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In vitro functional characterization of androgen receptor gene mutations at arginine p.856 of the ligand-binding-domain associated with androgen insensitivity syndrome

The Journal of steroid biochemistry and molecular biology, 2021-04, Vol.208, p.105834-105834, Article 105834

2021

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Genetic study of Alport syndrome in Tunisia

Pediatric nephrology (Berlin, West), 2024-08

2024

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Clinical and genetic characteristics of Tunisian children with infantile nephropathic cystinosis

Pediatric nephrology (Berlin, West), 2023, Vol.38 (1), p.119-129

2023

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Heterogeneous clinical features in Cockayne syndrome patients and siblings carrying the same CSA mutations

Orphanet journal of rare diseases, 2022-03, Vol.17 (1), p.121-121, Article 121

2022

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Novel RAB3GAP1 Mutation in the First Tunisian Family With Warburg Micro Syndrome

Journal of Clinical Neurology, 2022, 18(2), , pp.214-222

2022

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Li-Fraumeni syndrome in Tunisian carriers with different and rare tumor phenotype: genotype-phenotype correlation

BMC medical genomics, 2022-03, Vol.15 (1), p.44-44, Article 44

2022

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Identification of Novel BRCA1 and RAD50 Mutations Associated With Breast Cancer Predisposition in Tunisian Patients

Frontiers in genetics, 2020-11, Vol.11, p.552971-552971

2020

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Molecular autopsy and clinical family screening in a case of sudden cardiac death reveals ACTN2 mutation related to hypertrophic/dilated cardiomyopathy and a novel LZTR1 variant associated with Noonan syndrome

Molecular genetics & genomic medicine, 2022-07, Vol.10 (7), p.e1954-n/a

2022

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A MEMS Optical Phased Array Based on Pitch Tunable Silicon Micromirrors for LiDAR Scanners

Journal of microelectromechanical systems, 2021-10, Vol.30 (5), p.712-724

2021

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Functional Analysis of Mutations at Codon 127 of the SRY Gene Associated with 46,XY Complete Gonadal Dysgenesis

Sexual development, 2017, Vol.11 (4), p.203-209

2017

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Detection of a frequent duplicated CYP21A2 gene carrying a Q318X mutation in a general population with quantitative PCR methods

Diagnostic molecular pathology, 2011-06, Vol.20 (2), p.123-127

2011

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Review of Zinc Oxide Piezoelectric Nanogenerators: Piezoelectric Properties, Composite Structures and Power Output

Sensors (Basel, Switzerland), 2023-04, Vol.23 (8), p.3859

2023

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Analysis of Optical Diffraction Profiles Created by Phase-Modulating MEMS Micromirror Arrays

Micromachines (Basel), 2021-07, Vol.12 (8), p.891

2021

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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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Design, Modeling, and Demonstration of a MEMS Repulsive-Force Out-of-Plane Electrostatic Micro Actuator

Journal of microelectromechanical systems, 2008-06, Vol.17 (3), p.532-547

2008

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A novel vertical comb-drive electrostatic actuator using a one layer process

Journal of micromechanics and microengineering, 2014-11, Vol.24 (11), p.115016

2014

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Development of a MEMS repulsive actuator for large out-of-plane force

Journal of micromechanics and microengineering, 2014-03, Vol.24 (3), p.35022-8

2014

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Constitutional mismatch repair deficiency syndrome with atypical features caused by a homozygous MLH1 missense variant (c.1918C>A, p.(Pro640Thr)): a case report

Frontiers in oncology, 2023-08, Vol.13

2023

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Marshall syndrome: Clinical, radiological and genetical features of a Tunisian family

Tunisie Medicale, 2015-03, Vol.93 (3), p.170-174

2015

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A rare cause of hypertension in an 11-year-old boy: Answers

Pediatric nephrology (Berlin, West), 2021-07, Vol.36 (7), p.2021-2024

2021

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A rare cause of hypertension in an 11-year-old boy: Questions

Pediatric nephrology (Berlin, West), 2021-07, Vol.36 (7), p.2019-2020

2021

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Characterization of RF sputtered thin film potassium sodium niobate (KNN) with silicon and nickel electrodes

Microsystem technologies : sensors, actuators, systems integration, 2017-06, Vol.23 (6), p.1943-1948

2017

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Family specific genetic predisposition to breast cancer: results from Tunisian whole exome sequenced breast cancer cases

Journal of translational medicine, 2018-06, Vol.16 (1), p.158-13, Article 158

2018

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Thermomechanical Study and Fracture Properties of Silicon Wafer under Effect of Crystal Orientation

IOP conference series. Materials Science and Engineering, 2019-05, Vol.521 (1), p.12004

2019

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A genome wide SNP genotyping study in the Tunisian population: specific reporting on a subset of common breast cancer risk loci

BMC cancer, 2018-12, Vol.18 (1), p.1295-1295, Article 1295

2018

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In vitro functional characterization of androgen receptor gene mutations at arginine p.856 of the ligand-binding-domain associated with androgen insensitivity syndrome

Genetic study of Alport syndrome in Tunisia

Clinical and genetic characteristics of Tunisian children with infantile nephropathic cystinosis

Heterogeneous clinical features in Cockayne syndrome patients and siblings carrying the same CSA mutations

Novel RAB3GAP1 Mutation in the First Tunisian Family With Warburg Micro Syndrome

Li-Fraumeni syndrome in Tunisian carriers with different and rare tumor phenotype: genotype-phenotype correlation

Identification of Novel BRCA1 and RAD50 Mutations Associated With Breast Cancer Predisposition in Tunisian Patients

Molecular autopsy and clinical family screening in a case of sudden cardiac death reveals ACTN2 mutation related to hypertrophic/dilated cardiomyopathy and a novel LZTR1 variant associated with Noonan syndrome

A MEMS Optical Phased Array Based on Pitch Tunable Silicon Micromirrors for LiDAR Scanners

Functional Analysis of Mutations at Codon 127 of the SRY Gene Associated with 46,XY Complete Gonadal Dysgenesis

Detection of a frequent duplicated CYP21A2 gene carrying a Q318X mutation in a general population with quantitative PCR methods

Review of Zinc Oxide Piezoelectric Nanogenerators: Piezoelectric Properties, Composite Structures and Power Output

Analysis of Optical Diffraction Profiles Created by Phase-Modulating MEMS Micromirror Arrays

MEFV Mutations in Tunisian Patients Suffering from Familial Mediterranean Fever

Design, Modeling, and Demonstration of a MEMS Repulsive-Force Out-of-Plane Electrostatic Micro Actuator

A novel vertical comb-drive electrostatic actuator using a one layer process

Development of a MEMS repulsive actuator for large out-of-plane force

Constitutional mismatch repair deficiency syndrome with atypical features caused by a homozygous MLH1 missense variant (c.1918C>A, p.(Pro640Thr)): a case report

Marshall syndrome: Clinical, radiological and genetical features of a Tunisian family

A rare cause of hypertension in an 11-year-old boy: Answers

A rare cause of hypertension in an 11-year-old boy: Questions

Characterization of RF sputtered thin film potassium sodium niobate (KNN) with silicon and nickel electrodes

Family specific genetic predisposition to breast cancer: results from Tunisian whole exome sequenced breast cancer cases

Thermomechanical Study and Fracture Properties of Silicon Wafer under Effect of Crystal Orientation

A genome wide SNP genotyping study in the Tunisian population: specific reporting on a subset of common breast cancer risk loci

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