Found: 13
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A novel splice-site FHOD3 founder variant is a common cause of hypertrophic cardiomyopathy in the population of the Balkans–A cohort study.
- Published in:
- PLoS ONE, 2023, v. 18, n. 12, p. 1, doi. 10.1371/journal.pone.0294969
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- Article
Case Report: Non-ossifying fibromas with pathologic fractures in a patient with NONOassociated X-linked syndromic intellectual developmental disorder.
- Published in:
- Frontiers in Genetics, 2023, p. 1, doi. 10.3389/fgene.2023.1167054
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- Article
Case Report: SATB2 -Associated Syndrome Overlapping With Clinical Mitochondrial Disease Presentation: Report of Two Cases.
- Published in:
- Frontiers in Genetics, 2021, v. 11, p. 1, doi. 10.3389/fgene.2021.692087
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- Article
Diagnostic outcomes of exome sequencing in patients with syndromic or non-syndromic hearing loss.
- Published in:
- PLoS ONE, 2018, v. 13, n. 1, p. 1, doi. 10.1371/journal.pone.0188578
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- Article
Survival among children with 'Lethal' congenital contracture syndrome 11 caused by novel mutations in the gliomedin gene ( GLDN).
- Published in:
- Human Mutation, 2017, v. 38, n. 11, p. 1477, doi. 10.1002/humu.23297
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- Article
Clinical utility of array comparative genomic hybridisation in prenatal setting.
- Published in:
- BMC Medical Genetics, 2016, v. 17, p. 1, doi. 10.1186/s12881-016-0345-8
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- Article
Identification of a novel insertion mutation in FGFR3 that causes thanatophoric dysplasia type 1.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 6, p. 1573, doi. 10.1002/ajmg.a.37609
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- Article
End-Stage Renal Disease in an Infant With Hajdu-Cheney Syndrome.
- Published in:
- Therapeutic Apheresis & Dialysis, 2016, v. 20, n. 3, p. 318, doi. 10.1111/1744-9987.12444
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- Publication type:
- Article
6p21.3 microdeletion involving the SYNGAP1 gene in a patient with intellectual disability, seizures, and severe speech impairment.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 7, p. 1682, doi. 10.1002/ajmg.a.35930
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- Article
Early onset West syndrome with severe hypomyelination and coloboma-like optic discs in a girl with SPTAN1 mutation.
- Published in:
- Epilepsia (Series 4), 2012, v. 53, n. 6, p. e106, doi. 10.1111/j.1528-1167.2012.03437.x
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- Article
Multiple de novo copy number variations in two subjects with developmental problems and multiple congenital anomalies.
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- 2012
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- Abstract
Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia.
- Published in:
- Brain: A Journal of Neurology, 2011, v. 134, n. 1, p. 143, doi. 10.1093/brain/awq287
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- Publication type:
- Article
Red cell pyruvate kinase deficiency: 17 new mutations of the PK-LR gene.
- Published in:
- British Journal of Haematology, 2005, v. 129, n. 6, p. 839, doi. 10.1111/j.1365-2141.2005.05520.x
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- Publication type:
- Article