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Paul Kuentz

Showing results (51-60 of 75) with videos related to

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European Journal of Human Genetics : EJHG|May 16, 2022
Same performance of exome sequencing before and after fetal autopsy for congenital abnormalities: toward a paradigm shift in prenatal diagnosis?Nicolas Bourgon, Aurore Garde, Ange-Line Bruel, et al.
Prenatal Diagnosis|November 14, 2024
Fetal Presentation of MYRF-Related Cardiac Urogenital Syndrome: An Emerging and Challenging Prenatal DiagnosisMaud Favier, Elise Brischoux-Boucher, Louise C Pyle, et al.
European Journal of Human Genetics : EJHG|October 29, 2015
A French multicenter study of over 700 patients with 22q11 deletions diagnosed using FISH or aCGHCéline Poirsier, Justine Besseau-Ayasse, Caroline Schluth-Bolard, et al.
European Journal of Medical Genetics|November 22, 2022
Further clinical and molecular characterization of an XLID syndrome associated with BRWD3 variants, a gene implicated in the leukemia-related JAK-STAT pathwayJulian Delanne, Magaly Lecat, Patrick R Blackburn, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 7, 2019
Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndromeThomas Besnard, Natacha Sloboda, Alice Goldenberg, et al.
European Journal of Human Genetics : EJHG|February 20, 2020
Primrose syndrome: a phenotypic comparison of patients with a ZBTB20 missense variant versus a 3q13.31 microdeletion including ZBTB20Aurélien Juven, Sophie Nambot, Amélie Piton, et al.
Journal of Medical Genetics|January 26, 2017
<i>STAG1</i> mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disabilityDaphné Lehalle, Anne-Laure Mosca-Boidron, Amber Begtrup, et al.
Molecular Genetics and Metabolism Reports|October 29, 2021
The diagnostic rate of inherited metabolic disorders by exome sequencing in a cohort of 547 individuals with developmental disordersJulian Delanne, Ange-Line Bruel, Frédéric Huet, et al.
Frontiers in Cell and Developmental Biology|March 17, 2023
Stepwise use of genomics and transcriptomics technologies increases diagnostic yield in Mendelian disordersEstelle Colin, Yannis Duffourd, Martin Chevarin, et al.
Prenatal Diagnosis|July 6, 2019
Risk estimation of uniparental disomy of chromosome 14 or 15 in a fetus with a parent carrying a non-homologous Robertsonian translocation. Should we still perform prenatal diagnosis?Kamran Moradkhani, Laurence Cuisset, Pierre Boisseau, et al.
Pageof 8

Showing results (51-60 of 75) with videos related to

Sort By:
Pageof 8
European Journal of Human Genetics : EJHG|May 16, 2022
Same performance of exome sequencing before and after fetal autopsy for congenital abnormalities: toward a paradigm shift in prenatal diagnosis?Nicolas Bourgon, Aurore Garde, Ange-Line Bruel, et al.
Prenatal Diagnosis|November 14, 2024
Fetal Presentation of MYRF-Related Cardiac Urogenital Syndrome: An Emerging and Challenging Prenatal DiagnosisMaud Favier, Elise Brischoux-Boucher, Louise C Pyle, et al.
European Journal of Human Genetics : EJHG|October 29, 2015
A French multicenter study of over 700 patients with 22q11 deletions diagnosed using FISH or aCGHCéline Poirsier, Justine Besseau-Ayasse, Caroline Schluth-Bolard, et al.
European Journal of Medical Genetics|November 22, 2022
Further clinical and molecular characterization of an XLID syndrome associated with BRWD3 variants, a gene implicated in the leukemia-related JAK-STAT pathwayJulian Delanne, Magaly Lecat, Patrick R Blackburn, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 7, 2019
Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndromeThomas Besnard, Natacha Sloboda, Alice Goldenberg, et al.
European Journal of Human Genetics : EJHG|February 20, 2020
Primrose syndrome: a phenotypic comparison of patients with a ZBTB20 missense variant versus a 3q13.31 microdeletion including ZBTB20Aurélien Juven, Sophie Nambot, Amélie Piton, et al.
Journal of Medical Genetics|January 26, 2017
<i>STAG1</i> mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disabilityDaphné Lehalle, Anne-Laure Mosca-Boidron, Amber Begtrup, et al.
Molecular Genetics and Metabolism Reports|October 29, 2021
The diagnostic rate of inherited metabolic disorders by exome sequencing in a cohort of 547 individuals with developmental disordersJulian Delanne, Ange-Line Bruel, Frédéric Huet, et al.
Frontiers in Cell and Developmental Biology|March 17, 2023
Stepwise use of genomics and transcriptomics technologies increases diagnostic yield in Mendelian disordersEstelle Colin, Yannis Duffourd, Martin Chevarin, et al.
Prenatal Diagnosis|July 6, 2019
Risk estimation of uniparental disomy of chromosome 14 or 15 in a fetus with a parent carrying a non-homologous Robertsonian translocation. Should we still perform prenatal diagnosis?Kamran Moradkhani, Laurence Cuisset, Pierre Boisseau, et al.
Pageof 8