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Koen Devriendt

Showing results (151-160 of 183) with videos related to

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Journal of Medical Genetics|March 19, 2011
Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasiaSlimane Allali, Carine Le Goff, Isabelle Pressac-Diebold, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 5, 2022
FOSL2 truncating variants in the last exon cause a neurodevelopmental disorder with scalp and enamel defectsAuriane Cospain, Ana Rivera-Barahona, Erwan Dumontet, et al.
Nature Medicine|January 23, 2003
VEGF: a modifier of the del22q11 (DiGeorge) syndrome?Ingeborg Stalmans, Diether Lambrechts, Frederik De Smet, et al.
Human Genetics|January 9, 2016
Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndromeElisabeth E Mlynarski, Michael Xie, Deanne Taylor, 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.
European Journal of Human Genetics : EJHG|August 12, 2025
Non-isolated tetralogy of fallot (TOF+): exome sequencing efficacy and phenotypic expansionsJulia Volpi, Xiaonan Zhao, Nichole Owen, et al.
American Journal of Medical Genetics. Part A|October 5, 2012
Overt cleft palate phenotype and TBX1 genotype correlations in velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patientsSean B Herman, Tingwei Guo, Donna M McDonald McGinn, et al.
Circulation Research|May 3, 2012
NPHP4 variants are associated with pleiotropic heart malformationsVanessa M French, Ingrid M B H van de Laar, Marja W Wessels, et al.
American Journal of Human Genetics|April 21, 2015
Copy-Number Variation of the Glucose Transporter Gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion SyndromeElisabeth E Mlynarski, Molly B Sheridan, Michael Xie, et al.
American Journal of Human Genetics|June 21, 2011
Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasiasCarine Le Goff, Clémentine Mahaut, Lauren W Wang, et al.
Pageof 19

Showing results (151-160 of 183) with videos related to

Sort By:
Pageof 19
Journal of Medical Genetics|March 19, 2011
Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasiaSlimane Allali, Carine Le Goff, Isabelle Pressac-Diebold, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 5, 2022
FOSL2 truncating variants in the last exon cause a neurodevelopmental disorder with scalp and enamel defectsAuriane Cospain, Ana Rivera-Barahona, Erwan Dumontet, et al.
Nature Medicine|January 23, 2003
VEGF: a modifier of the del22q11 (DiGeorge) syndrome?Ingeborg Stalmans, Diether Lambrechts, Frederik De Smet, et al.
Human Genetics|January 9, 2016
Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndromeElisabeth E Mlynarski, Michael Xie, Deanne Taylor, 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.
European Journal of Human Genetics : EJHG|August 12, 2025
Non-isolated tetralogy of fallot (TOF+): exome sequencing efficacy and phenotypic expansionsJulia Volpi, Xiaonan Zhao, Nichole Owen, et al.
American Journal of Medical Genetics. Part A|October 5, 2012
Overt cleft palate phenotype and TBX1 genotype correlations in velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patientsSean B Herman, Tingwei Guo, Donna M McDonald McGinn, et al.
Circulation Research|May 3, 2012
NPHP4 variants are associated with pleiotropic heart malformationsVanessa M French, Ingrid M B H van de Laar, Marja W Wessels, et al.
American Journal of Human Genetics|April 21, 2015
Copy-Number Variation of the Glucose Transporter Gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion SyndromeElisabeth E Mlynarski, Molly B Sheridan, Michael Xie, et al.
American Journal of Human Genetics|June 21, 2011
Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasiasCarine Le Goff, Clémentine Mahaut, Lauren W Wang, et al.
Pageof 19