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Eric Pasmant

Showing results (41-50 of 124) with videos related to

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Hepatology Communications|September 22, 2023
Clinical and genetic definition of serum bilirubin levels for the diagnosis of Gilbert syndrome and hypobilirubinemiaThierry Poynard, Olivier Deckmyn, Valentina Peta, et al.
Bone Reports|June 25, 2021
Prenatal features and neonatal management of severe hyperparathyroidism caused by the heterozygous inactivating calcium-sensing receptor variant, Arg185Gln: A case report and review of the literatureMarion Aubert-Mucca, Charlotte Dubucs, Marion Groussolles, et al.
The Journal of Investigative Dermatology|May 15, 2025
Lower Prevalence of Overweight and Obesity in Adults with NeurofibromatosisLaura Mengeot, Eric Pasmant, Annick Fontbonne, et al.
Journal of Medical Genetics|December 28, 2023
Breast cancer risk in <i>NF1</i>-deleted patientsLaurence Pacot, Julien Masliah-Planchon, Adina Petcu, et al.
Journal of Medical Genetics|May 24, 2014
Mutations in SETD2 cause a novel overgrowth conditionArmelle Luscan, Ingrid Laurendeau, Valérie Malan, et al.
Human Molecular Genetics|May 7, 2009
Unravelling the genetic basis of variable clinical expression in neurofibromatosis 1Audrey Sabbagh, Eric Pasmant, Ingrid Laurendeau, et al.
Oncotarget|February 4, 2016
Dual mTORC1/2 inhibition induces anti-proliferative effect in NF1-associated plexiform neurofibroma and malignant peripheral nerve sheath tumor cellsJennifer Varin, Laury Poulain, Mikael Hivelin, et al.
Human Pathology|July 31, 2014
Immunohistochemistry versus next-generation sequencing for the routine detection of BRAF V600E mutation in melanomasPierre-Alexandre Just, Anne Audebourg, Eric Pasmant, et al.
Journal of the American Academy of Dermatology|February 20, 2016
High specificity and sensitivity of NRAS Q61R immunohistochemistry (IHC) in melanomasPierre-Alexandre Just, Christelle Pouliquen, Anne Audebourg, et al.
European Journal of Human Genetics : EJHG|July 31, 2014
Neurofibromatosis type 1 molecular diagnosis: what can NGS do for you when you have a large gene with loss of function mutations?Eric Pasmant, Béatrice Parfait, Armelle Luscan, et al.
Pageof 13

Showing results (41-50 of 124) with videos related to

Sort By:
Pageof 13
Hepatology Communications|September 22, 2023
Clinical and genetic definition of serum bilirubin levels for the diagnosis of Gilbert syndrome and hypobilirubinemiaThierry Poynard, Olivier Deckmyn, Valentina Peta, et al.
Bone Reports|June 25, 2021
Prenatal features and neonatal management of severe hyperparathyroidism caused by the heterozygous inactivating calcium-sensing receptor variant, Arg185Gln: A case report and review of the literatureMarion Aubert-Mucca, Charlotte Dubucs, Marion Groussolles, et al.
The Journal of Investigative Dermatology|May 15, 2025
Lower Prevalence of Overweight and Obesity in Adults with NeurofibromatosisLaura Mengeot, Eric Pasmant, Annick Fontbonne, et al.
Journal of Medical Genetics|December 28, 2023
Breast cancer risk in <i>NF1</i>-deleted patientsLaurence Pacot, Julien Masliah-Planchon, Adina Petcu, et al.
Journal of Medical Genetics|May 24, 2014
Mutations in SETD2 cause a novel overgrowth conditionArmelle Luscan, Ingrid Laurendeau, Valérie Malan, et al.
Human Molecular Genetics|May 7, 2009
Unravelling the genetic basis of variable clinical expression in neurofibromatosis 1Audrey Sabbagh, Eric Pasmant, Ingrid Laurendeau, et al.
Oncotarget|February 4, 2016
Dual mTORC1/2 inhibition induces anti-proliferative effect in NF1-associated plexiform neurofibroma and malignant peripheral nerve sheath tumor cellsJennifer Varin, Laury Poulain, Mikael Hivelin, et al.
Human Pathology|July 31, 2014
Immunohistochemistry versus next-generation sequencing for the routine detection of BRAF V600E mutation in melanomasPierre-Alexandre Just, Anne Audebourg, Eric Pasmant, et al.
Journal of the American Academy of Dermatology|February 20, 2016
High specificity and sensitivity of NRAS Q61R immunohistochemistry (IHC) in melanomasPierre-Alexandre Just, Christelle Pouliquen, Anne Audebourg, et al.
European Journal of Human Genetics : EJHG|July 31, 2014
Neurofibromatosis type 1 molecular diagnosis: what can NGS do for you when you have a large gene with loss of function mutations?Eric Pasmant, Béatrice Parfait, Armelle Luscan, et al.
Pageof 13