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1 . Academic Journal
Identification of a Novel Mutation of LAMB3 Gene in a Lybian Patient with Hereditary Epidermolysis Bullosa by Whole Exome Sequencing
저자
by
Laroussi, Nadia
;
Messaoud, Olfa
;
Chargui, Mariem
;
Ben Fayala, Chaima
;
Elahlafi, Abdelaziz
, et al.
소스
Annals of Dermatology
. 29(2):243-246
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7 . Academic Journal
Genetic testing for hereditary cancer syndromes in Tunisian patients: Impact on health system
저자
by
Jandoubi, Nouha
;
Boujemaa, Maroua
;
Mighri, Najah
;
Mejri, Nesrine
;
Ben Nasr, Sonia
, et al.
소스
In
Translational Oncology
May 2024 43
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7 . Academic Journal
A regionally based precision medicine implementation initiative in North Africa:The PerMediNA consortium
저자
by
benider, Abdellatif
;
El-hamouchi, Adil
;
Sonia, AIT YOUNES
;
Kahla, Alia Ben
;
Abdelmalik, AMIMER
, et al.
소스
In
Translational Oncology
June 2024 44
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7 . Academic Journal
Comorbidity of bathing suit ichthyosis and limb-girdle muscular dystrophy type 2 A in a Tunisian patient revealed by Whole Exome Sequencing
저자
by
Mezzi, Nessrine
;
Zaouak, Anissa
;
Mkaouar, Rahma
;
Kacem, Imen
;
Gouider, Riadh
, et al.
소스
In
Gene
30 March 2024 900
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7 . Academic Journal
Whole Exome Sequencing allows the identification of two novel groups of Xeroderma pigmentosum in Tunisia, XP-D and XP-E: Impact on molecular diagnosis
저자
by
Ben Rekaya, Mariem
;
Naouali, Chokri
;
Messaoud, Olfa
;
Jones, Meriem
;
Bouyacoub, Yosra
, et al.
소스
In
Journal of Dermatological Science
February 2018 89(2):172-180
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7 . Academic Journal
Distal renal tubular acidosis in a Libyan patient: Evidence for digenic inheritance
저자
by
Nagara, Majdi
;
Papagregoriou, Gregory
;
Ben Abdallah, Rim
;
Landoulsi, Zied
;
Bouyacoub, Yosra
, et al.
소스
In
European Journal of Medical Genetics
January 2018 61(1):1-7
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7 . Academic Journal
Association study of HNF1A polymorphisms with metabolic syndrome in the Moroccan population
저자
by
Morjane, Imane
;
Kefi, Rym
;
Charoute, Hicham
;
Lakbakbi el Yaagoubi, Fouzia
;
Hechmi, Meryem
, et al.
소스
In
Diabetes & Metabolic Syndrome: Clinical Research & Reviews
December 2017 11 Supplement 2:S853-S857
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7 . Academic Journal
Association of apolipoprotein A5 gene variants with metabolic syndrome in Tunisian population
저자
by
Kefi, Rym
;
Hechmi, Meriem
;
Dallali, Hamza
;
Elouej, Sahar
;
Jmel, Haifa
, et al.
소스
In
Annales d'Endocrinologie
July 2017 78(3):146-155
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7 . Academic Journal
Ethnic and functional differentiation of copy number polymorphisms in Tunisian and HapMap population unveils insights on genome organizational plasticity.
저자
by
Romdhane, Lilia
;
Kefi, Sameh
;
Mezzi, Nessrine
;
Abassi, Najla
;
Jmel, Haifa
, et al.
소스
Scientific Reports
. 2/26/2024, Vol. 14 Issue 1, p1-17. 17p.
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7 . Academic Journal
Uncovering the clinical relevance of unclassified variants in DNA repair genes: a focus on BRCA negative Tunisian cancer families.
저자
by
Boujemaa, Maroua
;
Nouira, Fatma
;
Jandoubi, Nouha
;
Mejri, Nesrine
;
Bouaziz, Hanen
, et al.
소스
Frontiers in Genetics; 2024, p01-13, 13p
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