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Showing results (181-190 of 232) with videos related to

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Clinical Genetics|September 17, 2013
Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmiaN Chassaing, A Causse, A Vigouroux, 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.
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.
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.
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 2, 2019
Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndromePierre Vabres, Arthur Sorlin, Stanislav S Kholmanskikh, et al.
Journal of Medical Genetics|June 5, 2010
Microdeletion at chromosome 4q21 defines a new emerging syndrome with marked growth restriction, mental retardation and absent or severely delayed speechC Bonnet, J Andrieux, M Béri-Dexheimer, et al.
Pageof 24

Showing results (181-190 of 232) with videos related to

Sort By:
Pageof 24
Clinical Genetics|September 17, 2013
Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmiaN Chassaing, A Causse, A Vigouroux, 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.
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.
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.
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 2, 2019
Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndromePierre Vabres, Arthur Sorlin, Stanislav S Kholmanskikh, et al.
Journal of Medical Genetics|June 5, 2010
Microdeletion at chromosome 4q21 defines a new emerging syndrome with marked growth restriction, mental retardation and absent or severely delayed speechC Bonnet, J Andrieux, M Béri-Dexheimer, et al.
Pageof 24