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Bruno Reversade

Showing results (121-130 of 134) with videos related to

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American Journal of Human Genetics|May 3, 2016
Identification of Common Genetic Variants Influencing Spontaneous Dizygotic Twinning and Female FertilityHamdi Mbarek, Stacy Steinberg, Dale R Nyholt, et al.
American Journal of Human Genetics|April 10, 2026
Bi-allelic WDHD1 variants cause microcephalic primordial dwarfismDebora Tibbe, Marie Ronja Vogt, Tess Holling, et al.
Nature Genetics|August 4, 2009
Mutations in PYCR1 cause cutis laxa with progeroid featuresBruno Reversade, Nathalie Escande-Beillard, Aikaterini Dimopoulou, et al.
Human Mutation|November 1, 2020
Next-generation sequencing in a series of 80 fetuses with complex cardiac malformations and/or heterotaxyHui Liu, Anna-Gaëlle Giguet-Valard, Thomas Simonet, et al.
American Journal of Human Genetics|January 3, 2025
CIROZ is dispensable in ancestral vertebrates but essential for left-right patterning in humansEmmanuelle Szenker-Ravi, Tim Ott, Amirah Yusof, et al.
Nature Genetics|July 21, 2022
Loss of FOCAD, operating via the SKI messenger RNA surveillance pathway, causes a pediatric syndrome with liver cirrhosisRicardo Moreno Traspas, Tze Shin Teoh, Pui-Mun Wong, et al.
Nature Genetics|January 10, 2017
De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal developmentChristopher T Gordon, Shifeng Xue, Gökhan Yigit, et al.
Journal of Medical Genetics|March 15, 2017
Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genesAnge-Line Bruel, Brunella Franco, Yannis Duffourd, et al.
American Journal of Human Genetics|April 11, 2025
FBXO22 deficiency defines a pleiotropic syndrome of growth restriction and multi-system anomalies associated with a unique epigenetic signatureNavin B Ramakrishna, Umar Bin Mohamad Sahari, Yoshikazu Johmura, et al.
Human Reproduction (Oxford, England)|December 5, 2023
Genome-wide association study meta-analysis of dizygotic twinning illuminates genetic regulation of female fecundityHamdi Mbarek, Scott D Gordon, David L Duffy, et al.
Pageof 14

Showing results (121-130 of 134) with videos related to

Sort By:
Pageof 14
American Journal of Human Genetics|May 3, 2016
Identification of Common Genetic Variants Influencing Spontaneous Dizygotic Twinning and Female FertilityHamdi Mbarek, Stacy Steinberg, Dale R Nyholt, et al.
American Journal of Human Genetics|April 10, 2026
Bi-allelic WDHD1 variants cause microcephalic primordial dwarfismDebora Tibbe, Marie Ronja Vogt, Tess Holling, et al.
Nature Genetics|August 4, 2009
Mutations in PYCR1 cause cutis laxa with progeroid featuresBruno Reversade, Nathalie Escande-Beillard, Aikaterini Dimopoulou, et al.
Human Mutation|November 1, 2020
Next-generation sequencing in a series of 80 fetuses with complex cardiac malformations and/or heterotaxyHui Liu, Anna-Gaëlle Giguet-Valard, Thomas Simonet, et al.
American Journal of Human Genetics|January 3, 2025
CIROZ is dispensable in ancestral vertebrates but essential for left-right patterning in humansEmmanuelle Szenker-Ravi, Tim Ott, Amirah Yusof, et al.
Nature Genetics|July 21, 2022
Loss of FOCAD, operating via the SKI messenger RNA surveillance pathway, causes a pediatric syndrome with liver cirrhosisRicardo Moreno Traspas, Tze Shin Teoh, Pui-Mun Wong, et al.
Nature Genetics|January 10, 2017
De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal developmentChristopher T Gordon, Shifeng Xue, Gökhan Yigit, et al.
Journal of Medical Genetics|March 15, 2017
Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genesAnge-Line Bruel, Brunella Franco, Yannis Duffourd, et al.
American Journal of Human Genetics|April 11, 2025
FBXO22 deficiency defines a pleiotropic syndrome of growth restriction and multi-system anomalies associated with a unique epigenetic signatureNavin B Ramakrishna, Umar Bin Mohamad Sahari, Yoshikazu Johmura, et al.
Human Reproduction (Oxford, England)|December 5, 2023
Genome-wide association study meta-analysis of dizygotic twinning illuminates genetic regulation of female fecundityHamdi Mbarek, Scott D Gordon, David L Duffy, et al.
Pageof 14