Showing results (71-80 of 131) with videos related to

Sort By:
Pageof 14
European Journal of Medical Genetics|November 25, 2010
Clinical and molecular characterization of 17q21.31 microdeletion syndrome in 14 French patients with mental retardationChristèle Dubourg, Damien Sanlaville, Martine Doco-Fenzy, et al.
American Journal of Medical Genetics. Part A|August 4, 2021
Expanding the KIF4A-associated phenotypeSilvia Kalantari, Colleen Carlston, Norah Alsaleh, et al.
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.
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 ARID1B 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.
ACS Chemical Biology|November 27, 2014
2-Carboxyquinoxalines kill mycobacterium tuberculosis through noncovalent inhibition of DprE1João Neres, Ruben C Hartkoorn, Laurent R Chiarelli, et al.
Pageof 14