos Da Silva, et al.
The Journal of Clinical Endocrinology and Metabolism|April 9, 2010
Improved molecular diagnostics of idiopathic short stature and allied disorders: quantitative polymerase chain reaction-based copy number profiling of SHOX and pseudoautosomal region 1Barbara D'haene, Jan Hellemans, Margarita Craen, et al.
Pageof 19