Found: 10
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Novel phenotypes and loci identified through clinical genomics approaches to pediatric cataract.
- Published in:
- Human Genetics, 2017, v. 136, n. 2, p. 205, doi. 10.1007/s00439-016-1747-6
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- Publication type:
- Article
Expanded Newborn Screening Program in Saudi Arabia: Incidence of screened disorders.
- Published in:
- 2017
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- Publication type:
- journal article
ZNFX1 Deficiency in a Child with Interstitial Pneumonitis and Peripheral Monocytosis.
- Published in:
- Journal of Clinical Immunology, 2023, v. 43, n. 7, p. 1529, doi. 10.1007/s10875-023-01529-0
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- Publication type:
- Article
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
Systemic lupus erythematosus in a girl with PTEN variant and transaldolase deficiency: a novel phenotype.
- Published in:
- Clinical Rheumatology, 2020, v. 39, n. 11, p. 3511, doi. 10.1007/s10067-020-05205-1
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- Publication type:
- Article
Tectocerebellar dysraphia with occipital encephalocele: a phenotypic variant of the TMEM231 gene mutation induced Joubert syndrome.
- Published in:
- Child's Nervous System, 2019, v. 35, n. 7, p. 1257, doi. 10.1007/s00381-019-04048-9
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- Publication type:
- Article
Validation of Ion TorrentTM Inherited Disease Panel with the PGMTM Sequencing Platform for Rapid and Comprehensive Mutation Detection.
- Published in:
- Genes, 2018, v. 9, n. 5, p. 267, doi. 10.3390/genes9050267
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- Publication type:
- Article
Warsaw breakage syndrome: Further clinical and genetic delineation.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 11, p. 2404, doi. 10.1002/ajmg.a.40482
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- Publication type:
- Article
Novel biallelic variants expand the phenotype of NAA20‐related syndrome.
- Published in:
- Clinical Genetics, 2023, v. 104, n. 3, p. 371, doi. 10.1111/cge.14359
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- Publication type:
- Article
A new association between <italic>CDK5RAP2</italic> microcephaly and congenital cataracts.
- Published in:
- Annals of Human Genetics, 2018, v. 82, n. 3, p. 165, doi. 10.1111/ahg.12232
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- Publication type:
- Article