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Bertrand Isidor

Showing results (11-20 of 365) with videos related to

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International Journal of Laboratory Hematology|December 24, 2022
The identification of giant platelets with disorganized granules can suggest ACTB gene mutationMarc Fouassier, Bertrand Isidor, Benjamin Cogne, et al.
American Journal of Medical Genetics. Part A|May 15, 2008
Cone-rod dystrophy, growth hormone deficiency and spondyloepiphyseal dysplasia: report of a new case without nephronophtisisBertrand Isidor, Martine Le Merrer, Emmanuelle Ramos, et al.
American Journal of Medical Genetics. Part A|May 7, 2011
Multiple capillary skin malformations, epilepsy, microcephaly, mental retardation, hypoplasia of the distal phalanges: report of a new case and further delineation of a new syndromeBertrand Isidor, Sébastien Barbarot, Claire Bénéteau, et al.
American Journal of Medical Genetics. Part A|December 17, 2009
Deletion of the CUL4B gene in a boy with mental retardation, minor facial anomalies, short stature, hypogonadism, and ataxiaBertrand Isidor, Olivier Pichon, Sabine Baron, et al.
American Journal of Medical Genetics. Part A|July 17, 2007
Genochondromatosis type II: report of a new patient and further delineation of the phenotypeBertrand Isidor, Sophie Guillard, Antoine Hamel, et al.
European Journal of Medical Genetics|June 1, 2018
Oro-dental phenotype in patients with RUNX2 duplicationLaure Merametdjian, Tony Prud'Homme, Cédric Le Caignec, et al.
Journal of Medical Case Reports|March 25, 2017
Three patients presenting with severe macrosomia and congenital hypertrophic cardiomyopathy: a case seriesMarie Vincent, Nadir Benbrik, Bénédicte Romefort, et al.
Journal of Human Genetics|April 26, 2017
Corrigendum: Novel KCNB1 mutation associated with non-syndromic intellectual disabilityXénia Latypova, Naomichi Matsumoto, Cécile Vinceslas-Muller, et al.
European Journal of Medical Genetics|November 26, 2018
A de novo 2q37.2 deletion encompassing AGAP1 and SH3BP4 in a patient with autism and intellectual disabilityMathilde Pacault, Mathilde Nizon, Olivier Pichon, et al.
Journal of Human Genetics|December 9, 2016
Novel KCNB1 mutation associated with non-syndromic intellectual disabilityXénia Latypova, Naomichi Matsumoto, Cécile Vinceslas-Muller, et al.
Pageof 37

Showing results (11-20 of 365) with videos related to

Sort By:
Pageof 37
International Journal of Laboratory Hematology|December 24, 2022
The identification of giant platelets with disorganized granules can suggest ACTB gene mutationMarc Fouassier, Bertrand Isidor, Benjamin Cogne, et al.
American Journal of Medical Genetics. Part A|May 15, 2008
Cone-rod dystrophy, growth hormone deficiency and spondyloepiphyseal dysplasia: report of a new case without nephronophtisisBertrand Isidor, Martine Le Merrer, Emmanuelle Ramos, et al.
American Journal of Medical Genetics. Part A|May 7, 2011
Multiple capillary skin malformations, epilepsy, microcephaly, mental retardation, hypoplasia of the distal phalanges: report of a new case and further delineation of a new syndromeBertrand Isidor, Sébastien Barbarot, Claire Bénéteau, et al.
American Journal of Medical Genetics. Part A|December 17, 2009
Deletion of the CUL4B gene in a boy with mental retardation, minor facial anomalies, short stature, hypogonadism, and ataxiaBertrand Isidor, Olivier Pichon, Sabine Baron, et al.
American Journal of Medical Genetics. Part A|July 17, 2007
Genochondromatosis type II: report of a new patient and further delineation of the phenotypeBertrand Isidor, Sophie Guillard, Antoine Hamel, et al.
European Journal of Medical Genetics|June 1, 2018
Oro-dental phenotype in patients with RUNX2 duplicationLaure Merametdjian, Tony Prud'Homme, Cédric Le Caignec, et al.
Journal of Medical Case Reports|March 25, 2017
Three patients presenting with severe macrosomia and congenital hypertrophic cardiomyopathy: a case seriesMarie Vincent, Nadir Benbrik, Bénédicte Romefort, et al.
Journal of Human Genetics|April 26, 2017
Corrigendum: Novel KCNB1 mutation associated with non-syndromic intellectual disabilityXénia Latypova, Naomichi Matsumoto, Cécile Vinceslas-Muller, et al.
European Journal of Medical Genetics|November 26, 2018
A de novo 2q37.2 deletion encompassing AGAP1 and SH3BP4 in a patient with autism and intellectual disabilityMathilde Pacault, Mathilde Nizon, Olivier Pichon, et al.
Journal of Human Genetics|December 9, 2016
Novel KCNB1 mutation associated with non-syndromic intellectual disabilityXénia Latypova, Naomichi Matsumoto, Cécile Vinceslas-Muller, et al.
Pageof 37