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Tania Attie-Bitach

Showing results (11-20 of 74) with videos related to

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European Journal of Medical Genetics|August 20, 2013
12q21 Microdeletion in a fetus with Meckel syndrome involving CEP290/MKS4Arnaud Molin, Guillaume Benoist, Corinne Jeanne-Pasquier, et al.
Orphanet Journal of Rare Diseases|June 5, 2020
Should autism spectrum disorder be considered part of CHARGE syndrome? A cross-sectional study of 46 patientsVéronique Abadie, Priscilla Hamiaux, Stéphanie Ragot, et al.
American Journal of Medical Genetics. Part A|May 29, 2013
Contiguous gene deletion of TBX5 and TBX3 leads to a varible phenotype with combined features of Holt-Oram and ulnar-mammary syndromesCaroline Alby, Bettina Bessieres, Eric Bieth, et al.
Prenatal Diagnosis|February 2, 2006
Molecular characterisation of a prenatally diagnosed 5q15q21.3 deletion and review of the literatureValérie Malan, Jelena Martinovic, Damien Sanlaville, et al.
Clinical Genetics|March 23, 2023
Clinical heterogeneity of NADSYN1-associated VCRL syndromeMarion Aubert-Mucca, Caroline Janel, Valérie Porquet-Bordes, et al.
Molecular Genetics & Genomic Medicine|June 24, 2023
Diagnosis of Menke-Hennekam syndrome by prenatal whole exome sequencing and review of prenatal signsGuillaume Cogan, Nicolas Bourgon, Roxana Borghese, et al.
American Journal of Medical Genetics. Part A|July 23, 2021
Homozygous GLI3 variants observed in three unrelated patients presenting with syndromic polydactylyAhmed El Mouatani, Géraldine Van Winckel, Khaoula Zaafrane-Khachnaoui, et al.
Prenatal Diagnosis|November 12, 2024
Use of Prenatal Exome Sequencing: Opinion Statement of the French Federation of Human Genetics Working GroupGuillaume Cogan, Marie-Bérengère Troadec, Françoise Devillard, et al.
Birth Defects Research|January 10, 2018
Whole exome sequencing diagnoses the first fetal case of Bainbridge-Ropers syndrome presenting as pontocerebellar hypoplasia type 1Séverine Bacrot, Charlotte Mechler, Naima Talhi, et al.
Prenatal Diagnosis|April 18, 2024
Artificial intelligence-based diagnosis in fetal pathology using external ear shapesQuentin Hennocq, Nicolas Garcelon, Thomas Bongibault, et al.
Pageof 8

Showing results (11-20 of 74) with videos related to

Sort By:
Pageof 8
European Journal of Medical Genetics|August 20, 2013
12q21 Microdeletion in a fetus with Meckel syndrome involving CEP290/MKS4Arnaud Molin, Guillaume Benoist, Corinne Jeanne-Pasquier, et al.
Orphanet Journal of Rare Diseases|June 5, 2020
Should autism spectrum disorder be considered part of CHARGE syndrome? A cross-sectional study of 46 patientsVéronique Abadie, Priscilla Hamiaux, Stéphanie Ragot, et al.
American Journal of Medical Genetics. Part A|May 29, 2013
Contiguous gene deletion of TBX5 and TBX3 leads to a varible phenotype with combined features of Holt-Oram and ulnar-mammary syndromesCaroline Alby, Bettina Bessieres, Eric Bieth, et al.
Prenatal Diagnosis|February 2, 2006
Molecular characterisation of a prenatally diagnosed 5q15q21.3 deletion and review of the literatureValérie Malan, Jelena Martinovic, Damien Sanlaville, et al.
Clinical Genetics|March 23, 2023
Clinical heterogeneity of NADSYN1-associated VCRL syndromeMarion Aubert-Mucca, Caroline Janel, Valérie Porquet-Bordes, et al.
Molecular Genetics & Genomic Medicine|June 24, 2023
Diagnosis of Menke-Hennekam syndrome by prenatal whole exome sequencing and review of prenatal signsGuillaume Cogan, Nicolas Bourgon, Roxana Borghese, et al.
American Journal of Medical Genetics. Part A|July 23, 2021
Homozygous GLI3 variants observed in three unrelated patients presenting with syndromic polydactylyAhmed El Mouatani, Géraldine Van Winckel, Khaoula Zaafrane-Khachnaoui, et al.
Prenatal Diagnosis|November 12, 2024
Use of Prenatal Exome Sequencing: Opinion Statement of the French Federation of Human Genetics Working GroupGuillaume Cogan, Marie-Bérengère Troadec, Françoise Devillard, et al.
Birth Defects Research|January 10, 2018
Whole exome sequencing diagnoses the first fetal case of Bainbridge-Ropers syndrome presenting as pontocerebellar hypoplasia type 1Séverine Bacrot, Charlotte Mechler, Naima Talhi, et al.
Prenatal Diagnosis|April 18, 2024
Artificial intelligence-based diagnosis in fetal pathology using external ear shapesQuentin Hennocq, Nicolas Garcelon, Thomas Bongibault, et al.
Pageof 8