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Odile Boute

Showing results (31-40 of 75) with videos related to

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European Journal of Human Genetics : EJHG|June 15, 2017
Sex chromosome aneuploidies and copy-number variants: a further explanation for neurodevelopmental prognosis variability?Jessica Le Gall, Mathilde Nizon, Olivier Pichon, et al.
Human Mutation|June 17, 2015
Mutations of the Imprinted CDKN1C Gene as a Cause of the Overgrowth Beckwith-Wiedemann Syndrome: Clinical Spectrum and Functional CharacterizationFrederic Brioude, Irène Netchine, Francoise Praz, et al.
American Journal of Human Genetics|February 8, 2011
FAF1, a gene that is disrupted in cleft palate and has conserved function in zebrafishMichella Ghassibe-Sabbagh, Laurence Desmyter, Tobias Langenberg, et al.
American Journal of Medical Genetics. Part A|March 3, 2015
Refinement of genotype-phenotype correlation in 18 patients carrying a 1q24q25 deletionNicolas Chatron, Véronique Haddad, Joris Andrieux, et al.
Clinical Genetics|April 1, 2024
Possible incomplete penetrance of Xq28 int22h-1/int22h-2 duplicationAlexis Billes, Mathilde Pujalte, Guillaume Jedraszak, 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|October 2, 2019
Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndromePierre Vabres, Arthur Sorlin, Stanislav S Kholmanskikh, et al.
American Journal of Medical Genetics. Part A|July 13, 2006
Frontometaphyseal dysplasia: mutations in FLNA and phenotypic diversityStephen P Robertson, Zandra A Jenkins, Timothy Morgan, et al.
Nature Genetics|February 9, 2020
Author Correction: Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndromePierre Vabres, Arthur Sorlin, Stanislav S Kholmanskikh, et al.
Nature Genetics|October 16, 2019
Author Correction: Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndromePierre Vabres, Arthur Sorlin, Stanislav S Kholmanskikh, et al.
Pageof 8

Showing results (31-40 of 75) with videos related to

Sort By:
Pageof 8
European Journal of Human Genetics : EJHG|June 15, 2017
Sex chromosome aneuploidies and copy-number variants: a further explanation for neurodevelopmental prognosis variability?Jessica Le Gall, Mathilde Nizon, Olivier Pichon, et al.
Human Mutation|June 17, 2015
Mutations of the Imprinted CDKN1C Gene as a Cause of the Overgrowth Beckwith-Wiedemann Syndrome: Clinical Spectrum and Functional CharacterizationFrederic Brioude, Irène Netchine, Francoise Praz, et al.
American Journal of Human Genetics|February 8, 2011
FAF1, a gene that is disrupted in cleft palate and has conserved function in zebrafishMichella Ghassibe-Sabbagh, Laurence Desmyter, Tobias Langenberg, et al.
American Journal of Medical Genetics. Part A|March 3, 2015
Refinement of genotype-phenotype correlation in 18 patients carrying a 1q24q25 deletionNicolas Chatron, Véronique Haddad, Joris Andrieux, et al.
Clinical Genetics|April 1, 2024
Possible incomplete penetrance of Xq28 int22h-1/int22h-2 duplicationAlexis Billes, Mathilde Pujalte, Guillaume Jedraszak, 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|October 2, 2019
Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndromePierre Vabres, Arthur Sorlin, Stanislav S Kholmanskikh, et al.
American Journal of Medical Genetics. Part A|July 13, 2006
Frontometaphyseal dysplasia: mutations in FLNA and phenotypic diversityStephen P Robertson, Zandra A Jenkins, Timothy Morgan, et al.
Nature Genetics|February 9, 2020
Author Correction: Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndromePierre Vabres, Arthur Sorlin, Stanislav S Kholmanskikh, et al.
Nature Genetics|October 16, 2019
Author Correction: Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndromePierre Vabres, Arthur Sorlin, Stanislav S Kholmanskikh, et al.
Pageof 8