Found: 17
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How parents of children with ataxia‐telangiectasia use dynamic coping to navigate cyclical uncertainty.
- Published in:
- Journal of Genetic Counseling, 2024, v. 33, n. 2, p. 301, doi. 10.1002/jgc4.1727
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- Article
Misattributed parentage identified through diagnostic exome sequencing: Frequency of detection and reporting practices.
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- Journal of Genetic Counseling, 2022, v. 31, n. 3, p. 631, doi. 10.1002/jgc4.1530
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- Publication type:
- Article
The Epithelial Sodium Channel Is a Modifier of the Long-Term Nonprogressive Phenotype Associated with F508del CFTR Mutations.
- Published in:
- American Journal of Respiratory Cell & Molecular Biology, 2017, v. 57, n. 6, p. 711, doi. 10.1165/rcmb.2017-0166OC
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- Article
A compound heterozygous mutation in GPD1 causes hepatomegaly, steatohepatitis, and hypertriglyceridemia.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 10, p. 1229, doi. 10.1038/ejhg.2014.8
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- Article
Backpack health reduces data‐sharing barriers between the medical community and individuals with rare diseases.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2021, v. 187, n. 1, p. 7, doi. 10.1002/ajmg.c.31868
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- Article
Clinical diagnostic exome sequencing in dystonia: Genetic testing challenges for complex conditions.
- Published in:
- Clinical Genetics, 2020, v. 97, n. 2, p. 305, doi. 10.1111/cge.13657
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- Publication type:
- Article
Inherited bone marrow failure with macrothrombocytopenia due to germline tubulin beta class I (TUBB) variant.
- Published in:
- British Journal of Haematology, 2023, v. 200, n. 2, p. 222, doi. 10.1111/bjh.18491
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- Article
Biallelic variants in GTF3C5, a regulator of RNA polymerase III-mediated transcription, cause a multisystem developmental disorder.
- Published in:
- Human Genetics, 2024, v. 143, n. 3, p. 437, doi. 10.1007/s00439-024-02656-3
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- Article
Whole exome sequencing identifies RAI1 mutation in a morbidly obese child diagnosed with ROHHAD syndrome.
- Published in:
- 2015
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- Publication type:
- journal article
Long-Gap Esophageal Atresia Is a Unique Entity within the Esophageal Atresia Defect Spectrum.
- Published in:
- Neonatology (16617800), 2017, v. 111, n. 2, p. 140, doi. 10.1159/000449241
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- Article
Diagnostic testing laboratories are valuable partners for disease gene discovery: 5‐year experience with GeneMatcher.
- Published in:
- Human Mutation, 2022, v. 43, n. 6, p. 772, doi. 10.1002/humu.24342
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- Publication type:
- Article
An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.
- Published in:
- Genome Biology, 2014, v. 15, n. 2, p. R53, doi. 10.1186/gb-2014-15-3-r53
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- Publication type:
- Article
Three‐generation family with novel contiguous gene deletion on chromosome 2p22 associated with thoracic aortic aneurysm syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 3, p. 560, doi. 10.1002/ajmg.a.38590
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- Publication type:
- Article
Overlapping 16p13.11 deletion and gain of copies variations associated with childhood onset psychosis include genes with mechanistic implications for autism associated pathways: Two case reports.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1165, doi. 10.1002/ajmg.a.37595
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- Publication type:
- Article
Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.
- Published in:
- 2017
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- Publication type:
- journal article
Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms.
- Published in:
- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 10, p. 1, doi. 10.1002/mgg3.1809
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- Publication type:
- Article
Expectation versus Reality: The Impact of Utility on Emotional Outcomes after Returning Individualized Genetic Research Results in Pediatric Rare Disease Research, a Qualitative Interview Study.
- Published in:
- PLoS ONE, 2016, v. 11, n. 4, p. 1, doi. 10.1371/journal.pone.0153597
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- Article