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1.
Consanguinity and Inbreeding in Health and Disease in North African Populations.
Annu Rev Genomics Hum Genet
; 20: 155-179, 2019 08 31.
Artículo
en Inglés
| MEDLINE | ID: mdl-31039041
2.
Hypomyelination and Congenital Cataract: Clinical, Imaging, and Genetic Findings in Three Tunisian Families and Literature Review.
Neuropediatrics
; 52(4): 302-309, 2021 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-34192786
3.
Multiallelic rare variants support an oligogenic origin of sudden cardiac death in the young.
Herz
; 46(Suppl 1): 94-102, 2021 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-31970460
4.
The morbid cutaneous anatomy of the human genome revealed by a bioinformatic approach.
Genomics
; 112(6): 4232-4241, 2020 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-32650097
5.
Dysregulated PDGFR alpha expression and novel somatic mutations in colorectal cancer: association to RAS wild type status and tumor size.
J Transl Med
; 18(1): 440, 2020 11 19.
Artículo
en Inglés
| MEDLINE | ID: mdl-33213472
6.
High-quality genome sequence assembly of R.A73 Enterococcus faecium isolated from freshwater fish mucus.
BMC Microbiol
; 20(1): 322, 2020 10 23.
Artículo
en Inglés
| MEDLINE | ID: mdl-33096980
7.
Identification of a CDH12 potential candidate genetic variant for an autosomal dominant form of transgrediens and progrediens palmoplantar keratoderma in a Tunisian family.
J Hum Genet
; 65(4): 397-410, 2020 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-31911611
8.
Identification of novel pathogenic MSH2 mutation and new DNA repair genes variants: investigation of a Tunisian Lynch syndrome family with discordant twins.
J Transl Med
; 17(1): 212, 2019 06 27.
Artículo
en Inglés
| MEDLINE | ID: mdl-31248416
9.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-31030682
10.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-31098807
11.
Neuromuscular Involvement in Glycogen Storage Disease Type III in Fifty Tunisian Patients: Phenotype and Natural History in Young Patients.
Neuropediatrics
; 50(1): 22-30, 2019 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-30308687
12.
Mucosal human papillomavirus detection and TP53 immunohistochemical expression in non-melanoma skin cancer in Tunisian patients.
J Cutan Pathol
; 46(8): 591-598, 2019 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-30972814
13.
TOP3B: A Novel Candidate Gene in Juvenile Myoclonic Epilepsy?
Cytogenet Genome Res
; 154(1): 1-5, 2018.
Artículo
en Inglés
| MEDLINE | ID: mdl-29490292
14.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-29879995
15.
Novel ALPK3 mutation in a Tunisian patient with pediatric cardiomyopathy and facio-thoraco-skeletal features.
J Hum Genet
; 63(10): 1077-1082, 2018 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-30046096
16.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-30594178
17.
Clinical profile of comorbidity of rare diseases in a Tunisian patient: a case report associating incontinentia pigmenti and Noonan syndrome.
BMC Pediatr
; 18(1): 286, 2018 08 29.
Artículo
en Inglés
| MEDLINE | ID: mdl-30157809
18.
Mitochondrial DNA structure of an isolated Tunisian Berber population and its relationship with Mediterranean populations.
Ann Hum Biol
; 45(1): 86-97, 2018 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-29382283
19.
Genetic Analysis of TREM2 Variants in Tunisian Patients with Alzheimer's Disease.
Med Princ Pract
; 27(4): 317-322, 2018.
Artículo
en Inglés
| MEDLINE | ID: mdl-29723869
20.
Using KASP technique to screen LRRK2 G2019S mutation in a large Tunisian cohort.
BMC Med Genet
; 18(1): 70, 2017 07 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-28683740