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Skeletal phenotype/genotype in progressive pseudorheumatoid chondrodysplasia

Clinical rheumatology, 2020-02, Vol.39 (2), p.553-560

2020

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The phenotypic spectrum in a patient with Glycine to Serine mutation in the COL2A1 gene: overview study

AIMS molecular science, 2021-03, Vol.8 (1), p.76-85

2021

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Mucopolysaccharidosis type VII as a cause of recurrent Non-Immune Hydrops Fetalis: The first Tunisian case confirmed by Next-Generation Sequencing

Clinica chimica acta, 2021-02, Vol.513, p.68-70

2021

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Mosaic parental germline mutations causing recurrent forms of malformations of cortical development

European journal of human genetics : EJHG, 2016-04, Vol.24 (4), p.611-614

2016

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De novo balanced translocation t (7;16) (p22.1; p11.2) associated with autistic disorder

BioMed research international, 2008-01, Vol.2008 (1), p.231904

2008

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The first missense mutation of NHS gene in a Tunisian family with clinical features of NHS syndrome including cardiac anomaly

European journal of human genetics : EJHG, 2011-08, Vol.19 (8), p.851-856

2011

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Arg924X homozygous mutation in insulin receptor gene in a Tunisian patient with Donohue syndrome

Journal of pediatric endocrinology & metabolism : JPEM, 2016-06, Vol.29 (6), p.753

2016

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A novel splice mutation in PAK3 gene underlying mental retardation with neuropsychiatric features

European journal of human genetics : EJHG, 2008-11, Vol.16 (11), p.1358-1363

2008

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Founder effect confirmation of c.241A>G mutation in the L2HGDH gene and characterization of oxidative stress parameters in six Tunisian families with L-2-hydroxyglutaric aciduria

Journal of human genetics, 2014-04, Vol.59 (4), p.216-222

2014

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Molecular Genetic Analysis of Tunisian Patients with a Classic Form of 21-Hydroxylase Deficiency: Identification of Four Novel Mutations and High Prevalence of Q318X Mutation

The journal of clinical endocrinology and metabolism, 2004-01, Vol.89 (1), p.368-374

2004

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X linked mental retardation

Tunisie Medicale, 2009-05, Vol.87 (5), p.311-318

2009

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MEFV Mutations in Tunisian Patients Suffering from Familial Mediterranean Fever

Seminars in arthritis and rheumatism, 2007-06, Vol.36 (6), p.397-401

2007

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Performance limitations in the robust servomechanism problem for discrete time periodic systems

Automatica (Oxford), 2003-06, Vol.39 (6), p.1053-1059

2003

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MLPA Subtelomere Analysis in Tunisian Mentally Retarded Patients

Biochemical genetics, 2009-10, Vol.47 (9-10), p.727-733

2009

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Limiting performance of optimal linear discrete filters

Automatica (Oxford), 2003-07, Vol.39 (7), p.1221-1226

2003

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A 24-Mb deletion in 14q in a girl with corpus callosum hypoplasia

European journal of medical genetics, 2009-07, Vol.52 (4), p.256-259

2009

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Absent meibomian glands and cone dystrophy in ADULT syndrome: identification by whole exome sequencing of pathogenic variants in two causal genes TP63 and CNGB3

Ophthalmic genetics, 2024-02, Vol.45 (1), p.84-94

2024

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A novel WFS1 variant associated with severe diabetic retinopathy in Wolfram syndrome type 1

Ophthalmic genetics, 2023-06, Vol.44 (3), p.304-312

2023

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Molecular analysis of the SMN1 and NAIP genes in 60 Tunisian spinal muscular atrophy patients

Tunisie Medicale, 2006-08, Vol.84 (8), p.465

2006

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The Creatine Transporter Gene Paralogous at 16p11.2 Is Expressed in Human Brain

Comparative and functional genomics, 2008-01, Vol.2008, p.609684-5

2008

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Molecular confirmation of founder mutation c.-167A>G in Tunisian patients with PMLD disease

Gene, 2013-01, Vol.513 (2), p.233-238

2013

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A novel frame shift mutation in the PQBP1 gene identified in a Tunisian family with X-linked mental retardation

European journal of medical genetics, 2011-05, Vol.54 (3), p.241-246

2011

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Hexasomy of the Prader–Willi/Angelman critical region, including the OCA2 gene, in a patient with pigmentary dysplasia: Case report

European journal of medical genetics, 2011-07, Vol.54 (4), p.e446-e450

2011

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Performance limitations in the robust servomechanism problem for discrete-time LTI systems

IEEE transactions on automatic control, 2003-08, Vol.48 (8), p.1299-1311

2003

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IEEE_Xplore

Genetics of uro-genital cancer: prostate and ovary

Tunisie Medicale, 2005-12, Vol.83 Suppl 12, p.20

Lamia, Ben Jemaa Khemakhem

2005

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Skeletal phenotype/genotype in progressive pseudorheumatoid chondrodysplasia

The phenotypic spectrum in a patient with Glycine to Serine mutation in the COL2A1 gene: overview study

Mucopolysaccharidosis type VII as a cause of recurrent Non-Immune Hydrops Fetalis: The first Tunisian case confirmed by Next-Generation Sequencing

Mosaic parental germline mutations causing recurrent forms of malformations of cortical development

De novo balanced translocation t (7;16) (p22.1; p11.2) associated with autistic disorder

The first missense mutation of NHS gene in a Tunisian family with clinical features of NHS syndrome including cardiac anomaly

Arg924X homozygous mutation in insulin receptor gene in a Tunisian patient with Donohue syndrome

A novel splice mutation in PAK3 gene underlying mental retardation with neuropsychiatric features

Founder effect confirmation of c.241A>G mutation in the L2HGDH gene and characterization of oxidative stress parameters in six Tunisian families with L-2-hydroxyglutaric aciduria

Molecular Genetic Analysis of Tunisian Patients with a Classic Form of 21-Hydroxylase Deficiency: Identification of Four Novel Mutations and High Prevalence of Q318X Mutation

X linked mental retardation

MEFV Mutations in Tunisian Patients Suffering from Familial Mediterranean Fever

Performance limitations in the robust servomechanism problem for discrete time periodic systems

MLPA Subtelomere Analysis in Tunisian Mentally Retarded Patients

Limiting performance of optimal linear discrete filters

A 24-Mb deletion in 14q in a girl with corpus callosum hypoplasia

Absent meibomian glands and cone dystrophy in ADULT syndrome: identification by whole exome sequencing of pathogenic variants in two causal genes TP63 and CNGB3

A novel WFS1 variant associated with severe diabetic retinopathy in Wolfram syndrome type 1

Molecular analysis of the SMN1 and NAIP genes in 60 Tunisian spinal muscular atrophy patients

The Creatine Transporter Gene Paralogous at 16p11.2 Is Expressed in Human Brain

Molecular confirmation of founder mutation c.-167A>G in Tunisian patients with PMLD disease

A novel frame shift mutation in the PQBP1 gene identified in a Tunisian family with X-linked mental retardation

Hexasomy of the Prader–Willi/Angelman critical region, including the OCA2 gene, in a patient with pigmentary dysplasia: Case report

Performance limitations in the robust servomechanism problem for discrete-time LTI systems

Genetics of uro-genital cancer: prostate and ovary

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