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Koenraad Devriendt

Showing results (131-140 of 190) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 15, 2019
Maternal copy-number variations in the DMD gene as secondary findings in noninvasive prenatal screeningNathalie Brison, Jazz Storms, Darine Villela, et al.
Journal of Medical Genetics|May 29, 2012
Further delineation of the phenotype of chromosome 14q13 deletions: (positional) involvement of FOXG1 appears the main determinant of phenotype severity, with no evidence for a holoprosencephaly locusGijs W E Santen, Yu Sun, Antoinet C J Gijsbers, et al.
NPJ Genomic Medicine|September 13, 2022
Machine learning-based detection of immune-mediated diseases from genome-wide cell-free DNA sequencing datasetsHuiwen Che, Tatjana Jatsenko, Lore Lannoo, et al.
Journal of Medical Genetics|January 15, 2020
The clinical relevance of intragenic <i>NRXN1</i> deletionsNele Cosemans, Laura Vandenhove, Annick Vogels, et al.
European Journal of Medical Genetics|October 16, 2012
Duplication 16p13.3 and the CREBBP gene: confirmation of the phenotypeBénédicte Demeer, Joris Andrieux, Aline Receveur, et al.
European Journal of Human Genetics : EJHG|July 27, 2022
Rare autosomal trisomies detected by non-invasive prenatal testing: an overview of current knowledgeLore Lannoo, Khaila van Straaten, Jeroen Breckpot, et al.
European Journal of Human Genetics : EJHG|June 16, 2018
Phenotypic spectrum of Au-Kline syndrome: a report of six new cases and review of the literatureP Y Billie Au, Caitlin Goedhart, Marcia Ferguson, et al.
Investigative Ophthalmology & Visual Science|February 14, 2015
Novel FRMD7 Mutations and Genomic Rearrangement Expand the Molecular Pathogenesis of X-Linked Idiopathic Infantile NystagmusBasamat AlMoallem, Miriam Bauwens, Sophie Walraedt, et al.
Human Genome Variation|June 9, 2016
A catalog of hemizygous variation in 127 22q11 deletion patientsMatthew S Hestand, Beata A Nowakowska, Elfi Vergaelen, et al.
American Journal of Medical Genetics. Part A|January 20, 2007
A report on 10 new patients with heterozygous mutations in the COL11A1 gene and a review of genotype-phenotype correlations in type XI collagenopathiesMarja Majava, Kristien P Hoornaert, Deborah Bartholdi, et al.
Pageof 19

Showing results (131-140 of 190) with videos related to

Sort By:
Pageof 19
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 15, 2019
Maternal copy-number variations in the DMD gene as secondary findings in noninvasive prenatal screeningNathalie Brison, Jazz Storms, Darine Villela, et al.
Journal of Medical Genetics|May 29, 2012
Further delineation of the phenotype of chromosome 14q13 deletions: (positional) involvement of FOXG1 appears the main determinant of phenotype severity, with no evidence for a holoprosencephaly locusGijs W E Santen, Yu Sun, Antoinet C J Gijsbers, et al.
NPJ Genomic Medicine|September 13, 2022
Machine learning-based detection of immune-mediated diseases from genome-wide cell-free DNA sequencing datasetsHuiwen Che, Tatjana Jatsenko, Lore Lannoo, et al.
Journal of Medical Genetics|January 15, 2020
The clinical relevance of intragenic <i>NRXN1</i> deletionsNele Cosemans, Laura Vandenhove, Annick Vogels, et al.
European Journal of Medical Genetics|October 16, 2012
Duplication 16p13.3 and the CREBBP gene: confirmation of the phenotypeBénédicte Demeer, Joris Andrieux, Aline Receveur, et al.
European Journal of Human Genetics : EJHG|July 27, 2022
Rare autosomal trisomies detected by non-invasive prenatal testing: an overview of current knowledgeLore Lannoo, Khaila van Straaten, Jeroen Breckpot, et al.
European Journal of Human Genetics : EJHG|June 16, 2018
Phenotypic spectrum of Au-Kline syndrome: a report of six new cases and review of the literatureP Y Billie Au, Caitlin Goedhart, Marcia Ferguson, et al.
Investigative Ophthalmology & Visual Science|February 14, 2015
Novel FRMD7 Mutations and Genomic Rearrangement Expand the Molecular Pathogenesis of X-Linked Idiopathic Infantile NystagmusBasamat AlMoallem, Miriam Bauwens, Sophie Walraedt, et al.
Human Genome Variation|June 9, 2016
A catalog of hemizygous variation in 127 22q11 deletion patientsMatthew S Hestand, Beata A Nowakowska, Elfi Vergaelen, et al.
American Journal of Medical Genetics. Part A|January 20, 2007
A report on 10 new patients with heterozygous mutations in the COL11A1 gene and a review of genotype-phenotype correlations in type XI collagenopathiesMarja Majava, Kristien P Hoornaert, Deborah Bartholdi, et al.
Pageof 19