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Showing results (21-30 of 31) with videos related to

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Human Molecular Genetics|June 23, 2018
Biallelic B3GALT6 mutations cause spondylodysplastic Ehlers-Danlos syndromeTim Van Damme, Xiaomeng Pang, Brecht Guillemyn, et al.
Open Research Europe|April 11, 2025
Genomic findings with familial implications: agenda setting in light of mainstreamingAmicia Phillips, Eva Van Steijvoort, Maria Siermann, 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.
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.
Obstetrics and Gynecology|May 6, 2021
Performance and Diagnostic Value of Genome-Wide Noninvasive Prenatal Testing in Multiple GestationsMargot van Riel, Nathalie Brison, Machteld Baetens, et al.
Journal of Neuromuscular Diseases|May 26, 2019
Panel-Based Exome Sequencing for Neuromuscular Disorders as a Diagnostic ServiceDineke Westra, Meyke I Schouten, Bas C Stunnenberg, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 6, 2021
Clinical delineation, sex differences, and genotype-phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2Víctor Faundes, Stephanie Goh, Rhoda Akilapa, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
Implementation of fetal clinical exome sequencing: Comparing prospective and retrospective cohortsMartina Marangoni, Guillaume Smits, Gilles Ceysens, et al.
American Journal of Human Genetics|January 22, 2013
Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminusGea Beunders, Els Voorhoeve, Christelle Golzio, et al.
Pageof 4

Showing results (21-30 of 31) with videos related to

Sort By:
Pageof 4
Human Molecular Genetics|June 23, 2018
Biallelic B3GALT6 mutations cause spondylodysplastic Ehlers-Danlos syndromeTim Van Damme, Xiaomeng Pang, Brecht Guillemyn, et al.
Open Research Europe|April 11, 2025
Genomic findings with familial implications: agenda setting in light of mainstreamingAmicia Phillips, Eva Van Steijvoort, Maria Siermann, 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.
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.
Obstetrics and Gynecology|May 6, 2021
Performance and Diagnostic Value of Genome-Wide Noninvasive Prenatal Testing in Multiple GestationsMargot van Riel, Nathalie Brison, Machteld Baetens, et al.
Journal of Neuromuscular Diseases|May 26, 2019
Panel-Based Exome Sequencing for Neuromuscular Disorders as a Diagnostic ServiceDineke Westra, Meyke I Schouten, Bas C Stunnenberg, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 6, 2021
Clinical delineation, sex differences, and genotype-phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2Víctor Faundes, Stephanie Goh, Rhoda Akilapa, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
Implementation of fetal clinical exome sequencing: Comparing prospective and retrospective cohortsMartina Marangoni, Guillaume Smits, Gilles Ceysens, et al.
American Journal of Human Genetics|January 22, 2013
Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminusGea Beunders, Els Voorhoeve, Christelle Golzio, et al.
Pageof 4