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M Delpech

Showing results (81-90 of 96) with videos related to

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Journal of Medical Genetics|August 28, 1999
Unexpected Angelman syndrome molecular defect in a girl displaying clinical features of Prader-Willi syndromeJ M Dupont, D Le Tessier, D Rabineau, 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.
Journal of Medical Genetics|May 1, 1997
Genotypic diagnosis of familial Mediterranean fever (FMF) using new microsatellite markers: example of two extensive non-Ashkenazi Jewish pedigreesM Dupont, C Dross, N Smaoui, 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.
The American Journal of Pathology|January 23, 1999
Hereditary amyloid cardiomyopathy caused by a variant apolipoprotein A1L Hamidi Asl, J J Liepnieks, K Hamidi Asl, et al.
Blood|January 7, 1998
Renal amyloidosis with a frame shift mutation in fibrinogen aalpha-chain gene producing a novel amyloid proteinL Hamidi Asl, J J Liepnieks, T Uemichi, et al.
Nature Genetics|June 16, 1999
Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome. International Hyper-IgD Study GroupJ P Drenth, L Cuisset, G Grateau, et al.
American Journal of Human Genetics|June 12, 1999
MEFV-Gene analysis in armenian patients with Familial Mediterranean fever: diagnostic value and unfavorable renal prognosis of the M694V homozygous genotype-genetic and therapeutic implicationsC Cazeneuve, T Sarkisian, C Pêcheux, et al.
American Journal of Human Genetics|September 16, 1999
Genetic linkage of the Muckle-Wells syndrome to chromosome 1q44L Cuisset, J P Drenth, J M Berthelot, et al.
Revue D'Epidemiologie Et De Sante Publique|September 26, 2003
[Proposed law on protection of personal rights concerning personal information. Position of the French National Civil Rights Commission (CCTIR)]C Bara, C Berr, J Blacher, et al.
Pageof 10

Showing results (81-90 of 96) with videos related to

Sort By:
Pageof 10
Journal of Medical Genetics|August 28, 1999
Unexpected Angelman syndrome molecular defect in a girl displaying clinical features of Prader-Willi syndromeJ M Dupont, D Le Tessier, D Rabineau, 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.
Journal of Medical Genetics|May 1, 1997
Genotypic diagnosis of familial Mediterranean fever (FMF) using new microsatellite markers: example of two extensive non-Ashkenazi Jewish pedigreesM Dupont, C Dross, N Smaoui, 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.
The American Journal of Pathology|January 23, 1999
Hereditary amyloid cardiomyopathy caused by a variant apolipoprotein A1L Hamidi Asl, J J Liepnieks, K Hamidi Asl, et al.
Blood|January 7, 1998
Renal amyloidosis with a frame shift mutation in fibrinogen aalpha-chain gene producing a novel amyloid proteinL Hamidi Asl, J J Liepnieks, T Uemichi, et al.
Nature Genetics|June 16, 1999
Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome. International Hyper-IgD Study GroupJ P Drenth, L Cuisset, G Grateau, et al.
American Journal of Human Genetics|June 12, 1999
MEFV-Gene analysis in armenian patients with Familial Mediterranean fever: diagnostic value and unfavorable renal prognosis of the M694V homozygous genotype-genetic and therapeutic implicationsC Cazeneuve, T Sarkisian, C Pêcheux, et al.
American Journal of Human Genetics|September 16, 1999
Genetic linkage of the Muckle-Wells syndrome to chromosome 1q44L Cuisset, J P Drenth, J M Berthelot, et al.
Revue D'Epidemiologie Et De Sante Publique|September 26, 2003
[Proposed law on protection of personal rights concerning personal information. Position of the French National Civil Rights Commission (CCTIR)]C Bara, C Berr, J Blacher, et al.
Pageof 10