Found: 12
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A Novel Homozygous Founder Variant of RTN4IP1 in Two Consanguineous Saudi Families.
- Published in:
- Cells (2073-4409), 2022, v. 11, n. 19, p. 3154, doi. 10.3390/cells11193154
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- Publication type:
- Article
Clinical and genetic characteristics of 15 families with hereditary hypophosphatemia: Novel Mutations in PHEX and SLC34A3.
- Published in:
- PLoS ONE, 2018, v. 13, n. 3, p. 1, doi. 10.1371/journal.pone.0193388
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- Publication type:
- Article
Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking.
- Published in:
- 2021
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- Publication type:
- journal article
Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases.
- Published in:
- Acta Neuropathologica, 2020, v. 139, n. 3, p. 415, doi. 10.1007/s00401-019-02109-6
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- Publication type:
- Article
Hematological findings associated with tubulin‐folding cofactors D‐related encephalopathy: Expanding the phenotype.
- Published in:
- Clinical Genetics, 2021, v. 99, n. 5, p. 724, doi. 10.1111/cge.13932
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- Publication type:
- Article
A Novel Homozygous Mutation in SPTBN2 Leads to Spinocerebellar Ataxia in a Consanguineous Family: Report of a New Infantile-Onset Case and Brief Review of the Literature.
- Published in:
- Cerebellum, 2018, v. 17, n. 3, p. 276, doi. 10.1007/s12311-017-0893-2
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- Publication type:
- Article
SLC25A42‐associated mitochondrial encephalomyopathy: Report of additional founder cases and functional characterization of a novel deletion.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2021, v. 60, n. 1, p. 75, doi. 10.1002/jmd2.12218
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- Publication type:
- Article
First report of two successive deletions on chromosome 15q13 cytogenetic bands in a boy and girl: additional data to 15q13.3 syndrome with a report of high IQ patient.
- Published in:
- Molecular Cytogenetics (17558166), 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s13039-019-0432-6
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- Publication type:
- Article
Identification of novel genomic imbalances in Saudi patients with congenital heart disease.
- Published in:
- Molecular Cytogenetics (17558166), 2018, v. 11, p. 1, doi. 10.1186/s13039-018-0356-6
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- Publication type:
- Article
Molecular and clinical spectra of FBXL4 deficiency.
- Published in:
- Human Mutation, 2017, v. 38, n. 12, p. 1649, doi. 10.1002/humu.23341
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- Publication type:
- Article
Genetics of ataxia telangiectasia in a highly consanguineous population.
- Published in:
- Annals of Human Genetics, 2022, v. 86, n. 1, p. 34, doi. 10.1111/ahg.12445
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- Publication type:
- Article
Further delineation of Temtamy syndrome of corpus callosum and ocular abnormalities.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 3, p. 715, doi. 10.1002/ajmg.a.38615
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- Publication type:
- Article