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Importance of TREC and KREC as molecular markers for immunological evaluation of down syndrome children.
- Published in:
- Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-42370-0
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- Publication type:
- Article
Further Evidence of a Continuum in the Clinical Spectrum of Dominant PIEZO2-Related Disorders and Implications in Cerebellar Anomalies.
- Published in:
- Molecular Syndromology, 2022, v. 13, n. 5, p. 389, doi. 10.1159/000523956
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- Publication type:
- Article
Chromosome 9p terminal deletion in nine Egyptian patients and narrowing of the critical region for trigonocephaly.
- Published in:
- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 11, p. 1, doi. 10.1002/mgg3.1829
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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
Lenz–Majewski syndrome in a patient from Egypt.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 10, p. 2039, doi. 10.1002/ajmg.a.61327
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- Publication type:
- Article
Phenotypic and molecular insights into PQBP1‐related intellectual disability.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 11, p. 2446, doi. 10.1002/ajmg.a.40479
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- Publication type:
- Article
Magnetic resonance imaging of developmental facial paresis: a spectrum of complex anomalies.
- Published in:
- Neuroradiology, 2018, v. 60, n. 10, p. 1053, doi. 10.1007/s00234-018-2063-8
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- Publication type:
- Article
Identification of a novel homozygous <italic>ALX4</italic> mutation in two unrelated patients with frontonasal dysplasia type‐2.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 5, p. 1190, doi. 10.1002/ajmg.a.38655
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- Publication type:
- Article
Clinical features of SMARCA2 duplication overlap with Coffin-Siris syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 10, p. 2662, doi. 10.1002/ajmg.a.37778
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- Publication type:
- Article
Expanding the mutation and clinical spectrum of Roberts syndrome.
- Published in:
- Congenital Anomalies, 2016, v. 56, n. 4, p. 154, doi. 10.1111/cga.12151
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- Publication type:
- Article
De Novo Mutation in ABCC9 Causes Hypertrichosis Acromegaloid Facial Features Disorder.
- Published in:
- Pediatric Dermatology, 2016, v. 33, n. 2, p. e109, doi. 10.1111/pde.12821
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- Publication type:
- Article
De Novo 17q24.2-q24.3 microdeletion presenting with generalized hypertrichosis terminalis, gingival fibromatous hyperplasia, and distinctive facial features.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 10, p. 2418, doi. 10.1002/ajmg.a.37185
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- Publication type:
- Article
Mutation in WDR4 impairs tRNA m<sup>7</sup>G<sub>46</sub> methylation and causes a distinct form of microcephalic primordial dwarfism.
- Published in:
- Genome Biology, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s13059-015-0779-x
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- Publication type:
- Article
Gómez-López-hernández syndrome versus rhombencephalosynapsis spectrum: A rare co-occurrence with bipartite parietal bone.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 2, p. 480, doi. 10.1002/ajmg.a.36276
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- Publication type:
- Article
The supposed tumor suppressor gene WWOX is mutated in an early lethal microcephaly syndrome with epilepsy, growth retardation and retinal degeneration.
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/1750-1172-9-12
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- Publication type:
- Article
The supposed tumor suppressor gene WWOX is mutated in an early lethal microcephaly syndrome with epilepsy, growth retardation and retinal degeneration.
- Published in:
- 2014
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- Publication type:
- journal article
Distinct ocular expression in infants and children with down syndrome in cairo, egypt: myopia and heart disease.
- Published in:
- 2013
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- Publication type:
- Journal Article
Distinct Ocular Expression in Infants and Children With Down Syndrome in Cairo, Egypt.
- Published in:
- JAMA Ophthalmology, 2013, v. 131, n. 8, p. 1057, doi. 10.1001/jamaophthalmol.2013.644
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- Publication type:
- Article
Molecular diagnosis of myotonic dystrophy type 1 in Egyptian patients.
- Published in:
- Middle East Journal of Medical Genetics, 2013, v. 2, n. 2, p. 55, doi. 10.1097/01.MXE.0000430776.91633.a4
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- Publication type:
- Article
Growth charts of Down syndrome in Egypt: A study of 434 children 0-36 months of age.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 11, p. 2647, doi. 10.1002/ajmg.a.35468
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- Publication type:
- Article
Growth curves of Egyptian patients with Turner syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 11, p. 2687, doi. 10.1002/ajmg.a.35518
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- Publication type:
- Article
A homozygous IER3IP1 mutation causes microcephaly with simplified gyral pattern, epilepsy, and permanent neonatal diabetes syndrome (MEDS).
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 11, p. 2788, doi. 10.1002/ajmg.a.35583
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- Publication type:
- Article
Ectodermal Abnormalities in Patients with Kabuki Syndrome.
- Published in:
- Pediatric Dermatology, 2011, v. 28, n. 5, p. 507, doi. 10.1111/j.1525-1470.2011.01495.x
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- Publication type:
- Article
Congenital isolated leukonychia totalis in three Egyptian sibs.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 4, p. 811, doi. 10.1002/ajmg.a.33907
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- Publication type:
- Article
GAPO syndrome: first Egyptian case with ultrastructural changes in the gingiva.
- Published in:
- Clinical Genetics, 1997, v. 52, n. 2, p. 110, doi. 10.1111/j.1399-0004.1997.tb02527.x
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- Publication type:
- Article