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Koen Devriendt

Showing results (121-130 of 183) with videos related to

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American Journal of Human Genetics|May 25, 2010
Haploinsufficiency of TAB2 causes congenital heart defects in humansBernard Thienpont, Litu Zhang, Alex V Postma, et al.
Human Mutation|December 13, 2006
Novel FGFR1 sequence variants in Kallmann syndrome, and genetic evidence that the FGFR1c isoform is required in olfactory bulb and palate morphogenesisCatherine Dodé, Corinne Fouveaut, Geert Mortier, et al.
Journal of Neurodevelopmental Disorders|February 9, 2019
Rare copy number variations affecting the synaptic gene DMXL2 in neurodevelopmental disordersGregory Costain, Susan Walker, Bob Argiropoulos, et al.
Nature Medicine|August 28, 2023
Cell-free DNA methylome analysis for early preeclampsia predictionMarie De Borre, Huiwen Che, Qian Yu, et al.
American Journal of Medical Genetics. Part A|August 12, 2011
Pierpont syndrome: a collaborative studyEmma M M Burkitt Wright, Mohnish Suri, Susan M White, et al.
European Journal of Human Genetics : EJHG|January 15, 2015
Noninvasive prenatal testing using a novel analysis pipeline to screen for all autosomal fetal aneuploidies improves pregnancy managementBaran Bayindir, Luc Dehaspe, Nathalie Brison, et al.
Kidney International Reports|June 25, 2021
Enhanced MCP-1 Release in Early Autosomal Dominant Polycystic Kidney DiseasePeter Janssens, Jean-Paul Decuypere, Stéphanie De Rechter, et al.
Human Genetics|June 21, 2013
The mitochondrial solute carrier SLC25A5 at Xq24 is a novel candidate gene for non-syndromic intellectual disabilityJoke Vandewalle, Marijke Bauters, Hilde Van Esch, et al.
American Journal of Medical Genetics. Part A|June 5, 2003
Inv(X)(p21.1;q22.1) in a man with mental retardation, short stature, general muscle wasting, and facial dysmorphism: clinical study and mutation analysis of the NXF5 geneSuzanna G M Frints, Lin Jun, Jean-Pierre Fryns, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 22, 2015
Exome sequencing identifies rare variants in multiple genes in atrioventricular septal defectLisa C A D'Alessandro, Saeed Al Turki, Ashok Kumar Manickaraj, et al.
Pageof 19

Showing results (121-130 of 183) with videos related to

Sort By:
Pageof 19
American Journal of Human Genetics|May 25, 2010
Haploinsufficiency of TAB2 causes congenital heart defects in humansBernard Thienpont, Litu Zhang, Alex V Postma, et al.
Human Mutation|December 13, 2006
Novel FGFR1 sequence variants in Kallmann syndrome, and genetic evidence that the FGFR1c isoform is required in olfactory bulb and palate morphogenesisCatherine Dodé, Corinne Fouveaut, Geert Mortier, et al.
Journal of Neurodevelopmental Disorders|February 9, 2019
Rare copy number variations affecting the synaptic gene DMXL2 in neurodevelopmental disordersGregory Costain, Susan Walker, Bob Argiropoulos, et al.
Nature Medicine|August 28, 2023
Cell-free DNA methylome analysis for early preeclampsia predictionMarie De Borre, Huiwen Che, Qian Yu, et al.
American Journal of Medical Genetics. Part A|August 12, 2011
Pierpont syndrome: a collaborative studyEmma M M Burkitt Wright, Mohnish Suri, Susan M White, et al.
European Journal of Human Genetics : EJHG|January 15, 2015
Noninvasive prenatal testing using a novel analysis pipeline to screen for all autosomal fetal aneuploidies improves pregnancy managementBaran Bayindir, Luc Dehaspe, Nathalie Brison, et al.
Kidney International Reports|June 25, 2021
Enhanced MCP-1 Release in Early Autosomal Dominant Polycystic Kidney DiseasePeter Janssens, Jean-Paul Decuypere, Stéphanie De Rechter, et al.
Human Genetics|June 21, 2013
The mitochondrial solute carrier SLC25A5 at Xq24 is a novel candidate gene for non-syndromic intellectual disabilityJoke Vandewalle, Marijke Bauters, Hilde Van Esch, et al.
American Journal of Medical Genetics. Part A|June 5, 2003
Inv(X)(p21.1;q22.1) in a man with mental retardation, short stature, general muscle wasting, and facial dysmorphism: clinical study and mutation analysis of the NXF5 geneSuzanna G M Frints, Lin Jun, Jean-Pierre Fryns, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 22, 2015
Exome sequencing identifies rare variants in multiple genes in atrioventricular septal defectLisa C A D'Alessandro, Saeed Al Turki, Ashok Kumar Manickaraj, et al.
Pageof 19