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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 ClinVar
Christina 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 families
Isabelle 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 carriers
Patrick 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 screening
Catherine 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 malignancies
Florence Koeppel, Etienne Muller, Alexandre Harlé, et al.
The European Respiratory Journal
|
December 11, 2025
Pulmonary hypertension in patients with Noonan syndrome
Julien 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 study
Julien 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 study
Patrick 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 Alterations
Amira 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 cohort
Louane Despas, Lea Vialet, Maud Tusseau, et al.
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Search research articles
Search
Showing results (71-80 of 114) with videos related to
Sort By:
Page
of 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 ClinVar
Christina 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 families
Isabelle 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 carriers
Patrick 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 screening
Catherine 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 malignancies
Florence Koeppel, Etienne Muller, Alexandre Harlé, et al.
The European Respiratory Journal
|
December 11, 2025
Pulmonary hypertension in patients with Noonan syndrome
Julien 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 study
Julien 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 study
Patrick 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 Alterations
Amira 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 cohort
Louane Despas, Lea Vialet, Maud Tusseau, et al.
Page
of 12