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Koenraad Devriendt

Showing results (61-70 of 190) with videos related to

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Human Mutation|November 25, 2016
Detecting AGG Interruptions in Male and Female FMR1 Premutation Carriers by Single-Molecule SequencingSimon Ardui, Valerie Race, Alena Zablotskaya, et al.
European Journal of Human Genetics : EJHG|July 17, 2014
Expanding the phenotypic spectrum of PORCN variants in two males with syndromic microphthalmiaPaul D Brady, Hilde Van Esch, Nathalie Fieremans, et al.
European Journal of Medical Genetics|March 19, 2015
Mirror-image gastroschisis in monochorionic female twinsToni Kasole Lubala, Sébastien Mbuyi-Musanzayi, Nina Lubala, et al.
Journal of Clinical Laboratory Analysis|April 11, 2022
DNA testing for sickle cell anemia in Africa: Implementation choices for the Democratic Republic of CongoMamy Ngole, Valerie Race, Gloire Mbayabo, et al.
Orphanet Journal of Rare Diseases|December 15, 2010
Granulomatous skin lesions complicating Varicella infection in a patient with Rothmund-Thomson syndrome and immune deficiency: case reportLien De Somer, Carine Wouters, Marie-Anne Morren, et al.
European Journal of Medical Genetics|June 28, 2014
Homozygous loss-of-function mutation in ALMS1 causes the lethal disorder mitogenic cardiomyopathy in two siblingsJacoba J Louw, Anniek Corveleyn, Yaojuan Jia, et al.
European Journal of Medical Genetics|April 28, 2024
How many phenotypes for the FBXO11 related disease? Report on a new patient with a tricho-rhino-phalangeal like phenotypeAndre Mégarbané, Cybel Mehawej, Daniel Mahfoud, et al.
European Journal of Human Genetics : EJHG|March 14, 2003
No evidence for a parental inversion polymorphism predisposing to rearrangements at 22q11.2 in the DiGeorge/Velocardiofacial syndromeGabriel Stefan Gebhardt, Koenraad Devriendt, Reinhilde Thoelen, et al.
Molecular Autism|October 27, 2015
Platelet studies in autism spectrum disorder patients and first-degree relativesNora Bijl, Chantal Thys, Christine Wittevrongel, et al.
American Journal of Medical Genetics. Part A|February 10, 2012
Congenital heart defects in a novel recurrent 22q11.2 deletion harboring the genes CRKL and MAPK1Jeroen Breckpot, Bernard Thienpont, Marijke Bauters, et al.
Pageof 19

Showing results (61-70 of 190) with videos related to

Sort By:
Pageof 19
Human Mutation|November 25, 2016
Detecting AGG Interruptions in Male and Female FMR1 Premutation Carriers by Single-Molecule SequencingSimon Ardui, Valerie Race, Alena Zablotskaya, et al.
European Journal of Human Genetics : EJHG|July 17, 2014
Expanding the phenotypic spectrum of PORCN variants in two males with syndromic microphthalmiaPaul D Brady, Hilde Van Esch, Nathalie Fieremans, et al.
European Journal of Medical Genetics|March 19, 2015
Mirror-image gastroschisis in monochorionic female twinsToni Kasole Lubala, Sébastien Mbuyi-Musanzayi, Nina Lubala, et al.
Journal of Clinical Laboratory Analysis|April 11, 2022
DNA testing for sickle cell anemia in Africa: Implementation choices for the Democratic Republic of CongoMamy Ngole, Valerie Race, Gloire Mbayabo, et al.
Orphanet Journal of Rare Diseases|December 15, 2010
Granulomatous skin lesions complicating Varicella infection in a patient with Rothmund-Thomson syndrome and immune deficiency: case reportLien De Somer, Carine Wouters, Marie-Anne Morren, et al.
European Journal of Medical Genetics|June 28, 2014
Homozygous loss-of-function mutation in ALMS1 causes the lethal disorder mitogenic cardiomyopathy in two siblingsJacoba J Louw, Anniek Corveleyn, Yaojuan Jia, et al.
European Journal of Medical Genetics|April 28, 2024
How many phenotypes for the FBXO11 related disease? Report on a new patient with a tricho-rhino-phalangeal like phenotypeAndre Mégarbané, Cybel Mehawej, Daniel Mahfoud, et al.
European Journal of Human Genetics : EJHG|March 14, 2003
No evidence for a parental inversion polymorphism predisposing to rearrangements at 22q11.2 in the DiGeorge/Velocardiofacial syndromeGabriel Stefan Gebhardt, Koenraad Devriendt, Reinhilde Thoelen, et al.
Molecular Autism|October 27, 2015
Platelet studies in autism spectrum disorder patients and first-degree relativesNora Bijl, Chantal Thys, Christine Wittevrongel, et al.
American Journal of Medical Genetics. Part A|February 10, 2012
Congenital heart defects in a novel recurrent 22q11.2 deletion harboring the genes CRKL and MAPK1Jeroen Breckpot, Bernard Thienpont, Marijke Bauters, et al.
Pageof 19