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Emmanuelle Ranza

Showing results (31-40 of 52) with videos related to

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American Journal of Human Genetics|May 14, 2019
Bi-allelic Variants in DYNC1I2 Cause Syndromic Microcephaly with Intellectual Disability, Cerebral Malformations, and Dysmorphic Facial FeaturesMuhammad Ansar, Farid Ullah, Sohail A Paracha, et al.
Human Molecular Genetics|January 7, 2020
Taurine treatment of retinal degeneration and cardiomyopathy in a consanguineous family with SLC6A6 taurine transporter deficiencyMuhammad Ansar, Emmanuelle Ranza, Madhur Shetty, et al.
American Journal of Human Genetics|March 3, 2015
Mutations in the NHEJ component XRCC4 cause primordial dwarfismJennie E Murray, Mirjam van der Burg, Hanna IJspeert, et al.
American Journal of Human Genetics|October 15, 2019
Bi-allelic Variants in IQSEC1 Cause Intellectual Disability, Developmental Delay, and Short StatureMuhammad Ansar, Hyung-Lok Chung, Ali Al-Otaibi, et al.
Human Mutation|November 1, 2020
De novo variants in CELF2 that disrupt the nuclear localization signal cause developmental and epileptic encephalopathyToshiyuki Itai, Kohei Hamanaka, Kazunori Sasaki, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 2, 2022
Heterozygous variants in CTR9, which encodes a major component of the PAF1 complex, are associated with a neurodevelopmental disorderMarije Meuwissen, Aline Verstraeten, Emmanuelle Ranza, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 11, 2011
Consanguineous marriages, pearls and perils: Geneva International Consanguinity Workshop ReportHanan Hamamy, Stylianos E Antonarakis, Luigi Luca Cavalli-Sforza, et al.
Nature Communications|April 11, 2023
FOXI3 pathogenic variants cause one form of craniofacial microsomiaKe Mao, Christelle Borel, Muhammad Ansar, et al.
American Journal of Human Genetics|February 12, 2026
A cardiovascular, craniofacial, and neurodevelopmental disorder caused by loss-of-function variants in the eIF3 complex component genes EIF3A and EIF3BEsra Erkut, Cherith Somerville, Marci L B Schwartz, et al.
American Journal of Human Genetics|October 1, 2025
A cardiovascular, craniofacial, and neurodevelopmental disorder caused by loss-of-function variants in the eIF3 complex component genes EIF3A and EIF3BEsra Erkut, Cherith Somerville, Marci L B Schwartz, et al.
Pageof 6

Showing results (31-40 of 52) with videos related to

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Pageof 6
American Journal of Human Genetics|May 14, 2019
Bi-allelic Variants in DYNC1I2 Cause Syndromic Microcephaly with Intellectual Disability, Cerebral Malformations, and Dysmorphic Facial FeaturesMuhammad Ansar, Farid Ullah, Sohail A Paracha, et al.
Human Molecular Genetics|January 7, 2020
Taurine treatment of retinal degeneration and cardiomyopathy in a consanguineous family with SLC6A6 taurine transporter deficiencyMuhammad Ansar, Emmanuelle Ranza, Madhur Shetty, et al.
American Journal of Human Genetics|March 3, 2015
Mutations in the NHEJ component XRCC4 cause primordial dwarfismJennie E Murray, Mirjam van der Burg, Hanna IJspeert, et al.
American Journal of Human Genetics|October 15, 2019
Bi-allelic Variants in IQSEC1 Cause Intellectual Disability, Developmental Delay, and Short StatureMuhammad Ansar, Hyung-Lok Chung, Ali Al-Otaibi, et al.
Human Mutation|November 1, 2020
De novo variants in CELF2 that disrupt the nuclear localization signal cause developmental and epileptic encephalopathyToshiyuki Itai, Kohei Hamanaka, Kazunori Sasaki, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 2, 2022
Heterozygous variants in CTR9, which encodes a major component of the PAF1 complex, are associated with a neurodevelopmental disorderMarije Meuwissen, Aline Verstraeten, Emmanuelle Ranza, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 11, 2011
Consanguineous marriages, pearls and perils: Geneva International Consanguinity Workshop ReportHanan Hamamy, Stylianos E Antonarakis, Luigi Luca Cavalli-Sforza, et al.
Nature Communications|April 11, 2023
FOXI3 pathogenic variants cause one form of craniofacial microsomiaKe Mao, Christelle Borel, Muhammad Ansar, et al.
American Journal of Human Genetics|February 12, 2026
A cardiovascular, craniofacial, and neurodevelopmental disorder caused by loss-of-function variants in the eIF3 complex component genes EIF3A and EIF3BEsra Erkut, Cherith Somerville, Marci L B Schwartz, et al.
American Journal of Human Genetics|October 1, 2025
A cardiovascular, craniofacial, and neurodevelopmental disorder caused by loss-of-function variants in the eIF3 complex component genes EIF3A and EIF3BEsra Erkut, Cherith Somerville, Marci L B Schwartz, et al.
Pageof 6