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The International Journal of Cardiovascular Imaging
|
May 10, 2020
Characterization of Fabry Disease cardiac involvement according to longitudinal strain, cardiometabolic exercise test, and T1 mapping
Patricia Réant, Emilie Testet, Amélie Reynaud, et al.
Scientific Reports
|
May 3, 2019
Characterization of XPR1/SLC53A1 variants located outside of the SPX domain in patients with primary familial brain calcification
Uriel López-Sánchez, Gaël Nicolas, Anne-Claire Richard, et al.
The Journal of Investigative Dermatology
|
October 19, 2007
Detection of an intragenic deletion expands the spectrum of CTSC mutations in Papillon-Lefèvre syndrome
Thomas Jouary, Cyril Goizet, Isabelle Coupry, et al.
American Journal of Medical Genetics. Part A
|
February 5, 2008
Perrault syndrome: report of four new cases, review and exclusion of candidate genes
Sandrine Marlin, Didier Lacombe, Laurence Jonard, et al.
Journal of the Neurological Sciences
|
December 19, 2017
History and current difficulties in classifying inherited myopathies and muscular dystrophies
Stéphane Mathis, Meriem Tazir, Laurent Magy, et al.
Molecular Genetics and Metabolism
|
June 25, 2016
Diagnostic tests for Niemann-Pick disease type C (NP-C): A critical review
Marie T Vanier, Paul Gissen, Peter Bauer, et al.
Arteriosclerosis, Thrombosis, and Vascular Biology
|
November 3, 2012
Heterogeneity of platelet functional alterations in patients with filamin A mutations
Eliane Berrou, Frédéric Adam, Marilyne Lebret, et al.
American Journal of Medical Genetics. Part A
|
March 24, 2019
PADDAS syndrome associated with hair dysplasia caused by a de novo missense variant of PUM1
Paul Bonnemason-Carrere, Fanny Morice-Picard, Perrine Pennamen, et al.
Annals of Neurology
|
August 19, 2007
COL4A1 mutation in Axenfeld-Rieger anomaly with leukoencephalopathy and stroke
Igor Sibon, Isabelle Coupry, Patrice Menegon, et al.
Antioxidants & Redox Signaling
|
February 29, 2012
Adaptative capacity of mitochondrial biogenesis and of mitochondrial dynamics in response to pathogenic respiratory chain dysfunction
Giovanni Benard, Thomas Trian, Nadège Bellance, et al.
Page
of 18
Search research articles
Search
Showing results (41-50 of 173) with videos related to
Sort By:
Page
of 18
The International Journal of Cardiovascular Imaging
|
May 10, 2020
Characterization of Fabry Disease cardiac involvement according to longitudinal strain, cardiometabolic exercise test, and T1 mapping
Patricia Réant, Emilie Testet, Amélie Reynaud, et al.
Scientific Reports
|
May 3, 2019
Characterization of XPR1/SLC53A1 variants located outside of the SPX domain in patients with primary familial brain calcification
Uriel López-Sánchez, Gaël Nicolas, Anne-Claire Richard, et al.
The Journal of Investigative Dermatology
|
October 19, 2007
Detection of an intragenic deletion expands the spectrum of CTSC mutations in Papillon-Lefèvre syndrome
Thomas Jouary, Cyril Goizet, Isabelle Coupry, et al.
American Journal of Medical Genetics. Part A
|
February 5, 2008
Perrault syndrome: report of four new cases, review and exclusion of candidate genes
Sandrine Marlin, Didier Lacombe, Laurence Jonard, et al.
Journal of the Neurological Sciences
|
December 19, 2017
History and current difficulties in classifying inherited myopathies and muscular dystrophies
Stéphane Mathis, Meriem Tazir, Laurent Magy, et al.
Molecular Genetics and Metabolism
|
June 25, 2016
Diagnostic tests for Niemann-Pick disease type C (NP-C): A critical review
Marie T Vanier, Paul Gissen, Peter Bauer, et al.
Arteriosclerosis, Thrombosis, and Vascular Biology
|
November 3, 2012
Heterogeneity of platelet functional alterations in patients with filamin A mutations
Eliane Berrou, Frédéric Adam, Marilyne Lebret, et al.
American Journal of Medical Genetics. Part A
|
March 24, 2019
PADDAS syndrome associated with hair dysplasia caused by a de novo missense variant of PUM1
Paul Bonnemason-Carrere, Fanny Morice-Picard, Perrine Pennamen, et al.
Annals of Neurology
|
August 19, 2007
COL4A1 mutation in Axenfeld-Rieger anomaly with leukoencephalopathy and stroke
Igor Sibon, Isabelle Coupry, Patrice Menegon, et al.
Antioxidants & Redox Signaling
|
February 29, 2012
Adaptative capacity of mitochondrial biogenesis and of mitochondrial dynamics in response to pathogenic respiratory chain dysfunction
Giovanni Benard, Thomas Trian, Nadège Bellance, et al.
Page
of 18