Found: 23
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A novel missense variant in CYP1B1 in an Egyptian patient with Primary Congenital Glaucoma.
- Published in:
- Middle East Journal of Medical Genetics, 2022, v. 11, n. 2, p. 54, doi. 10.21608/MXE.2023.287526
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- Publication type:
- Article
Prenatal presentation of Walker–Warburg syndrome with a POMT2 mutation: an extended fetal phenotype.
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- Egyptian Journal of Medical Human Genetics, 2020, v. 21, n. 1, p. 1, doi. 10.1186/s43042-020-00093-1
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- Publication type:
- Article
Novel congenital disorder of O-linked glycosylation caused by GALNT2 loss of function.
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- 2020
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- Publication type:
- journal article
Loss of Protocadherin-12 Leads to Diencephalic-Mesencephalic Junction Dysplasia Syndrome.
- Published in:
- 2018
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- Publication type:
- journal article
Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy.
- Published in:
- Nature Communications, 2019, v. 10, n. 1, p. 1, doi. 10.1038/s41467-018-07067-3
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- Article
The clinical and genetic landscape of developmental and epileptic encephalopathies in Egyptian children.
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- Clinical Genetics, 2024, v. 105, n. 5, p. 510, doi. 10.1111/cge.14481
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- Publication type:
- Article
Clinical and molecular spectrum of a large Egyptian cohort with ALS2‐related disorders of infantile‐onset of clinical continuum IAHSP/JPLS.
- Published in:
- Clinical Genetics, 2023, v. 104, n. 2, p. 238, doi. 10.1111/cge.14338
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- Publication type:
- Article
ASAH1‐related disorders: Description of 15 novel pediatric patients and expansion of the clinical phenotype.
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- Clinical Genetics, 2020, v. 98, n. 6, p. 598, doi. 10.1111/cge.13834
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- Publication type:
- Article
Micro and Martsolf syndromes in 34 new patients: Refining the phenotypic spectrum and further molecular insights.
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- Clinical Genetics, 2020, v. 98, n. 5, p. 445, doi. 10.1111/cge.13825
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- Publication type:
- Article
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
Developmental abnormalities of mid and hindbrain: a study of 23 Egyptian patients.
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- Egyptian Journal of Medical Human Genetics, 2008, v. 9, n. 2, p. 215
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- Publication type:
- Article
Molecular diagnosis in recessive pediatric neurogenetic disease can help reduce disease recurrence in families.
- Published in:
- BMC Medical Genomics, 2020, v. 13, n. 1, p. 1, doi. 10.1186/s12920-020-0714-1
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- Publication type:
- Article
MLPA analysis for molecular diagnosis of spinal muscular atrophy and correlation of 5q13.2 genes with disease phenotype in Egyptian patients.
- Published in:
- Egyptian Journal of Medical Human Genetics, 2022, v. 23, n. 1, p. 1, doi. 10.1186/s43042-022-00373-y
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- Publication type:
- Article
New recessive syndrome of microcephaly, cerebellar hypoplasia, and congenital heart conduction defect.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 12, p. 3035, doi. 10.1002/ajmg.a.34078
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- Publication type:
- Article
Variable predicted pathogenic mechanisms for novel MECP2 variants in RTT patients.
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- Journal of Genetic Engineering & Biotechnology, 2022, v. 20, n. 1, p. 1, doi. 10.1186/s43141-022-00305-8
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- Publication type:
- Article
An atypical expression of core α-Dystroglycan and Laminin-α2 in skin fibroblasts of patients with congenital muscular dystrophies.
- Published in:
- Molecular Biology Reports, 2023, v. 50, n. 8, p. 6373, doi. 10.1007/s11033-023-08500-7
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- Publication type:
- Article
Refining the phenotypic spectrum of CCDC88A‐related PEHO‐like syndrome.
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- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 2, p. 226, doi. 10.1002/ajmg.a.63425
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- Publication type:
- Article
Prenatal delineation of a distinct lethal fetal syndrome caused by a homozygous truncating KIDINS220 variant.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 12, p. 2867, doi. 10.1002/ajmg.a.61858
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- Publication type:
- 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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- Publication type:
- 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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- Publication type:
- 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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- 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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- Publication type:
- Article
Exome sequencing discloses KALRN homozygous variant as likely cause of intellectual disability and short stature in a consanguineous pedigree.
- Published in:
- Human Genomics, 2016, v. 10, p. 1, doi. 10.1186/s40246-016-0082-2
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- Publication type:
- Article