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LAFFARGUE

Showing results (311-320 of 332) with videos related to

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Human Mutation|June 17, 2015
Mutations of the Imprinted CDKN1C Gene as a Cause of the Overgrowth Beckwith-Wiedemann Syndrome: Clinical Spectrum and Functional CharacterizationFrederic Brioude, Irène Netchine, Francoise Praz, et al.
Revue De Chirurgie Orthopedique Et Reparatrice De L'Appareil Moteur|December 5, 2008
[Femoral neck fractures in patients over 50 years old]P Simon, F Gouin, D Veillard, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 8, 2023
Pathogenic variants in the paired-related homeobox 1 gene (PRRX1) cause craniosynostosis with incomplete penetranceRebecca S Tooze, Kerry A Miller, Sigrid M A Swagemakers, et al.
Molecular Genetics & Genomic Medicine|August 9, 2019
Hearing loss in inherited peripheral neuropathies: Molecular diagnosis by NGS in a French seriesJustine Lerat, Corinne Magdelaine, Anne-Françoise Roux, et al.
Journal of Medical Genetics|August 16, 2023
Multiple molecular diagnoses in the field of intellectual disability and congenital anomalies: 3.5% of all positive casesCaroline Racine, Anne-Sophie Denommé-Pichon, Camille Engel, et al.
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.
American Journal of Human Genetics|August 30, 2016
Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic ApneaStéphanie Bauché, Seana O'Regan, Yoshiteru Azuma, 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.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 26, 2024
DISP1 deficiency: Monoallelic and biallelic variants cause a spectrum of midline craniofacial malformationsAlinoë Lavillaureix, Paul Rollier, Artem Kim, 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.
Pageof 34

Showing results (311-320 of 332) with videos related to

Sort By:
Pageof 34
Human Mutation|June 17, 2015
Mutations of the Imprinted CDKN1C Gene as a Cause of the Overgrowth Beckwith-Wiedemann Syndrome: Clinical Spectrum and Functional CharacterizationFrederic Brioude, Irène Netchine, Francoise Praz, et al.
Revue De Chirurgie Orthopedique Et Reparatrice De L'Appareil Moteur|December 5, 2008
[Femoral neck fractures in patients over 50 years old]P Simon, F Gouin, D Veillard, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 8, 2023
Pathogenic variants in the paired-related homeobox 1 gene (PRRX1) cause craniosynostosis with incomplete penetranceRebecca S Tooze, Kerry A Miller, Sigrid M A Swagemakers, et al.
Molecular Genetics & Genomic Medicine|August 9, 2019
Hearing loss in inherited peripheral neuropathies: Molecular diagnosis by NGS in a French seriesJustine Lerat, Corinne Magdelaine, Anne-Françoise Roux, et al.
Journal of Medical Genetics|August 16, 2023
Multiple molecular diagnoses in the field of intellectual disability and congenital anomalies: 3.5% of all positive casesCaroline Racine, Anne-Sophie Denommé-Pichon, Camille Engel, et al.
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.
American Journal of Human Genetics|August 30, 2016
Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic ApneaStéphanie Bauché, Seana O'Regan, Yoshiteru Azuma, 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.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 26, 2024
DISP1 deficiency: Monoallelic and biallelic variants cause a spectrum of midline craniofacial malformationsAlinoë Lavillaureix, Paul Rollier, Artem Kim, 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.
Pageof 34