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Koenraad Devriendt

Showing results (161-170 of 190) with videos related to

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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.
Human Mutation|February 1, 2011
MLL2 mutation spectrum in 45 patients with Kabuki syndromeAimée D C Paulussen, Alexander P A Stegmann, Marinus J Blok, 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.
Journal of Medical Genetics|March 5, 2013
Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvementMiriam Schmidts, Heleen H Arts, Ernie M H F Bongers, et al.
Circulation Research|December 25, 2018
Whole Exome Sequencing Reveals the Major Genetic Contributors to Nonsyndromic Tetralogy of FallotDonna J Page, Matthieu J Miossec, Simon G Williams, et al.
American Journal of Human Genetics|December 9, 2017
ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental DisorderSara Cuvertino, Helen M Stuart, Kate E Chandler, et al.
Nature Genetics|April 24, 2012
Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycanTony Roscioli, Erik-Jan Kamsteeg, Karen Buysse, et al.
European Journal of Human Genetics : EJHG|October 7, 2018
Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disabilityRosalind Verheije, Gabriel S Kupchik, Bertrand Isidor, et al.
American Journal of Medical Genetics. Part A|February 5, 2016
Clinical delineation of the PACS1-related syndrome--Report on 19 patientsJanneke H M Schuurs-Hoeijmakers, Megan L Landsverk, Nicola Foulds, et al.
Human Mutation|December 16, 2017
Autosomal recessive primary microcephaly due to ASPM mutations: An updatePascaline Létard, Séverine Drunat, Yoann Vial, et al.
Pageof 19

Showing results (161-170 of 190) with videos related to

Sort By:
Pageof 19
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.
Human Mutation|February 1, 2011
MLL2 mutation spectrum in 45 patients with Kabuki syndromeAimée D C Paulussen, Alexander P A Stegmann, Marinus J Blok, 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.
Journal of Medical Genetics|March 5, 2013
Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvementMiriam Schmidts, Heleen H Arts, Ernie M H F Bongers, et al.
Circulation Research|December 25, 2018
Whole Exome Sequencing Reveals the Major Genetic Contributors to Nonsyndromic Tetralogy of FallotDonna J Page, Matthieu J Miossec, Simon G Williams, et al.
American Journal of Human Genetics|December 9, 2017
ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental DisorderSara Cuvertino, Helen M Stuart, Kate E Chandler, et al.
Nature Genetics|April 24, 2012
Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycanTony Roscioli, Erik-Jan Kamsteeg, Karen Buysse, et al.
European Journal of Human Genetics : EJHG|October 7, 2018
Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disabilityRosalind Verheije, Gabriel S Kupchik, Bertrand Isidor, et al.
American Journal of Medical Genetics. Part A|February 5, 2016
Clinical delineation of the PACS1-related syndrome--Report on 19 patientsJanneke H M Schuurs-Hoeijmakers, Megan L Landsverk, Nicola Foulds, et al.
Human Mutation|December 16, 2017
Autosomal recessive primary microcephaly due to ASPM mutations: An updatePascaline Létard, Séverine Drunat, Yoann Vial, et al.
Pageof 19