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Diagnostic moléculaire de la maladie de Gaucher en Tunisie

Pathologie biologie (Paris), 2013-04, Vol.61 (2), p.59-63

2013

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Genetic and mutational heterogeneity of autosomal recessive chronic granulomatous disease in Tunisia

Journal of human genetics, 2006-10, Vol.51 (10), p.887-895

2006

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Contribution of M470V variant to cystic fibrosis: First study in CF and normal Tunisian population

Pathologie biologie (Paris), 2015-09, Vol.63 (4-5), p.169-174

2015

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Phenylketonuria in Tunisian institutions for the mentally handicapped

Archives of disease in childhood, 2009-08, Vol.94 (8), p.647-648

2009

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Phenotypic spectrum of fucosidosis in Tunisia

Journal of inherited metabolic disease, 2008-12, Vol.31 (Suppl 2), p.313-316

2008

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A novel UBE3A truncating mutation in large Tunisian Angelman syndrome pedigree

American journal of medical genetics. Part A, 2010-01, Vol.152A (1), p.141-146

2010

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Phenotypic continuum of type 2 Gaucher's disease: an intermediate phenotype between perinatal-lethal and classic type 2 Gaucher's disease

Journal of Perinatology, 2009-02, Vol.29 (2), p.170-172

2009

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Glycogen storage disease type I in Tunisia: An epidemiological analysis

Journal of inherited metabolic disease, 2008-12, Vol.31 (Suppl 2), p.199-204

2008

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Molecular diagnosis of Gaucher disease in Tunisia

Pathologie biologie (Paris), 2013-04, Vol.61 (2), p.59-63

2013

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Clinical and mutational investigations of tyrosinemia type II in Northern Tunisia: Identification and structural characterization of two novel TAT mutations

Molecular genetics and metabolism, 2006-06, Vol.88 (2), p.184-191

2006

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Congenital generalized lipodystrophy: a case report with neurological involvement

Archives de pédiatrie : organe officiel de la Société française de pédiatrie, 2009-01, Vol.16 (1), p.27-31

2009

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Hepatomegaly and early cytolysis as presenting symptoms in CDG syndrome type Ia

Tunisie Medicale, 2008-02, Vol.86 (2), p.204

2008

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Atypical presentation of Wegener disease in childhood

Journal des maladies vasculaires, 2008-12, Vol.33 (4-5), p.242-246

2008

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Gaucher's disease in Tunisia (multicenter study)

La revue de medecine interne, 2004-02, Vol.25 (2), p.104-110

2004

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Pompe's disease: a report of 3 cases (clinical, biochemical, anatomo-pathological study

Tunisie Medicale, 1990-06, Vol.68 (6-7), p.463

1990

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Severe hyperglycemia in acute dehydration caused by gastroenteritis

Tunisie Medicale, 1989-01, Vol.67 (1), p.23

1989

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Recurrent multifocal periostitis in children

Tunisie Medicale, 1988-12, Vol.66 (12), p.867

1988

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Mutation spectrum of Gaucher disease in Tunisia: high frequency of N370S/Rec NciI compound heterozygous

Archives de l'Institut Pasteur de Tunis, 2007, Vol.84 (1-4), p.65

2007

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Reference values of urinary orotic acid in a healthy Tunisian population

Archives de pédiatrie : organe officiel de la Société française de pédiatrie, 1998-01, Vol.5 (1), p.15-18

1998

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Liver transplantation in children: its place in the treatment of atresia of the extrahepatic bile ducts, its indications and results

Tunisie Medicale, 1989-12, Vol.67 (12), p.809

1989

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Interleukin 17 acts in synergy with B cell-activating factor to influence B cell biology and the pathophysiology of systemic lupus erythematosus

Nature immunology, 2009-07, Vol.10 (7), p.778-785

2009

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Systemic lupus erythematosus-associated acute transverse myelitis: manifestations, treatments, outcomes, and prognostic factors in 20 patients

Lupus, 2015-01, Vol.24 (1), p.74-81

2015

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Gene expression profiling in peripheral blood cells of patients with rheumatoid arthritis in response to anti-TNF-alpha treatments

Physiological genomics, 2011-04, Vol.43 (7), p.365-371

2011

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Peripheral blood lymphocytes from patients with rheumatoid arthritis are differentially sensitive to apoptosis induced by anti-tumour necrosis factor-alpha therapy

Clinical and experimental rheumatology, 2008-03, Vol.26 (2), p.234

2008

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Cardiac metastasis of a femoral osteosarcoma

Tunisie Medicale, 2010-11, Vol.88 (11), p.860

2010

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Diagnostic moléculaire de la maladie de Gaucher en Tunisie

Genetic and mutational heterogeneity of autosomal recessive chronic granulomatous disease in Tunisia

Contribution of M470V variant to cystic fibrosis: First study in CF and normal Tunisian population

Phenylketonuria in Tunisian institutions for the mentally handicapped

Phenotypic spectrum of fucosidosis in Tunisia

A novel UBE3A truncating mutation in large Tunisian Angelman syndrome pedigree

Phenotypic continuum of type 2 Gaucher's disease: an intermediate phenotype between perinatal-lethal and classic type 2 Gaucher's disease

Glycogen storage disease type I in Tunisia: An epidemiological analysis

Molecular diagnosis of Gaucher disease in Tunisia

Clinical and mutational investigations of tyrosinemia type II in Northern Tunisia: Identification and structural characterization of two novel TAT mutations

Congenital generalized lipodystrophy: a case report with neurological involvement

Hepatomegaly and early cytolysis as presenting symptoms in CDG syndrome type Ia

Atypical presentation of Wegener disease in childhood

Gaucher's disease in Tunisia (multicenter study)

Pompe's disease: a report of 3 cases (clinical, biochemical, anatomo-pathological study

Severe hyperglycemia in acute dehydration caused by gastroenteritis

Recurrent multifocal periostitis in children

Mutation spectrum of Gaucher disease in Tunisia: high frequency of N370S/Rec NciI compound heterozygous

Reference values of urinary orotic acid in a healthy Tunisian population

Liver transplantation in children: its place in the treatment of atresia of the extrahepatic bile ducts, its indications and results

Interleukin 17 acts in synergy with B cell-activating factor to influence B cell biology and the pathophysiology of systemic lupus erythematosus

Systemic lupus erythematosus-associated acute transverse myelitis: manifestations, treatments, outcomes, and prognostic factors in 20 patients

Gene expression profiling in peripheral blood cells of patients with rheumatoid arthritis in response to anti-TNF-alpha treatments

Peripheral blood lymphocytes from patients with rheumatoid arthritis are differentially sensitive to apoptosis induced by anti-tumour necrosis factor-alpha therapy

Cardiac metastasis of a femoral osteosarcoma

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