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A founder mutation in PEX12 among Egyptian patients in peroxisomal biogenesis disorder.
- Published in:
- Neurological Sciences, 2021, v. 42, n. 7, p. 2737, doi. 10.1007/s10072-020-04843-2
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- Article
Exploiting the Autozygome to Support Previously Published Mendelian Gene-Disease Associations: An Update.
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- Frontiers in Genetics, 2020, v. 11, p. N.PAG, doi. 10.3389/fgene.2020.580484
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- Article
First Report of Two Egyptian Patients with Desbuquois Dysplasia due to Homozygous CANT1 Mutations.
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- Molecular Syndromology, 2021, v. 12, n. 5, p. 279, doi. 10.1159/000516607
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- Article
Clinical and genetic characterization of ten Egyptian patients with Wolf–Hirschhorn syndrome and review of literature.
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- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 2, p. 1, doi. 10.1002/mgg3.1546
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- Article
Growth Charts for Egyptian Children with Achondroplasia.
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- Journal of Clinical & Diagnostic Research, 2019, v. 13, n. 5, p. 1, doi. 10.7860/JCDR/2019/39555.12837
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- Article
Altered Adaptive Cellular Immune Function in a Group of Egyptian Children with Autism.
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- Journal of Clinical & Diagnostic Research, 2017, v. 11, n. 10, p. 14, doi. 10.7860/JCDR/2017/28124.10782
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- Publication type:
- Article
Study of C677T variant of methylene tetrahydrofolate reductase gene in autistic spectrum disorder Egyptian children.
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- American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2019, v. 180, n. 5, p. 305, doi. 10.1002/ajmg.b.32729
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- Article
Blepharophimosis‐ptosis‐intellectual disability syndrome: A report of nine Egyptian patients with further expansion of phenotypic and mutational spectrum.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 12, p. 2857, doi. 10.1002/ajmg.a.61857
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- Article
Microcephalic osteodysplastic primordial dwarfism type II: Additional nine patients with implications on phenotype and genotype correlation.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 6, p. 1407, doi. 10.1002/ajmg.a.61585
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- Article
GAPO syndrome in seven new patients: Identification of five novel ANTXR1 mutations including the first large intragenic deletion.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 2, p. 237, doi. 10.1002/ajmg.a.61021
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- Article
Phenotypic and molecular insights into PQBP1‐related intellectual disability.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 11, p. 2446, doi. 10.1002/ajmg.a.40479
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- Article
Clinical and Molecular Characterization of Seven Egyptian Families with Autosomal Recessive Robinow Syndrome: Identification of Four Novel ROR2 Gene Mutations.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 12, p. 3054, doi. 10.1002/ajmg.a.37287
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- Publication type:
- Article
Further delineation of the clinical spectrum in RNU 4 ATAC related microcephalic osteodysplastic primordial dwarfism type I.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 8, p. 1875, doi. 10.1002/ajmg.a.36009
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- Article
Megalencephalic leukoencephalopathy with cysts in twelve Egyptian patients: novel mutations in MLC1 and HEPACAM and a founder effect.
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- Metabolic Brain Disease, 2016, v. 31, n. 5, p. 1171, doi. 10.1007/s11011-016-9861-7
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- Publication type:
- Article
Genetic assessment of ten Egyptian patients with Sjögren–Larsson syndrome: expanding the clinical spectrum and reporting a novel ALDH3A2 mutation.
- Published in:
- Archives of Dermatological Research, 2019, v. 311, n. 9, p. 721, doi. 10.1007/s00403-019-01953-6
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- Article
Genetic variants in components of the NALCN-UNC80-UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies).
- Published in:
- Human Genetics, 2018, v. 137, n. 9, p. 753, doi. 10.1007/s00439-018-1929-5
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- Article
Chromosome 7p disruptions in Silver Russell syndrome: delineating an imprinted candidate gene region.
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- Human Genetics, 2002, v. 111, n. 4/5, p. 376, doi. 10.1007/s00439-002-0777-4
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- Publication type:
- Article
Autism spectrum disorder and achondroplasia in an Egyptian patient.
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- Middle East Journal of Medical Genetics, 2021, v. 10, n. 2, p. 101, doi. 10.4103/mxe.mxe_7_21
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- Article
Phelan-McDermid Syndrome: Expanding the Phenotype.
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- Middle East Journal of Medical Genetics, 2022, v. 11, n. 2, p. 46, doi. 10.21608/MXE.2023.287525
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- Article
Genetic syndromes with premature loss of teeth: A retrospective study and a suggested classification.
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- Middle East Journal of Medical Genetics, 2019, v. 8, n. 2, p. 100, doi. 10.4103/MXE.MXE_23_19
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- Article
Mild phenotype of Molybdenum cofactor (MoCo) deficiency Type B among Egyptian patients.
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- Middle East Journal of Medical Genetics, 2022, v. 11, n. 1, p. 29, doi. 10.21608/MXE.2023.283880
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- Publication type:
- Article
Phenotypic overlap between McKusick-Kaufman and Bardet-Biedl syndromes in two Egyptian families.
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- Middle East Journal of Medical Genetics, 2020, v. 9, n. 2, p. 1
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- Article
Cytogenetic study of a large cohort of patients with corpus callosum abnormalities.
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- Middle East Journal of Medical Genetics, 2019, v. 8, n. 2, p. 158, doi. 10.4103/MXE.MXE_7_20
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- Article
A novel matrix metalloproteinase-2 mutation in two Egyptian siblings with Winchester syndrome.
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- Middle East Journal of Medical Genetics, 2019, v. 8, n. 1, p. 55, doi. 10.4103/MXE.MXE_9_19
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- Publication type:
- Article
Body image, Anxiety, Depression and DNA damage in Obese Egyptian Women.
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- Middle East Journal of Medical Genetics, 2019, v. 8, n. 1, p. 42, doi. 10.4103/MXE.MXE_7_19
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- Publication type:
- Article
Clinical and cytogenetic analysis of terminal 22q13.3 deletion in two patients with ring chromosome 22.
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- Middle East Journal of Medical Genetics, 2018, v. 7, n. 2, p. 139, doi. 10.4103/MXE.MXE_19_18
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- Article
Corpus callosum abnormalities in 64 Egyptian patients: Neuropsychological and genetic studies.
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- Middle East Journal of Medical Genetics, 2018, v. 7, n. 2, p. 88, doi. 10.4103/MXE.MXE_6_18
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- Article
Genetic study of the association of specific language impairment to markers near FOXP2 gene.
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- Middle East Journal of Medical Genetics, 2018, v. 7, n. 2, p. 118, doi. 10.4103/MXE.MXE_17_18
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- Article
Nager acrofacial dysostosis with a novel mutation in SF3B4 and developmental retardation in an Egyptian child.
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- Middle East Journal of Medical Genetics, 2017, v. 6, n. 2, p. 82, doi. 10.1097/01.MXE.0000521018.95032.31
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- Article
Clinical and cytogenetic description of three patients with constitutional mosaic trisomy 8.
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- Middle East Journal of Medical Genetics, 2017, v. 8, n. 1, p. 29, doi. 10.1097/01.MXE.0000511080.21083.0a
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- Article
Assessment of metal content and oxidative stress in autistic Egyptian patients.
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- Middle East Journal of Medical Genetics, 2013, v. 2, n. 1, p. 23, doi. 10.1097/01.MXE.0000422775.82611.a3
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- Article
Hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia in four Egyptian families: report of three novel mutations in the vitamin D receptor gene.
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- Journal of Pediatric Endocrinology & Metabolism, 2014, v. 27, n. 6/10, p. 873, doi. 10.1515/jpem-2013-0443
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- Article
Mutation in WDR4 impairs tRNA m<sup>7</sup>G<sub>46</sub> methylation and causes a distinct form of microcephalic primordial dwarfism.
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- Genome Biology, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s13059-015-0779-x
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- Article
Metabolic abnormalities in young Egyptian women with polycystic ovary syndrome and their relation to ADIPOQ gene variants and body fat phenotype.
- Published in:
- Egyptian Journal of Medical Human Genetics, 2015, v. 16, n. 4, p. 367, doi. 10.1016/j.ejmhg.2015.05.007
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- Article
Genetic variants of neurotransmitter-related genes and miRNAs in Egyptian autistic patients.
- Published in:
- 2014
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- Publication type:
- journal article
Genetic Variants of Neurotransmitter-Related Genes and miRNAs in Egyptian Autistic Patients.
- Published in:
- Scientific World Journal, 2013, p. 1, doi. 10.1155/2013/670621
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- Article