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Catherine Vincent

Showing results (151-160 of 188) with videos related to

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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.
Journal of Medical Genetics|February 21, 2018
Diagnostic strategy in segmentation defect of the vertebrae: a retrospective study of 73 patientsMathilde Lefebvre, Anne Dieux-Coeslier, Geneviève Baujat, et al.
American Journal of Medical Genetics. Part A|April 21, 2022
Toward clinical and molecular dissection of frontonasal dysplasia with facial skin polyps: From Pai syndrome to differential diagnosis through a series of 27 patientsDaphné Lehalle, Ange-Line Bruel, Antonio Vitobello, et al.
Medrxiv : the Preprint Server for Health Sciences|April 29, 2025
Saturation genome editing of <i>RNU4-2</i> reveals distinct dominant and recessive neurodevelopmental disordersJoachim De Jonghe, Hyung Chul Kim, Ayanfeoluwa Adedeji, et al.
The Journal of Clinical Investigation|February 15, 2024
A metabolic signature for NADSYN1-dependent congenital NAD deficiency disorderJustin O Szot, Hartmut Cuny, Ella Mma Martin, et al.
Clinical Genetics|February 16, 2022
First evidence of SOX2 mutations in Peters' anomaly: Lessons from molecular screening of 95 patientsBertrand Chesneau, Marion Aubert-Mucca, Félix Fremont, et al.
Brain Communications|September 1, 2021
Pathogenic <i>NR2F1</i> variants cause a developmental ocular phenotype recapitulated in a mutant mouse modelNeringa Jurkute, Michele Bertacchi, Gavin Arno, et al.
Human Molecular Genetics|September 1, 2012
Immunochip analyses identify a novel risk locus for primary biliary cirrhosis at 13q14, multiple independent associations at four established risk loci and epistasis between 1p31 and 7q32 risk variantsBrian D Juran, Gideon M Hirschfield, Pietro Invernizzi, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 14, 2021
Correction to: Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalitiesVirginie Carmignac, Cyril Mignot, Emmanuelle Blanchard, et al.
Pageof 19

Showing results (151-160 of 188) with videos related to

Sort By:
Pageof 19
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.
Journal of Medical Genetics|February 21, 2018
Diagnostic strategy in segmentation defect of the vertebrae: a retrospective study of 73 patientsMathilde Lefebvre, Anne Dieux-Coeslier, Geneviève Baujat, et al.
American Journal of Medical Genetics. Part A|April 21, 2022
Toward clinical and molecular dissection of frontonasal dysplasia with facial skin polyps: From Pai syndrome to differential diagnosis through a series of 27 patientsDaphné Lehalle, Ange-Line Bruel, Antonio Vitobello, et al.
Medrxiv : the Preprint Server for Health Sciences|April 29, 2025
Saturation genome editing of <i>RNU4-2</i> reveals distinct dominant and recessive neurodevelopmental disordersJoachim De Jonghe, Hyung Chul Kim, Ayanfeoluwa Adedeji, et al.
The Journal of Clinical Investigation|February 15, 2024
A metabolic signature for NADSYN1-dependent congenital NAD deficiency disorderJustin O Szot, Hartmut Cuny, Ella Mma Martin, et al.
Clinical Genetics|February 16, 2022
First evidence of SOX2 mutations in Peters' anomaly: Lessons from molecular screening of 95 patientsBertrand Chesneau, Marion Aubert-Mucca, Félix Fremont, et al.
Brain Communications|September 1, 2021
Pathogenic <i>NR2F1</i> variants cause a developmental ocular phenotype recapitulated in a mutant mouse modelNeringa Jurkute, Michele Bertacchi, Gavin Arno, et al.
Human Molecular Genetics|September 1, 2012
Immunochip analyses identify a novel risk locus for primary biliary cirrhosis at 13q14, multiple independent associations at four established risk loci and epistasis between 1p31 and 7q32 risk variantsBrian D Juran, Gideon M Hirschfield, Pietro Invernizzi, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 14, 2021
Correction to: Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalitiesVirginie Carmignac, Cyril Mignot, Emmanuelle Blanchard, et al.
Pageof 19