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Emmanuelle Ranza

Showing results (21-30 of 52) with videos related to

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Frontiers in Immunology|February 14, 2022
Childhood-Onset Movement Disorders Can Mask a Primary Immunodeficiency: 6 Cases of Classical Ataxia-Telangiectasia and Variant FormsGeraldine Blanchard-Rohner, Anna Peirolo, Ludivine Coulon, et al.
Genes|August 27, 2021
Benefits of Exome Sequencing in Children with Suspected Isolated Hearing LossRoxane Van Heurck, Maria Teresa Carminho-Rodrigues, Emmanuelle Ranza, et al.
Journal of Human Genetics|May 3, 2018
Novel NEXMIF pathogenic variant in a boy with severe autistic features, intellectual disability, and epilepsy, and his mildly affected motherNelle Lambert, Corinne Dauve, Emmanuelle Ranza, et al.
Human Molecular Genetics|March 5, 2020
Biallelic variants in PSMB1 encoding the proteasome subunit β6 cause impairment of proteasome function, microcephaly, intellectual disability, developmental delay and short statureMuhammad Ansar, Frédéric Ebstein, Hayriye Özkoç, et al.
Clinical Genetics|April 2, 2020
Overlapping phenotypes between SHORT and Noonan syndromes in patients with PTPN11 pathogenic variantsEmmanuelle Ranza, Anne Guimier, Alain Verloes, et al.
Human Molecular Genetics|May 18, 2018
Visual impairment and progressive phthisis bulbi caused by recessive pathogenic variant in MARK3Muhammad Ansar, Hyunglok Chung, Yar M Waryah, et al.
Human Molecular Genetics|November 28, 2018
Biallelic variants in FBXL3 cause intellectual disability, delayed motor development and short statureMuhammad Ansar, Sohail Aziz Paracha, Alessandro Serretti, et al.
American Journal of Medical Genetics. Part A|October 22, 2022
Retrospective evaluation of clinical and molecular data of 148 cases of esophageal atresiaEmmanuelle Ranza, Morgane Le Gouez, Anne Guimier, et al.
Journal of Medical Genetics|November 5, 2024
Heterozygous de novo variants in <i>HSPD1</i> cause hypomyelinating leukodystrophy through impaired HSP60 oligomerisationMarina Eskin-Schwartz, Shaikah Seraidy, Eyal Paz, et al.
American Journal of Human Genetics|October 6, 2018
Bi-allelic Loss-of-Function Variants in DNMBP Cause Infantile CataractsMuhammad Ansar, Hyung-Lok Chung, Rachel L Taylor, et al.
Pageof 6

Showing results (21-30 of 52) with videos related to

Sort By:
Pageof 6
Frontiers in Immunology|February 14, 2022
Childhood-Onset Movement Disorders Can Mask a Primary Immunodeficiency: 6 Cases of Classical Ataxia-Telangiectasia and Variant FormsGeraldine Blanchard-Rohner, Anna Peirolo, Ludivine Coulon, et al.
Genes|August 27, 2021
Benefits of Exome Sequencing in Children with Suspected Isolated Hearing LossRoxane Van Heurck, Maria Teresa Carminho-Rodrigues, Emmanuelle Ranza, et al.
Journal of Human Genetics|May 3, 2018
Novel NEXMIF pathogenic variant in a boy with severe autistic features, intellectual disability, and epilepsy, and his mildly affected motherNelle Lambert, Corinne Dauve, Emmanuelle Ranza, et al.
Human Molecular Genetics|March 5, 2020
Biallelic variants in PSMB1 encoding the proteasome subunit β6 cause impairment of proteasome function, microcephaly, intellectual disability, developmental delay and short statureMuhammad Ansar, Frédéric Ebstein, Hayriye Özkoç, et al.
Clinical Genetics|April 2, 2020
Overlapping phenotypes between SHORT and Noonan syndromes in patients with PTPN11 pathogenic variantsEmmanuelle Ranza, Anne Guimier, Alain Verloes, et al.
Human Molecular Genetics|May 18, 2018
Visual impairment and progressive phthisis bulbi caused by recessive pathogenic variant in MARK3Muhammad Ansar, Hyunglok Chung, Yar M Waryah, et al.
Human Molecular Genetics|November 28, 2018
Biallelic variants in FBXL3 cause intellectual disability, delayed motor development and short statureMuhammad Ansar, Sohail Aziz Paracha, Alessandro Serretti, et al.
American Journal of Medical Genetics. Part A|October 22, 2022
Retrospective evaluation of clinical and molecular data of 148 cases of esophageal atresiaEmmanuelle Ranza, Morgane Le Gouez, Anne Guimier, et al.
Journal of Medical Genetics|November 5, 2024
Heterozygous de novo variants in <i>HSPD1</i> cause hypomyelinating leukodystrophy through impaired HSP60 oligomerisationMarina Eskin-Schwartz, Shaikah Seraidy, Eyal Paz, et al.
American Journal of Human Genetics|October 6, 2018
Bi-allelic Loss-of-Function Variants in DNMBP Cause Infantile CataractsMuhammad Ansar, Hyung-Lok Chung, Rachel L Taylor, et al.
Pageof 6