Found: 13
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Rare Genetic Variation in 135 Families With Family History Suggestive of X-Linked Intellectual Disability.
- Published in:
- Frontiers in Genetics, 2019, p. N.PAG, doi. 10.3389/fgene.2019.00578
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- Publication type:
- Article
Genomic variation in the vomeronasal receptor gene repertoires of inbred mice.
- Published in:
- BMC Genomics, 2012, v. 13, n. 1, p. 415, doi. 10.1186/1471-2164-13-415
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- Publication type:
- Article
MED27, SLC6A7, and MPPE1 Variants in a Complex Neurodevelopmental Disorder with Severe Dystonia.
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- Movement Disorders, 2022, v. 37, n. 10, p. 2139, doi. 10.1002/mds.29147
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- Publication type:
- Article
Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing.
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- Genome Medicine, 2018, v. 10, n. 1, p. N.PAG, doi. 10.1186/s13073-018-0606-6
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- Publication type:
- Article
Unique noncoding variants upstream of PRDM13 are associated with a spectrum of developmental retinal dystrophies including progressive bifocal chorioretinal atrophy.
- Published in:
- Human Mutation, 2019, v. 40, n. 5, p. 578, doi. 10.1002/humu.23715
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- Publication type:
- Article
Structural analysis of pathogenic missense mutations in GABRA2 and identification of a novel de novo variant in the desensitization gate.
- Published in:
- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 7, p. 1, doi. 10.1002/mgg3.1106
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- Publication type:
- Article
Exome sequencing improves genetic diagnosis of structural fetal abnormalities revealed by ultrasound.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 12, p. 3269, doi. 10.1093/hmg/ddu038
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- Publication type:
- Article
Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.
- Published in:
- Human Mutation, 2015, v. 36, n. 12, p. 1197, doi. 10.1002/humu.22901
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- Publication type:
- Article
Uncovering variable neoplasms between ATM protein‐truncating and common missense variants using 394 694 UK Biobank exomes.
- Published in:
- Genes, Chromosomes & Cancer, 2022, v. 61, n. 9, p. 523, doi. 10.1002/gcc.23042
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- Publication type:
- Article
Pharmacogenomic study of heart failure and candesartan response from the CHARM programme.
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- ESC Heart Failure, 2022, v. 9, n. 5, p. 2997, doi. 10.1002/ehf2.14026
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- Publication type:
- Article
Detailed Clinical Phenotype and Molecular Genetic Findings in CLN3-Associated Isolated Retinal Degeneration.
- Published in:
- 2017
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- Publication type:
- journal article
Clinical Characterization of CNGB1-Related Autosomal Recessive Retinitis Pigmentosa.
- Published in:
- 2017
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- Publication type:
- journal article
Delineating the expanding phenotype associated with SCAPER gene mutation.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 8, p. 1665, doi. 10.1002/ajmg.a.61202
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- Publication type:
- Article