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ENPP1 Mutation Causes Recessive Cole Disease by Altering Melanogenesis

Journal of investigative dermatology, 2018-02, Vol.138 (2), p.291-300

2018

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Multiple Self-Healing Palmoplantar Carcinoma: A Familial Predisposition to Skin Cancer with Primary Palmoplantar and Conjunctival Lesions

Journal of investigative dermatology, 2015-01, Vol.135 (1), p.304-308

2015

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Molecular and biochemical characterization of Tunisian patients with glycogen storage disease type III

Journal of human genetics, 2012-03, Vol.57 (3), p.170-175

2012

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Two novel CYP11B1 mutations in congenital adrenal hyperplasia due to steroid 11β hydroxylase deficiency in a Tunisian family

General and comparative endocrinology, 2012-02, Vol.175 (3), p.514-518

2012

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Correlation of SMN2, NAIP, p44, H4F5 and Occludin genes copy number with spinal muscular atrophy phenotype in Tunisian patients

European journal of paediatric neurology, 2012-03, Vol.16 (2), p.167-174

2012

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P189: Identifying PTPN14-Dependent Mechanisms That Influence Clinical Manifestations of Hereditary Hemorrhagic Telangiectasia

Artery research, 2017-12, Vol.20 (1), p.108-108

Mamai, Ons

2017

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Frequency of HNF4A-P.I463V Variant in the Tunisian North-African Population and Its Relation with Diabetes Mellitus

Iranian journal of public health, 2015-03, Vol.44 (3), p.396-403

2015

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Enhanced TGF-β Signaling Contributes to the Insulin-Induced Angiogenic Responses of Endothelial Cells

iScience, 2019-01, Vol.11, p.474-491

2019

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Macrozoospermia: screening for the homozygous c.144delC mutation in AURKC gene in infertile men and estimation of its heterozygosity frequency in the Tunisian population

Journal of assisted reproduction and genetics, 2015-11, Vol.32 (11), p.1651-1658

2015

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Identifying PTPN14-dependent mechanisms that influence clinical manifestations of Hereditary Hemorrhagic Telangiectasia

Artery research, 2017-12, Vol.20, p.108-108

Mamai, Ons

2017

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Genetic study in a tunisian family revealed IVS1+1G>A mutation in the CHM gene

Annales de biologie clinique (Paris), 2015-07, Vol.73 (4), p.469-473

2015

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TGFβ: Signaling Blockade for Cancer Immunotherapy

Annual review of cancer biology, 2022-01, Vol.6 (1), p.123-146

2022

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From prevention to cure, repurposing anti-viral vaccines for cancer immunotherapy

Biotarget, 2018-12, Vol.2, p.20-20

2018

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Correlation of SMN 2, NAIP , p44 , H4F5 and Occludin genes copy number with spinal muscular atrophy phenotype in Tunisian patients

European journal of paediatric neurology, 2011, Vol.16 (2), p.167-174

2011

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Mutations in the AAGAB gene, encoding alpha- and gamma-adaptin binding protein p34, cause punctate palmoplantar keratoderma type 1

Journal of dermatological science, 2013-02, Vol.69 (2), p.e53-e53

2013

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Germline NLRP1 Mutations Cause Skin Inflammatory and Cancer Susceptibility Syndromes via Inflammasome Activation

ENPP1 Mutation Causes Recessive Cole Disease by Altering Melanogenesis

Multiple Self-Healing Palmoplantar Carcinoma: A Familial Predisposition to Skin Cancer with Primary Palmoplantar and Conjunctival Lesions

Molecular and biochemical characterization of Tunisian patients with glycogen storage disease type III

Two novel CYP11B1 mutations in congenital adrenal hyperplasia due to steroid 11β hydroxylase deficiency in a Tunisian family

Correlation of SMN2, NAIP, p44, H4F5 and Occludin genes copy number with spinal muscular atrophy phenotype in Tunisian patients

P189: Identifying PTPN14-Dependent Mechanisms That Influence Clinical Manifestations of Hereditary Hemorrhagic Telangiectasia

Frequency of HNF4A-P.I463V Variant in the Tunisian North-African Population and Its Relation with Diabetes Mellitus

Enhanced TGF-β Signaling Contributes to the Insulin-Induced Angiogenic Responses of Endothelial Cells

Macrozoospermia: screening for the homozygous c.144delC mutation in AURKC gene in infertile men and estimation of its heterozygosity frequency in the Tunisian population

Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma

Identifying PTPN14-dependent mechanisms that influence clinical manifestations of Hereditary Hemorrhagic Telangiectasia

Genetic study in a tunisian family revealed IVS1+1G>A mutation in the CHM gene

TGFβ: Signaling Blockade for Cancer Immunotherapy

From prevention to cure, repurposing anti-viral vaccines for cancer immunotherapy

Correlation of SMN 2, NAIP , p44 , H4F5 and Occludin genes copy number with spinal muscular atrophy phenotype in Tunisian patients

Mutations in the AAGAB gene, encoding alpha- and gamma-adaptin binding protein p34, cause punctate palmoplantar keratoderma type 1

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