Detalhe da pesquisa
1.
Review of Zinc Oxide Piezoelectric Nanogenerators: Piezoelectric Properties, Composite Structures and Power Output.
Sensors (Basel)
; 23(8)2023 Apr 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37112200
2.
A severe clinical phenotype of Noonan syndrome with neonatal hypertrophic cardiomyopathy in the second case worldwide with RAF1 S259Y neomutation.
Genet Res (Camb)
; 101: e6, 2019 04 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-31030682
3.
Novel MED12 variant in a multiplex Fragile X syndrome family: dual molecular etiology of two X-linked intellectual disabilities with autism in the same family.
Mol Biol Rep
; 46(4): 4185-4193, 2019 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-31098807
4.
Family specific genetic predisposition to breast cancer: results from Tunisian whole exome sequenced breast cancer cases.
J Transl Med
; 16(1): 158, 2018 06 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29879995
5.
Novel ALPK3 mutation in a Tunisian patient with pediatric cardiomyopathy and facio-thoraco-skeletal features.
J Hum Genet
; 63(10): 1077-1082, 2018 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-30046096
6.
A genome wide SNP genotyping study in the Tunisian population: specific reporting on a subset of common breast cancer risk loci.
BMC Cancer
; 18(1): 1295, 2018 Dec 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-30594178
7.
Disease burden and management of Crigler-Najjar syndrome: Report of a world registry.
Liver Int
; 42(7): 1593-1604, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35274801
8.
Distinctive findings in a boy with Simpson-Golabi-Behmel syndrome.
Am J Med Genet A
; 170A(4): 1035-9, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26692054
9.
Molecular characterization, homology modeling and docking studies of the R2787H missense variation in BRCA2 gene: Association with breast cancer.
J Theor Biol
; 403: 188-196, 2016 08 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-27211102
10.
A rare cause of hypertension in an 11-year-old boy: Questions.
Pediatr Nephrol
; 36(7): 2019-2020, 2021 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-33415480
11.
A rare cause of hypertension in an 11-year-old boy: Answers.
Pediatr Nephrol
; 36(7): 2021-2024, 2021 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-33415482
12.
Parental satisfaction of an assessment unit for autistic spectrum disorders.
Tunis Med
; 94(6): 167-172, 2016 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-28051218
13.
Comorbidity of bathing suit ichthyosis and limb-girdle muscular dystrophy type 2 A in a Tunisian patient revealed by Whole Exome Sequencing.
Gene
; 900: 148127, 2024 Mar 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-38181929
14.
Genetic testing for hereditary cancer syndromes in Tunisian patients: Impact on health system.
Transl Oncol
; 43: 101912, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38387387
15.
Current phenotypic and genetic spectrum of syndromic deafness in Tunisia: paving the way for precision auditory health.
Front Genet
; 15: 1384094, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38711914
16.
Review of Piezoelectric Properties and Power Output of PVDF and Copolymer-Based Piezoelectric Nanogenerators.
Nanomaterials (Basel)
; 13(24)2023 Dec 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-38133067
17.
Genotype-Phenotype correlation of distal renal tubular acidosis in Tunisia.
Tunis Med
; 101(8-9): 704-708, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38445406
18.
Primary hyperoxaluria type 1: Clinical, genetic, and evolutionary characteristics in Tunisian children.
Tunis Med
; 101(7): 626-630, 2023 Jul 05.
Artigo
em Francês
| MEDLINE | ID: mdl-38445424
19.
Phenotype Spectrum in Tunisian Population with NPHP1 Deletion.
Indian J Nephrol
; 33(6): 426-431, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38174310
20.
Primary Hyperoxaluria Type 1: Clinical, Paraclinical, and Evolutionary Aspects in Adults from One Nephrology Center.
Int J Nephrol
; 2023: 2874414, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37521011