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1 . Academic Journal
The first concurrent detection of mitochondrial DNA m.3243A>G mutation, deletion, and depletion in a family with mitochondrial diabetes
저자
by
Mouna Tabebi
;
Wajdi Safi
;
Rahma Felhi
;
Olfa Alila Fersi
;
Leila Keskes
, et al.
소스
Molecular Genetics & Genomic Medicine, Vol 8, Iss 7, Pp n/a-n/a (2020)
Open Access (Wiley)
Open Access (DOAJ)
Web of Science
Scopus
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7 .
A novel thymidine phosphorylase mutation in a family with Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE): Molecular docking, dynamic simulation and computational investigations
저자
by
Marwa Ammar
;
Wajdi Safi
;
Abdelaziz Tlili
;
Olfa Alila‐Fersi
;
Fakher Frikha
, et al.
소스
International Journal of Developmental Neuroscience
. 82:626-638
Web of Science
Scopus
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7 .
First description of the MEGDEHL syndrome in the Tunisian population via whole-exome sequencing: Novel nonsense mutation in SERAC1 gene
저자
by
Rahma Felhi
;
Kamel Monastiri
;
Hayet Ben Hamida
;
Marwa Ammar
;
Fatma Zohra Chioukh
, et al.
소스
International journal of developmental neuroscience : the official journal of the International Society for Developmental NeuroscienceREFERENCES
. 82(8)
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7 .
Severe Wolfram Syndrome Caused by a Novel Frameshift Mutation in WFS1 Gene: Effect on the WFS1/CaM Interaction and Phenotype-Genotype Correlation
저자
by
Baha Zantour
;
Mouna Tabebi
;
Mohammed Abid
;
Faiza Fakhfakh
;
Wajdi Safi
, et al.
소스
Open Journal of Genetics
. 11:77-92
Open Access (OpenAIRE)
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7 .
Mitochondrial disease patients with novel ND4 12058A > C and ND1 m.3911A > G variations: implications for a role in the phenotype following a bioinformatic investigation
저자
by
Olfa Alila-Fersi
;
Lamia Sfaihi
;
Mongia Hachicha
;
Faiza Fakhfakh
;
Marwa Ammar
, et al.
소스
Molecular Biology Reports
.
Scopus
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7 .
Next generation sequencing in family with MNGIE syndrome associated to optic atrophy: Novel homozygous POLG mutation in the C-terminal sub-domain leading to mtDNA depletion
저자
by
David Goudenège
;
Pascal Reynier
;
Majida Charif
;
Rahma Felhi
;
Dominique Bonneau
, et al.
소스
Clinica Chimica Acta
Clinica Chimica Acta, Elsevier, 2019, 488, pp.104-110. ⟨10.1016/j.cca.2018.11.003⟩
Web of Science
Scopus
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7 .
The first concurrent detection of mitochondrial DNA m.3243A>G mutation, deletion, and depletion in a family with mitochondrial diabetes
저자
by
Olfa Alila Fersi
;
Rahma Felhi
;
Leila Keskes
;
Wajdi Safi
;
Mohamed Abid
, et al.
소스
Molecular Genetics & Genomic Medicine, Vol 8, Iss 7, Pp n/a-n/a (2020)
Molecular Genetics & Genomic Medicine
Open Access (OpenAIRE)
Scopus
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7 .
Mutations in aARS genes revealed by targeted next-generation sequencing in patients with mitochondrial diseases
저자
by
Rim Kallel
;
Vincent Procaccio
;
Patrizia Amati-Bonneau
;
Faiza Fakhfakh
;
Majida Charif
, et al.
소스
Molecular Biology Reports
Molecular Biology Reports, Springer Verlag, 2020, 47 (5), pp.3779-3787. ⟨10.1007/s11033-020-05425-3⟩
Scopus
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7 .
Cytochrome C oxydase deficiency: SURF1 gene investigation in patients with Leigh syndrome
저자
by
Mongia Hachicha
;
Marwa Maalej
;
Olfa Alila-Fersi
;
Faiza Fakhfakh
;
Marwa Ammar
, et al.
소스
Biochemical and Biophysical Research Communications
. 497:1043-1048
Web of Science
Scopus
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7 .
Clinical, Molecular, and Computational Analysis in two cases with mitochondrial encephalomyopathy associated with SUCLG1 mutation in a consanguineous family
저자
by
Faiza Fakhfakh
;
Emna Mkaouar-Rebai
;
Leila Keskes
;
Marwa Ammar
;
Amel Tej
, et al.
소스
Biochemical and Biophysical Research Communications
. 495:1730-1737
Web of Science
Scopus
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