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A Novel Mutation p.A59P in N-Terminal Domain of Methyl-CpG-Binding Protein 2 Confers Phenotypic Variability in 3 Cases of Tunisian Rett Patients: Clinical Evaluations and In Silico Investigations. [electronic resource] by
- Kharrat, Marwa
- Hsairi, Ines
- Fendri-Kriaa, Nourhene
- Kenoun, Houda
- Othmen, Houda Ben
- Ben Mahmoud, Afif
- Ghorbel, Rania
- Abid, Imen
- Triki, Chahnez
- Fakhfakh, Faiza
Producer: 20160810
In:
Journal of child neurology vol. 30
Availability: No items available.
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Whole mitochondrial genome screening of a family with maternally inherited diabetes and deafness (MIDD) associated with retinopathy: A putative haplotype associated to MIDD and a novel MT-CO2 m.8241T>G mutation. [electronic resource] by
- Tabebi, Mouna
- Charfi, Nadia
- Kallabi, Fakhri
- Alila-Fersi, Olfa
- Ben Mahmoud, Afif
- Tlili, Abdelaziz
- Keskes-Ammar, Leila
- Kamoun, Hassen
- Abid, Mohamed
- Mnif, Mouna
- Fakhfakh, Faiza
Producer: 20180226
In:
Journal of diabetes and its complications vol. 31
Availability: No items available.
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A novel mutation MT-COIII m.9267G>C and MT-COI m.5913G>A mutation in mitochondrial genes in a Tunisian family with maternally inherited diabetes and deafness (MIDD) associated with severe nephropathy. [electronic resource] by
- Tabebi, Mouna
- Mkaouar-Rebai, Emna
- Mnif, Mouna
- Kallabi, Fakhri
- Ben Mahmoud, Afif
- Ben Saad, Wafa
- Charfi, Nadia
- Keskes-Ammar, Leila
- Kamoun, Hassen
- Abid, Mohamed
- Fakhfakh, Faiza
Producer: 20150622
In:
Biochemical and biophysical research communications vol. 459
Availability: No items available.
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