Found: 25
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RTN2 deficiency results in an autosomal recessive distal motor neuropathy with lower limb spasticity.
- Published in:
- Brain: A Journal of Neurology, 2024, v. 147, n. 7, p. 2334, doi. 10.1093/brain/awae091
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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, biochemical, and molecular characterization of mucopolysaccharidosis type III in 34 Egyptian patients.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 9, p. 2354, doi. 10.1002/ajmg.a.63342
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- Article
Organic acidurias in Egyptian children: The urge for high‐risk screening.
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- Pediatrics International, 2023, v. 65, n. 1, p. 1, doi. 10.1111/ped.15469
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- Article
Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy.
- Published in:
- 2022
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- journal article
Clinical and biochemical spectrum of metabolic cardiomyopathy in Egyptian children.
- Published in:
- African Health Sciences, 2022, v. 22, n. 1, p. 200, doi. 10.4314/ahs.v22i1.26
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- Publication type:
- Article
A novel POU1F1 pathogenic variant: Two familial case reports with phenotype expansion.
- Published in:
- Clinical Genetics, 2021, v. 100, n. 5, p. 641, doi. 10.1111/cge.14043
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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
ASAH1‐related disorders: Description of 15 novel pediatric patients and expansion of the clinical phenotype.
- Published in:
- Clinical Genetics, 2020, v. 98, n. 6, p. 598, doi. 10.1111/cge.13834
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- Publication type:
- Article
Author Correction: Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology.
- Published in:
- 2020
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- Publication type:
- Correction Notice
Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology.
- Published in:
- Nature Communications, 2020, v. 11, n. 1, p. N.PAG, doi. 10.1038/s41467-020-18146-9
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- Publication type:
- Article
ASAH1 pathogenic variants associated with acid ceramidase deficiency: Farber disease and spinal muscular atrophy with progressive myoclonic epilepsy.
- Published in:
- Human Mutation, 2020, v. 41, n. 9, p. 1469, doi. 10.1002/humu.24056
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- Publication type:
- Article
Genetic, clinical and biochemical characterization of a large cohort of patients with hyaline fibromatosis syndrome.
- Published in:
- 2019
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- Publication type:
- journal article
Clinical, biomarker and genetic spectrum of Niemann‐Pick type C in Egypt: The detection of nine novel NPC1 mutations.
- Published in:
- Clinical Genetics, 2019, v. 95, n. 4, p. 537, doi. 10.1111/cge.13492
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- Publication type:
- Article
Cardiovascular Abnormalities in Egyptian Children with Mucopolysaccharidoses.
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- Journal of Clinical & Diagnostic Research, 2016, v. 10, n. 11, p. 5, doi. 10.7860/JCDR/2016/21135.8851
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- Publication type:
- Article
Inborn errors of metabolism detectable by tandem mass spectrometry in Egypt: The first newborn screening pilot study.
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- Journal of Medical Screening, 2016, v. 23, n. 3, p. 124, doi. 10.1177/0969141315618229
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- Publication type:
- Article
Lysosomal Storage Disorders in Egyptian Children.
- Published in:
- 2016
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- Publication type:
- journal article
PYCR2 Mutations cause a lethal syndrome of microcephaly and failure to thrive.
- Published in:
- 2016
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- Publication type:
- journal article
Diagnosis and treatment of late-onset Pompe disease in the Middle East and North Africa region: consensus recommendations from an expert group.
- Published in:
- 2015
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- Publication type:
- journal article
Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction.
- Published in:
- Nature Genetics, 2015, v. 47, n. 5, p. 528, doi. 10.1038/ng.3256
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- Publication type:
- Article
Mitochondrial encephalopathy with lactic acidosis and stroke-like episodes in a Japanese child: Clinical, radiological and molecular genetic analysis.
- Published in:
- 2013
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- Publication type:
- Case Study
Merosin deficient congenital muscular dystrophy: Clinical, neuroimaging and immunohistochemical study of 8 Egyptian pediatric patients.
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- Journal of Genetic Engineering & Biotechnology, 2013, v. 11, n. 1, p. 61, doi. 10.1016/j.jgeb.2013.02.003
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- Publication type:
- Article
Mitochondrial DNA depletion syndrome presenting with ataxia and external ophthalmoplegia: Case report.
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- 2012
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- Publication type:
- Case Study
Exome Sequencing Can Improve Diagnosis and Alter Patient Management.
- Published in:
- Science Translational Medicine, 2012, v. 4, n. 138, p. 1, doi. 10.1126/scitranslmed.3003544
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- Publication type:
- Article
Developmental abnormalities of mid and hindbrain: a study of 23 Egyptian patients.
- Published in:
- Egyptian Journal of Medical Human Genetics, 2008, v. 9, n. 2, p. 215
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- Publication type:
- Article