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Prenatal Diagnosis
|
November 25, 2003
Fetal phenotype of Prader-Willi syndrome due to maternal disomy for chromosome 15
A 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 spermatogenesis
A 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 France
L Cuisset, I Jeru, B Dumont, et al.
Annales De Genetique
|
January 1, 1997
PEG1 expression in maternal uniparental disomy 7
L 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 syndromes
L 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 tool
A 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 syndromes
B 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 syndrome
L 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 formation
J 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 fever
S Georgin-Lavialle, L Savey, L Cuisset, et al.
Page
of 3
Search research articles
Search
Showing results (11-20 of 23) with videos related to
Sort By:
Page
of 3
Prenatal Diagnosis
|
November 25, 2003
Fetal phenotype of Prader-Willi syndrome due to maternal disomy for chromosome 15
A 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 spermatogenesis
A 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 France
L Cuisset, I Jeru, B Dumont, et al.
Annales De Genetique
|
January 1, 1997
PEG1 expression in maternal uniparental disomy 7
L 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 syndromes
L 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 tool
A 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 syndromes
B 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 syndrome
L 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 formation
J 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 fever
S Georgin-Lavialle, L Savey, L Cuisset, et al.
Page
of 3