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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.
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- Journal of Child Neurology, 2015, v. 30, n. 13, p. 1715, doi. 10.1177/0883073815578529
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- Article
A novel aberrant splice site mutation in COL27A1 is responsible for Steel syndrome and extension of the phenotype to include hearing loss.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 5, p. 1257, doi. 10.1002/ajmg.a.38153
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- Article
Evaluating the Role of MAST1 as an Intellectual Disability Disease Gene: Identification of a Novel De Novo Variant in a Patient with Developmental Disabilities.
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- Journal of Molecular Neuroscience, 2020, v. 70, n. 3, p. 320, doi. 10.1007/s12031-019-01415-8
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- Article
Mitochondrial DNA mutations and polymorphisms in asthenospermic infertile men.
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- Molecular Biology Reports, 2013, v. 40, n. 8, p. 4705, doi. 10.1007/s11033-013-2566-7
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- Article
Bacillus amyloliquefaciens : Harnessing Its Potential for Industrial, Medical, and Agricultural Applications—A Comprehensive Review.
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- Microorganisms, 2023, v. 11, n. 9, p. 2215, doi. 10.3390/microorganisms11092215
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- Article
A rigorous in silico genomic interrogation at 1p13.3 reveals 16 autosomal dominant candidate genes in syndromic neurodevelopmental disorders.
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- Frontiers in Molecular Neuroscience, 2022, v. 16, p. 1, doi. 10.3389/fnmol.2022.979061
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- Article
Do GSTM1 and GSTT1 polymorphisms influence the risk of developing mitochondrial diseases in a Tunisian population?
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- Environmental Science & Pollution Research, 2018, v. 25, n. 6, p. 5779, doi. 10.1007/s11356-017-0775-7
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- Article
A novel m.6307A>G mutation in the mitochondrial COXI gene in asthenozoospermic infertile men.
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- Molecular Reproduction & Development, 2013, v. 80, n. 7, p. 581, doi. 10.1002/mrd.22197
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- Article
Exome sequencing reveals neurodevelopmental genes in simplex consanguineous Iranian families with syndromic autism.
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- BMC Medical Genomics, 2024, v. 17, n. 1, p. 1, doi. 10.1186/s12920-024-01969-6
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- Article
Autosomal recessive non‐syndromic hearing loss genes in Pakistan during the previous three decades.
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- Journal of Cellular & Molecular Medicine, 2024, v. 28, n. 8, p. 1, doi. 10.1111/jcmm.18119
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- Article
Identification of a novel m.9588G > A missense mutation in the mitochondrial COIII gene in asthenozoospermic Tunisian infertile men.
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- Journal of Assisted Reproduction & Genetics, 2014, v. 31, n. 5, p. 595, doi. 10.1007/s10815-014-0187-2
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- Article
Macrocephaly and Digital Anomalies Expand the Phenotypic Spectrum of PGAP2 Variants in Hyperphosphatasia with Impaired Intellectual Development Syndrome 3 (HPMRS3).
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- Human Mutation, 2024, p. 1, doi. 10.1155/2024/5518289
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- Article
A cryptic microdeletion del(12)(p11.21p11.23) within an unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndrome.
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- Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-40037-4
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- Article
A cryptic microdeletion del(12)(p11.21p11.23) within an unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndrome.
- Published in:
- Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-40037-4
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- Publication type:
- Article
Identification of two novel autism genes, TRPC4 and SCFD2, in Qatar simplex families through exome sequencing.
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- Frontiers in Psychiatry, 2023, p. 1, doi. 10.3389/fpsyt.2023.1251884
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- Article