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Kathelijn Keymolen

Showing results (51-60 of 61) with videos related to

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European Journal of Human Genetics : EJHG|August 22, 2008
The mutation spectrum in RECQL4 diseasesH Annika Siitonen, Jenni Sotkasiira, Martine Biervliet, et al.
Brain : a Journal of Neurology|July 21, 2016
Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological declineKatia Hardies, Yiying Cai, Claude Jardel, et al.
Human Mutation|November 20, 2010
Legius syndrome in fourteen familiesEllen Denayer, Magdalena Chmara, Hilde Brems, et al.
Journal of Medical Genetics|June 24, 2020
Defining the phenotypical spectrum associated with variants in <i>TUBB2A</i>Stefanie Brock, Tim Vanderhasselt, Sietske Vermaning, 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.
Journal of Medical Genetics|April 8, 2022
Overlapping cortical malformations in patients with pathogenic variants in <i>GRIN1</i> and <i>GRIN2B</i>Stefanie Brock, Annie Laquerriere, Florent Marguet, et al.
Prenatal Diagnosis|October 19, 2018
The Belgian MicroArray Prenatal (BEMAPRE) database: A systematic nationwide repository of fetal genomic aberrationsJoke Muys, Bettina Blaumeiser, Yves Jacquemyn, et al.
European Journal of Medical Genetics|February 19, 2014
Implementation of genomic arrays in prenatal diagnosis: the Belgian approach to meet the challengesOlivier Vanakker, Catheline Vilain, Katrien Janssens, et al.
Molecular Genetics & Genomic Medicine|August 17, 2021
Phenotypes and genotypes in non-consanguineous and consanguineous primary microcephaly: High incidence of epilepsySarah Duerinckx, Julie Désir, Camille Perazzolo, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 19, 2019
A clinical scoring system for congenital contractural arachnodactylyIlse Meerschaut, Shana De Coninck, Wouter Steyaert, et al.
Pageof 7

Showing results (51-60 of 61) with videos related to

Sort By:
Pageof 7
European Journal of Human Genetics : EJHG|August 22, 2008
The mutation spectrum in RECQL4 diseasesH Annika Siitonen, Jenni Sotkasiira, Martine Biervliet, et al.
Brain : a Journal of Neurology|July 21, 2016
Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological declineKatia Hardies, Yiying Cai, Claude Jardel, et al.
Human Mutation|November 20, 2010
Legius syndrome in fourteen familiesEllen Denayer, Magdalena Chmara, Hilde Brems, et al.
Journal of Medical Genetics|June 24, 2020
Defining the phenotypical spectrum associated with variants in <i>TUBB2A</i>Stefanie Brock, Tim Vanderhasselt, Sietske Vermaning, 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.
Journal of Medical Genetics|April 8, 2022
Overlapping cortical malformations in patients with pathogenic variants in <i>GRIN1</i> and <i>GRIN2B</i>Stefanie Brock, Annie Laquerriere, Florent Marguet, et al.
Prenatal Diagnosis|October 19, 2018
The Belgian MicroArray Prenatal (BEMAPRE) database: A systematic nationwide repository of fetal genomic aberrationsJoke Muys, Bettina Blaumeiser, Yves Jacquemyn, et al.
European Journal of Medical Genetics|February 19, 2014
Implementation of genomic arrays in prenatal diagnosis: the Belgian approach to meet the challengesOlivier Vanakker, Catheline Vilain, Katrien Janssens, et al.
Molecular Genetics & Genomic Medicine|August 17, 2021
Phenotypes and genotypes in non-consanguineous and consanguineous primary microcephaly: High incidence of epilepsySarah Duerinckx, Julie Désir, Camille Perazzolo, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 19, 2019
A clinical scoring system for congenital contractural arachnodactylyIlse Meerschaut, Shana De Coninck, Wouter Steyaert, et al.
Pageof 7