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The European Respiratory Journal
|
November 7, 2024
Pulmonary hypertension in patients carrying <i>FLNA</i> loss-of-function variants
Laura Stourm, Julien Grynblat, Laurent Savale, et al.
Neuropathology and Applied Neurobiology
|
September 30, 2025
A Specific Methylation Class Identifies BAP1-Deficient Meningiomas, Including Meningeal Tumours With Poorly Differentiated Nonrhabdoid Histology
Philippe Drabent, Mehdi Touat, Patrick R Benusiglio, et al.
Nature Communications
|
September 7, 2017
Identifying DNase I hypersensitive sites as driver distal regulatory elements in breast cancer
Matteo D Antonio, Donate Weghorn, Agnieszka D Antonio-Chronowska, et al.
Gut
|
October 16, 2010
Methylation tolerance due to an O6-methylguanine DNA methyltransferase (MGMT) field defect in the colonic mucosa: an initiating step in the development of mismatch repair-deficient colorectal cancers
Magali Svrcek, Olivier Buhard, Chrystelle Colas, et al.
Circulation. Genomic and Precision Medicine
|
June 9, 2026
Functional and Molecular Characterization of Novel <i>GDF2 (BMP9</i>) and <i>BMP10</i> Variants From the French PAH and HHT Cohorts
Agnès Desroches-Castan, Léa Beurier-Soulat, Maud Tusseau, et al.
Human Mutation
|
July 15, 2025
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.
The European Respiratory Journal
|
December 23, 2018
Widening the landscape of heritable pulmonary hypertension mutations in paediatric and adult cases
Mélanie Eyries, David Montani, Sophie Nadaud, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
January 17, 2007
Genotype-phenotype correlations in hereditary hemorrhagic telangiectasia: data from the French-Italian HHT network
Gaëtan Lesca, Carla Olivieri, Nelly Burnichon, et al.
Stem Cell Reports
|
November 1, 2019
Association of Human iPSC Gene Signatures and X Chromosome Dosage with Two Distinct Cardiac Differentiation Trajectories
Agnieszka D'Antonio-Chronowska, Margaret K R Donovan, William W Young Greenwald, et al.
Clinical Genetics
|
August 22, 2019
Familial pancreatic adenocarcinoma: A retrospective analysis of germline genetic testing in a French multicentre cohort
Mathias Schwartz, Clement Korenbaum, Meriem Benfoda, et al.
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Search research articles
Search
Showing results (61-70 of 114) with videos related to
Sort By:
Page
of 12
The European Respiratory Journal
|
November 7, 2024
Pulmonary hypertension in patients carrying <i>FLNA</i> loss-of-function variants
Laura Stourm, Julien Grynblat, Laurent Savale, et al.
Neuropathology and Applied Neurobiology
|
September 30, 2025
A Specific Methylation Class Identifies BAP1-Deficient Meningiomas, Including Meningeal Tumours With Poorly Differentiated Nonrhabdoid Histology
Philippe Drabent, Mehdi Touat, Patrick R Benusiglio, et al.
Nature Communications
|
September 7, 2017
Identifying DNase I hypersensitive sites as driver distal regulatory elements in breast cancer
Matteo D Antonio, Donate Weghorn, Agnieszka D Antonio-Chronowska, et al.
Gut
|
October 16, 2010
Methylation tolerance due to an O6-methylguanine DNA methyltransferase (MGMT) field defect in the colonic mucosa: an initiating step in the development of mismatch repair-deficient colorectal cancers
Magali Svrcek, Olivier Buhard, Chrystelle Colas, et al.
Circulation. Genomic and Precision Medicine
|
June 9, 2026
Functional and Molecular Characterization of Novel <i>GDF2 (BMP9</i>) and <i>BMP10</i> Variants From the French PAH and HHT Cohorts
Agnès Desroches-Castan, Léa Beurier-Soulat, Maud Tusseau, et al.
Human Mutation
|
July 15, 2025
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.
The European Respiratory Journal
|
December 23, 2018
Widening the landscape of heritable pulmonary hypertension mutations in paediatric and adult cases
Mélanie Eyries, David Montani, Sophie Nadaud, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
January 17, 2007
Genotype-phenotype correlations in hereditary hemorrhagic telangiectasia: data from the French-Italian HHT network
Gaëtan Lesca, Carla Olivieri, Nelly Burnichon, et al.
Stem Cell Reports
|
November 1, 2019
Association of Human iPSC Gene Signatures and X Chromosome Dosage with Two Distinct Cardiac Differentiation Trajectories
Agnieszka D'Antonio-Chronowska, Margaret K R Donovan, William W Young Greenwald, et al.
Clinical Genetics
|
August 22, 2019
Familial pancreatic adenocarcinoma: A retrospective analysis of germline genetic testing in a French multicentre cohort
Mathias Schwartz, Clement Korenbaum, Meriem Benfoda, et al.
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of 12