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Florence Coulet

Showing results (71-80 of 114) with videos related to

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Medrxiv : the Preprint Server for Health Sciences|December 9, 2024
Adaptation of ACMG/AMP guidelines for clinical classification of <i>BMPR2</i> variants in Pulmonary Arterial Hypertension resolves variants of unclear pathogenicity in ClinVarChristina A Eichstaedt, Gabriel Maldonado-Velez, Rajiv D Machado, et al.
Cancer Research|November 19, 2004
Significant contribution of germline BRCA2 rearrangements in male breast cancer familiesIsabelle Tournier, Brigitte Bressac-de Paillerets, Hagay Sobol, et al.
Gastric Cancer : Official Journal of the International Gastric Cancer Association and the Japanese Gastric Cancer Association|December 6, 2018
Clinical implications of CTNNA1 germline mutations in asymptomatic carriersPatrick R Benusiglio, Chrystelle Colas, Erell Guillerm, et al.
The American Journal of Gastroenterology|September 2, 2008
Identification in daily practice of patients with Lynch syndrome (hereditary nonpolyposis colorectal cancer): revised Bethesda guidelines-based approach versus molecular screeningCatherine Julié, Christophe Trésallet, Antoine Brouquet, et al.
European Journal of Cancer (Oxford, England : 1990)|October 26, 2021
Standardisation of pathogenicity classification for somatic alterations in solid tumours and haematologic malignanciesFlorence Koeppel, Etienne Muller, Alexandre Harlé, et al.
The European Respiratory Journal|December 11, 2025
Pulmonary hypertension in patients with Noonan syndromeJulien Grynblat, Mathieu Farges, Pascal Magro, et al.
The European Respiratory Journal|March 21, 2024
Pulmonary vascular phenotype identified in patients with <i>GDF2</i> (<i>BMP9</i>) or <i>BMP10</i> variants: an international multicentre studyJulien Grynblat, Harm Jan Bogaard, Mélanie Eyries, et al.
Journal of Medical Genetics|May 28, 2013
CDH1 germline mutations and the hereditary diffuse gastric and lobular breast cancer syndrome: a multicentre studyPatrick R Benusiglio, David Malka, Etienne Rouleau, et al.
Frontiers in Cell and Developmental Biology|October 28, 2021
Low-Coverage Whole Genome Sequencing of Cell-Free DNA From Immunosuppressed Cancer Patients Enables Tumor Fraction Determination and Reveals Relevant Copy Number AlterationsAmira Bouzidi, Karim Labreche, Marine Baron, et al.
Journal of Medical Genetics|August 20, 2025
Development of a functional assay for the characterisation of <i>SMAD4</i> variants from the French haemorrhagic hereditary telangiectasia cohortLouane Despas, Lea Vialet, Maud Tusseau, et al.
Pageof 12

Showing results (71-80 of 114) with videos related to

Sort By:
Pageof 12
Medrxiv : the Preprint Server for Health Sciences|December 9, 2024
Adaptation of ACMG/AMP guidelines for clinical classification of <i>BMPR2</i> variants in Pulmonary Arterial Hypertension resolves variants of unclear pathogenicity in ClinVarChristina A Eichstaedt, Gabriel Maldonado-Velez, Rajiv D Machado, et al.
Cancer Research|November 19, 2004
Significant contribution of germline BRCA2 rearrangements in male breast cancer familiesIsabelle Tournier, Brigitte Bressac-de Paillerets, Hagay Sobol, et al.
Gastric Cancer : Official Journal of the International Gastric Cancer Association and the Japanese Gastric Cancer Association|December 6, 2018
Clinical implications of CTNNA1 germline mutations in asymptomatic carriersPatrick R Benusiglio, Chrystelle Colas, Erell Guillerm, et al.
The American Journal of Gastroenterology|September 2, 2008
Identification in daily practice of patients with Lynch syndrome (hereditary nonpolyposis colorectal cancer): revised Bethesda guidelines-based approach versus molecular screeningCatherine Julié, Christophe Trésallet, Antoine Brouquet, et al.
European Journal of Cancer (Oxford, England : 1990)|October 26, 2021
Standardisation of pathogenicity classification for somatic alterations in solid tumours and haematologic malignanciesFlorence Koeppel, Etienne Muller, Alexandre Harlé, et al.
The European Respiratory Journal|December 11, 2025
Pulmonary hypertension in patients with Noonan syndromeJulien Grynblat, Mathieu Farges, Pascal Magro, et al.
The European Respiratory Journal|March 21, 2024
Pulmonary vascular phenotype identified in patients with <i>GDF2</i> (<i>BMP9</i>) or <i>BMP10</i> variants: an international multicentre studyJulien Grynblat, Harm Jan Bogaard, Mélanie Eyries, et al.
Journal of Medical Genetics|May 28, 2013
CDH1 germline mutations and the hereditary diffuse gastric and lobular breast cancer syndrome: a multicentre studyPatrick R Benusiglio, David Malka, Etienne Rouleau, et al.
Frontiers in Cell and Developmental Biology|October 28, 2021
Low-Coverage Whole Genome Sequencing of Cell-Free DNA From Immunosuppressed Cancer Patients Enables Tumor Fraction Determination and Reveals Relevant Copy Number AlterationsAmira Bouzidi, Karim Labreche, Marine Baron, et al.
Journal of Medical Genetics|August 20, 2025
Development of a functional assay for the characterisation of <i>SMAD4</i> variants from the French haemorrhagic hereditary telangiectasia cohortLouane Despas, Lea Vialet, Maud Tusseau, et al.
Pageof 12