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Catherine Vincent

Showing results (131-140 of 188) with videos related to

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Pediatric Neurology|February 15, 2023
The Spectrum of MORC2-Related Disorders: A Potential Link to Cockayne SyndromeSeth A Stafki, Johnnie Turner, Hannah R Littel, et al.
Journal of Hepatology|September 28, 2025
Phase II INTEGRIS-PSC trial of bexotegrast, an α<sub>v</sub>β<sub>6</sub>/α<sub>v</sub>β<sub>1</sub> integrin inhibitor, in primary sclerosing cholangitisGideon M Hirschfield, Kris V Kowdley, Palak J Trivedi, et al.
Nature Genetics|July 20, 2010
Variants at IRF5-TNPO3, 17q12-21 and MMEL1 are associated with primary biliary cirrhosisGideon M Hirschfield, Xiangdong Liu, Younghun Han, et al.
American Journal of Medical Genetics. Part A|December 15, 2018
The oculoauriculofrontonasal syndrome: Further clinical characterization and additional evidence suggesting a nontraditional mode of inheritanceDaphné Lehalle, Umut Altunoglu, Ange-Line Bruel, et al.
Fertility and Sterility|November 1, 2024
Chromosomal abnormalities in oocyte donor candidates: a French survey of over 8,200 karyotypesVincent Puy, Badria Bennani Smires, Jean-Pierre Siffroi, et al.
Clinical Genetics|June 6, 2026
Novel Variants in PUS7 Associated With Intellectual Disability and Growth Retardation: Expanding the Clinical Spectrum in 13 PatientsCamille Bergès, Clément Sauvestre, Sophie Naudion, et al.
Genes|August 27, 2021
A Case Series of Familial <i>ARID1B</i> Variants Illustrating Variable Expression and Suggestions to Update the ACMG CriteriaPleuntje J van der Sluijs, Mariëlle Alders, Alexander J M Dingemans, et al.
European Journal of Human Genetics : EJHG|January 14, 2016
Mutations in RIT1 cause Noonan syndrome with possible juvenile myelomonocytic leukemia but are not involved in acute lymphoblastic leukemiaHélène Cavé, Aurélie Caye, Nehla Ghedira, et al.
Nature Genetics|September 27, 2016
TSHZ3 deletion causes an autism syndrome and defects in cortical projection neuronsXavier Caubit, Paolo Gubellini, Joris Andrieux, et al.
American Journal of Medical Genetics. Part A|April 8, 2015
Clinical and molecular delineation of Tetrasomy 9p syndrome: report of 12 new cases and literature reviewLaïla El Khattabi, Sylvie Jaillard, Joris Andrieux, et al.
Pageof 19

Showing results (131-140 of 188) with videos related to

Sort By:
Pageof 19
Pediatric Neurology|February 15, 2023
The Spectrum of MORC2-Related Disorders: A Potential Link to Cockayne SyndromeSeth A Stafki, Johnnie Turner, Hannah R Littel, et al.
Journal of Hepatology|September 28, 2025
Phase II INTEGRIS-PSC trial of bexotegrast, an α<sub>v</sub>β<sub>6</sub>/α<sub>v</sub>β<sub>1</sub> integrin inhibitor, in primary sclerosing cholangitisGideon M Hirschfield, Kris V Kowdley, Palak J Trivedi, et al.
Nature Genetics|July 20, 2010
Variants at IRF5-TNPO3, 17q12-21 and MMEL1 are associated with primary biliary cirrhosisGideon M Hirschfield, Xiangdong Liu, Younghun Han, et al.
American Journal of Medical Genetics. Part A|December 15, 2018
The oculoauriculofrontonasal syndrome: Further clinical characterization and additional evidence suggesting a nontraditional mode of inheritanceDaphné Lehalle, Umut Altunoglu, Ange-Line Bruel, et al.
Fertility and Sterility|November 1, 2024
Chromosomal abnormalities in oocyte donor candidates: a French survey of over 8,200 karyotypesVincent Puy, Badria Bennani Smires, Jean-Pierre Siffroi, et al.
Clinical Genetics|June 6, 2026
Novel Variants in PUS7 Associated With Intellectual Disability and Growth Retardation: Expanding the Clinical Spectrum in 13 PatientsCamille Bergès, Clément Sauvestre, Sophie Naudion, et al.
Genes|August 27, 2021
A Case Series of Familial <i>ARID1B</i> Variants Illustrating Variable Expression and Suggestions to Update the ACMG CriteriaPleuntje J van der Sluijs, Mariëlle Alders, Alexander J M Dingemans, et al.
European Journal of Human Genetics : EJHG|January 14, 2016
Mutations in RIT1 cause Noonan syndrome with possible juvenile myelomonocytic leukemia but are not involved in acute lymphoblastic leukemiaHélène Cavé, Aurélie Caye, Nehla Ghedira, et al.
Nature Genetics|September 27, 2016
TSHZ3 deletion causes an autism syndrome and defects in cortical projection neuronsXavier Caubit, Paolo Gubellini, Joris Andrieux, et al.
American Journal of Medical Genetics. Part A|April 8, 2015
Clinical and molecular delineation of Tetrasomy 9p syndrome: report of 12 new cases and literature reviewLaïla El Khattabi, Sylvie Jaillard, Joris Andrieux, et al.
Pageof 19