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L Cuisset

Showing results (11-20 of 23) with videos related to

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Prenatal Diagnosis|November 25, 2003
Fetal phenotype of Prader-Willi syndrome due to maternal disomy for chromosome 15A Coulomb L'Herminé, A Aboura, S Brisset, et al.
Human Molecular Genetics|August 25, 2000
Establishment of the paternal methylation imprint of the human H19 and MEST/PEG1 genes during spermatogenesisA Kerjean, J M Dupont, C Vasseur, et al.
Annals of the Rheumatic Diseases|November 27, 2010
Mutations in the autoinflammatory cryopyrin-associated periodic syndrome gene: epidemiological study and lessons from eight years of genetic analysis in FranceL Cuisset, I Jeru, B Dumont, et al.
Annales De Genetique|January 1, 1997
PEG1 expression in maternal uniparental disomy 7L Cuisset, C Le Stunff, J M Dupont, et al.
Rheumatology (Oxford, England)|January 5, 2008
New CIAS1 mutation and anakinra efficacy in overlapping of Muckle-Wells and familial cold autoinflammatory syndromesL Maksimovic, J Stirnemann, F Caux, et al.
Annals of Internal Medicine|September 1, 2001
Molecular analysis of the mevalonate kinase gene in a cohort of patients with the hyper-igd and periodic fever syndrome: its application as a diagnostic toolA Simon, L Cuisset, M F Vincent, et al.
Dermatology (Basel, Switzerland)|April 4, 2003
CIAS1 mutation in a patient with overlap between Muckle-Wells and chronic infantile neurological cutaneous and articular syndromesB Granel, N Philip, J Serratrice, et al.
European Journal of Human Genetics : EJHG|April 21, 2001
Molecular analysis of MVK mutations and enzymatic activity in hyper-IgD and periodic fever syndromeL Cuisset, J P Drenth, A Simon, et al.
American Journal of Medical Genetics. Part A|September 27, 2014
Inverted duplication with deletion: first interstitial case suggesting a novel undescribed mechanism of formationJ Milosevic, L El Khattabi, A Roubergue, et al.
La Revue De Medecine Interne|October 30, 2023
French protocol for the diagnosis and management of familial Mediterranean feverS Georgin-Lavialle, L Savey, L Cuisset, et al.
Pageof 3

Showing results (11-20 of 23) with videos related to

Sort By:
Pageof 3
Prenatal Diagnosis|November 25, 2003
Fetal phenotype of Prader-Willi syndrome due to maternal disomy for chromosome 15A Coulomb L'Herminé, A Aboura, S Brisset, et al.
Human Molecular Genetics|August 25, 2000
Establishment of the paternal methylation imprint of the human H19 and MEST/PEG1 genes during spermatogenesisA Kerjean, J M Dupont, C Vasseur, et al.
Annals of the Rheumatic Diseases|November 27, 2010
Mutations in the autoinflammatory cryopyrin-associated periodic syndrome gene: epidemiological study and lessons from eight years of genetic analysis in FranceL Cuisset, I Jeru, B Dumont, et al.
Annales De Genetique|January 1, 1997
PEG1 expression in maternal uniparental disomy 7L Cuisset, C Le Stunff, J M Dupont, et al.
Rheumatology (Oxford, England)|January 5, 2008
New CIAS1 mutation and anakinra efficacy in overlapping of Muckle-Wells and familial cold autoinflammatory syndromesL Maksimovic, J Stirnemann, F Caux, et al.
Annals of Internal Medicine|September 1, 2001
Molecular analysis of the mevalonate kinase gene in a cohort of patients with the hyper-igd and periodic fever syndrome: its application as a diagnostic toolA Simon, L Cuisset, M F Vincent, et al.
Dermatology (Basel, Switzerland)|April 4, 2003
CIAS1 mutation in a patient with overlap between Muckle-Wells and chronic infantile neurological cutaneous and articular syndromesB Granel, N Philip, J Serratrice, et al.
European Journal of Human Genetics : EJHG|April 21, 2001
Molecular analysis of MVK mutations and enzymatic activity in hyper-IgD and periodic fever syndromeL Cuisset, J P Drenth, A Simon, et al.
American Journal of Medical Genetics. Part A|September 27, 2014
Inverted duplication with deletion: first interstitial case suggesting a novel undescribed mechanism of formationJ Milosevic, L El Khattabi, A Roubergue, et al.
La Revue De Medecine Interne|October 30, 2023
French protocol for the diagnosis and management of familial Mediterranean feverS Georgin-Lavialle, L Savey, L Cuisset, et al.
Pageof 3