Found: 37
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ACO2 clinicobiological dataset with extensive phenotype ontology annotation.
- Published in:
- Scientific Data, 2021, v. 8, n. 1, p. 1, doi. 10.1038/s41597-021-00984-x
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- Publication type:
- Article
Characterization of SSBP1-related optic atrophy and foveopathy.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-98150-1
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- Publication type:
- Article
Triple-A Syndrome in Morocco: Founder Effect, Age Estimation of the AAAS c.1331+1G>A Variant, and Implications for Genetic Diagnosis.
- Published in:
- Molecular Syndromology, 2024, v. 15, n. 2, p. 96, doi. 10.1159/000533894
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- Publication type:
- Article
Autosomal recessive Leber hereditary optic neuropathy, a new neuro-ophthalmo-genetic paradigm.
- Published in:
- Brain: A Journal of Neurology, 2023, v. 146, n. 8, p. 3156, doi. 10.1093/brain/awad131
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- Publication type:
- Article
The top 10 most frequently involved genes in hereditary optic neuropathies in 2186 probands.
- Published in:
- 2023
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- Publication type:
- journal article
Reply: The expanding neurological phenotype of DNM1L-related disorders.
- Published in:
- 2018
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- Publication type:
- Letter
Mutations in DNM1L, as in OPA1, result in dominant optic atrophy despite opposite effects on mitochondrial fusion and fission.
- Published in:
- 2017
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- Publication type:
- journal article
Molecular heterogeneity of β‐thalassemia variants in the Eastern region of Morocco.
- Published in:
- Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 8, p. 1, doi. 10.1002/mgg3.1970
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- Publication type:
- Article
Second report of RING finger protein 113A (RNF113A) involvement in a Mendelian disorder.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 3, p. 565, doi. 10.1002/ajmg.a.61384
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- Publication type:
- Article
Optic neuropathy, cardiomyopathy, cognitive disability in patients with a homozygous mutation in the nuclear MTO1 and a mitochondrial MT-TF variant.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 10, p. 2366, doi. 10.1002/ajmg.a.37188
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- Publication type:
- Article
Recessive TBC1D24 Mutations Are Frequent in Moroccan Non-Syndromic Hearing Loss Pedigrees.
- Published in:
- PLoS ONE, 2015, v. 10, n. 9, p. 1, doi. 10.1371/journal.pone.0138072
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- Publication type:
- Article
Association of Spermatogenic Failure with the b2/b3 Partial AZFc Deletion.
- Published in:
- PLoS ONE, 2012, v. 7, n. 4, p. 1, doi. 10.1371/journal.pone.0034902
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- Publication type:
- Article
Association of the MTHFR A1298C Variant with Unexplained Severe Male Infertility.
- Published in:
- PLoS ONE, 2012, v. 7, n. 3, p. 1, doi. 10.1371/journal.pone.0034111
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- Publication type:
- Article
Homozygous Missense Variants in FOXI1 and TMPRSS3 Genes Associated with Non-syndromic Deafness in Moroccan Families.
- Published in:
- Biochemical Genetics, 2024, v. 62, n. 3, p. 1914, doi. 10.1007/s10528-023-10515-5
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- Publication type:
- Article
A novel mutation of AFG3L2 might cause dominant optic atrophy in patients with mild intellectual disability.
- Published in:
- Frontiers in Genetics, 2015, v. 6, p. 1, doi. 10.3389/fgene.2015.00311
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- Publication type:
- Article
Next-generation sequencing of Tunisian Leigh syndrome patients reveals novel variations: impact for diagnosis and treatment.
- Published in:
- Bioscience Reports, 2022, v. 42, n. 9, p. 1, doi. 10.1042/BSR20220194
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- Publication type:
- Article
Mutations in aARS genes revealed by targeted next-generation sequencing in patients with mitochondrial diseases.
- Published in:
- Molecular Biology Reports, 2020, v. 47, n. 5, p. 3779, doi. 10.1007/s11033-020-05425-3
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- Publication type:
- Article
Novel compound heterozygous mutations in the GPR98 ( USH2C) gene identified by whole exome sequencing in a Moroccan deaf family.
- Published in:
- Molecular Biology Reports, 2017, v. 44, n. 5, p. 429, doi. 10.1007/s11033-017-4129-9
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- Publication type:
- Article
The c.242G>A mutation in LRTOMT gene is responsible for a high prevalence of deafness in the Moroccan population.
- Published in:
- Molecular Biology Reports, 2012, v. 39, n. 12, p. 11011, doi. 10.1007/s11033-012-2003-3
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- Publication type:
- Article
Neurologic Phenotypes Associated With Mutations in RTN4IP1 (OPA10) in Children and Young Adults.
- Published in:
- JAMA Neurology, 2018, v. 75, n. 1, p. 105, doi. 10.1001/jamaneurol.2017.2065
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- Publication type:
- Article
GNE Myopathy and Duchenne Muscular Dystrophy in Two Moroccans Families.
- Published in:
- Muscles, Ligaments & Tendons Journal (MLTJ), 2023, v. 13, n. 4, p. 653, doi. 10.32098/mltj.04.2023.18
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- Publication type:
- Article
Vitamin B1 deficiency leads to high oxidative stress and mtDNA depletion caused by SLC19A3 mutation in consanguineous family with Leigh syndrome.
- Published in:
- Metabolic Brain Disease, 2023, v. 38, n. 7, p. 2489, doi. 10.1007/s11011-023-01280-w
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- Publication type:
- Article
Clinical and genetic spectrums of 413 North African families with inherited retinal dystrophies and optic neuropathies.
- Published in:
- 2022
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- Publication type:
- journal article
The human OPA1<sup>delTTAG</sup> mutation induces adult onset and progressive auditory neuropathy in mice.
- Published in:
- Cellular & Molecular Life Sciences, 2024, v. 81, n. 1, p. 1, doi. 10.1007/s00018-024-05115-4
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- Publication type:
- Article
Clinical and genetic investigations of three Moroccan families with retinitis pigmentosa phenotypes.
- Published in:
- Molecular Vision, 2021, v. 27, p. 17
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- Publication type:
- Article
Dominant mutations in mtDNA maintenance gene SSBP1 cause optic atrophy and foveopathy.
- Published in:
- 2020
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- Publication type:
- journal article
Dominant mutations in mtDNA maintenance gene SSBP1 cause optic atrophy and foveopathy.
- Published in:
- Journal of Clinical Investigation, 2020, v. 130, n. 1, p. 143, doi. 10.1172/JCI128513
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- Publication type:
- Article
Hereditary spastic paraplegia and prominent sensorial involvement: think MAG mutations!
- Published in:
- Annals of Clinical & Translational Neurology, 2019, v. 6, n. 8, p. 1572, doi. 10.1002/acn3.50860
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- Publication type:
- Article
JAK2 mutational status and the contribution of TERT and JAK2 polymorphisms to the occurrence of myeloproliferative neoplasms in Eastern Morocco.
- Published in:
- African Health Sciences, 2024, v. 24, n. 3, p. 138, doi. 10.4314/ahs.v24i3.18
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- Publication type:
- Article
Mutation in NDUFA13/GRIM19 leads to early onset hypotonia, dyskinesia and sensorial deficiencies, and mitochondrial complex I instability.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 14, p. 3948, doi. 10.1093/hmg/ddv133
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- Publication type:
- Article
Use of Next-Generation Sequencing for the Molecular Diagnosis of 1,102 Patients With a Autosomal Optic Neuropathy.
- Published in:
- Frontiers in Neurology, 2021, v. 11, p. N.PAG, doi. 10.3389/fneur.2021.602979
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- Publication type:
- Article
Maternal Effect and Familial Aggregation in a Type 2 Diabetic Moroccan Population.
- Published in:
- Journal of Community Health, 2011, v. 36, n. 6, p. 943, doi. 10.1007/s10900-011-9393-3
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- Publication type:
- Article
Morocco's First Biobank: Establishment, Ethical Issues, Biomedical Research Opportunities, and Challenges.
- Published in:
- BioMed Research International, 2020, p. 1, doi. 10.1155/2020/8812609
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- Publication type:
- Article
Expanding the genetic spectrum of mitochondrial diseases in Tunisia: novel variants revealed by whole-exome sequencing.
- Published in:
- Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2023.1259826
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- Publication type:
- Article
Next-Generation Sequencing Identifies Novel PMPCA Variants in Patients with Late-Onset Dominant Optic Atrophy.
- Published in:
- Genes, 2022, v. 13, n. 7, p. 1202, doi. 10.3390/genes13071202
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- Publication type:
- Article
Novel compound heterozygous MYO7A mutations in Moroccan families with autosomal recessive non-syndromic hearing loss.
- Published in:
- PLoS ONE, 2017, v. 12, n. 5, p. 1, doi. 10.1371/journal.pone.0176516
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- Publication type:
- Article
Dominant mutations in MIEF1 affect mitochondrial dynamics and cause a singular late onset optic neuropathy.
- Published in:
- Molecular Neurodegeneration, 2021, v. 16, n. 1, p. 1, doi. 10.1186/s13024-021-00431-w
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- Publication type:
- Article