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Caroline Rooryck

Showing results (71-80 of 124) with videos related to

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American Journal of Medical Genetics. Part A|October 5, 2012
A homozygous balanced reciprocal translocation suggests LINC00237 as a candidate gene for MOMO (macrosomia, obesity, macrocephaly, and ocular abnormalities) syndromePhi Yen Vu, Jérôme Toutain, David Cappellen, et al.
Pediatric Cardiology|October 30, 2025
MYH6 in Congenital Heart Defects: A Genotype-Phenotype Characterization in a French CohortElise Daire, Clément Sauvestre, Antoine Moktadir, et al.
Blood|October 1, 2011
Thrombocytopenia resulting from mutations in filamin A can be expressed as an isolated syndromePaquita Nurden, Najet Debili, Isabelle Coupry, et al.
Clinical Genetics|June 28, 2019
FLNC pathogenic variants in patients with cardiomyopathies: Prevalence and genotype-phenotype correlationsFlavie Ader, Pascal De Groote, Patricia Réant, et al.
Nature Communications|March 10, 2019
CRISPR-Cas9 genome editing induces megabase-scale chromosomal truncationsGrégoire Cullot, Julian Boutin, Jérôme Toutain, et al.
Circulation. Genomic and Precision Medicine|January 17, 2019
International Triadin Knockout Syndrome RegistryDaniel J Clemens, David J Tester, John R Giudicessi, et al.
Circulation. Genomic and Precision Medicine|May 22, 2019
Whole Exome Sequencing Reveals a Large Genetic Heterogeneity and Revisits the Causes of Hypertrophic CardiomyopathyKarine Nguyen, Stéphane Roche, Erwan Donal, et al.
European Journal of Human Genetics : EJHG|October 17, 2013
Early-onset obesity and paternal 2pter deletion encompassing the ACP1, TMEM18, and MYT1L genesMartine Doco-Fenzy, Camille Leroy, Anouck Schneider, et al.
Nature Genetics|January 25, 2011
Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndromeCaroline Rooryck, Anna Diaz-Font, Daniel P S Osborn, et al.
Prenatal Diagnosis|March 22, 2019
Chromosomal microarray analysis in fetuses with an isolated congenital heart defect: A retrospective, nationwide, multicenter study in FranceMarguerite Hureaux, Sarah Guterman, Bérénice Hervé, et al.
Pageof 13

Showing results (71-80 of 124) with videos related to

Sort By:
Pageof 13
American Journal of Medical Genetics. Part A|October 5, 2012
A homozygous balanced reciprocal translocation suggests LINC00237 as a candidate gene for MOMO (macrosomia, obesity, macrocephaly, and ocular abnormalities) syndromePhi Yen Vu, Jérôme Toutain, David Cappellen, et al.
Pediatric Cardiology|October 30, 2025
MYH6 in Congenital Heart Defects: A Genotype-Phenotype Characterization in a French CohortElise Daire, Clément Sauvestre, Antoine Moktadir, et al.
Blood|October 1, 2011
Thrombocytopenia resulting from mutations in filamin A can be expressed as an isolated syndromePaquita Nurden, Najet Debili, Isabelle Coupry, et al.
Clinical Genetics|June 28, 2019
FLNC pathogenic variants in patients with cardiomyopathies: Prevalence and genotype-phenotype correlationsFlavie Ader, Pascal De Groote, Patricia Réant, et al.
Nature Communications|March 10, 2019
CRISPR-Cas9 genome editing induces megabase-scale chromosomal truncationsGrégoire Cullot, Julian Boutin, Jérôme Toutain, et al.
Circulation. Genomic and Precision Medicine|January 17, 2019
International Triadin Knockout Syndrome RegistryDaniel J Clemens, David J Tester, John R Giudicessi, et al.
Circulation. Genomic and Precision Medicine|May 22, 2019
Whole Exome Sequencing Reveals a Large Genetic Heterogeneity and Revisits the Causes of Hypertrophic CardiomyopathyKarine Nguyen, Stéphane Roche, Erwan Donal, et al.
European Journal of Human Genetics : EJHG|October 17, 2013
Early-onset obesity and paternal 2pter deletion encompassing the ACP1, TMEM18, and MYT1L genesMartine Doco-Fenzy, Camille Leroy, Anouck Schneider, et al.
Nature Genetics|January 25, 2011
Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndromeCaroline Rooryck, Anna Diaz-Font, Daniel P S Osborn, et al.
Prenatal Diagnosis|March 22, 2019
Chromosomal microarray analysis in fetuses with an isolated congenital heart defect: A retrospective, nationwide, multicenter study in FranceMarguerite Hureaux, Sarah Guterman, Bérénice Hervé, et al.
Pageof 13