Found: 26
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Aggregation of multiple sclerosis genetic risk variants in multiple and single case families.
- Published in:
- Annals of Neurology, 2011, v. 69, n. 1, p. 65, doi. 10.1002/ana.22323
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- Publication type:
- Article
Scalable approaches for generating, validating and incorporating data from high-throughput functional assays to improve clinical variant classification.
- Published in:
- Human Genetics, 2024, v. 143, n. 8, p. 995, doi. 10.1007/s00439-024-02691-0
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- Publication type:
- Article
Genetic Modification of the Schisis Phenotype in a Mouse Model of X-Linked Retinoschisis.
- Published in:
- Genetics, 2008, v. 178, n. 3, p. 1785, doi. 10.1534/genetics.107.084905
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- Publication type:
- Article
SMA Identified: Clinical and Molecular Findings From a Sponsored Testing Program for Spinal Muscular Atrophy in More Than 2,000 Individuals.
- Published in:
- Frontiers in Neurology, 2021, v. 11, p. N.PAG, doi. 10.3389/fneur.2021.663911
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- Publication type:
- Article
When Patients Write the Guidelines: Patient Panel Recommendations for the Treatment of Rheumatoid Arthritis.
- Published in:
- 2016
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- Publication type:
- journal article
Growing Community: The Impact of the Stephanie Alexander Kitchen Garden Program on the Social and Learning Environment in Primary Schools.
- Published in:
- 2012
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- Publication type:
- Journal Article
Jeffrey's insights: Jeffrey Modell Foundation's global genetic sequencing pilot program to identify specific primary immunodeficiency defects to optimize disease management and treatment.
- Published in:
- Immunologic Research, 2020, v. 68, n. 3, p. 126, doi. 10.1007/s12026-020-09131-x
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- Publication type:
- Article
Cover, Volume 43, Issue 2.
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- Human Mutation, 2022, v. 43, n. 2, p. i, doi. 10.1002/humu.24334
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- Publication type:
- Article
Novel PHEX gene locus‐specific database: Comprehensive characterization of vast number of variants associated with X‐linked hypophosphatemia (XLH).
- Published in:
- Human Mutation, 2022, v. 43, n. 2, p. 143, doi. 10.1002/humu.24296
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- Publication type:
- Article
Rates and Classification of Variants of Uncertain Significance in Hereditary Disease Genetic Testing.
- Published in:
- JAMA Network Open, 2023, v. 6, n. 10, p. e2339571, doi. 10.1001/jamanetworkopen.2023.39571
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- Publication type:
- Article
Subfertility and growth restriction in a new galactose-1 phosphate uridylyltransferase (GALT) - deficient mouse model.
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- European Journal of Human Genetics, 2014, v. 22, n. 10, p. 1172, doi. 10.1038/ejhg.2014.12
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- Publication type:
- Article
Prioritizing genes for systematic variant effect mapping.
- Published in:
- Bioinformatics, 2020, v. 36, n. 22/23, p. 5448, doi. 10.1093/bioinformatics/btaa1008
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- Publication type:
- Article
Scalable detection of technically challenging variants through modified next‐generation sequencing.
- Published in:
- Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 12, p. 1, doi. 10.1002/mgg3.2072
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- Publication type:
- Article
The nob2 mouse, a null mutation in Cacna1f: Anatomical and functional abnormalities in the outer retina and their consequences on ganglion cell visual responses.
- Published in:
- Visual Neuroscience, 2006, v. 23, n. 1, p. 11, doi. 10.1017/s095252380623102x
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- Publication type:
- Article
Global Expansion of Jeffrey's Insights: Jeffrey Modell Foundation's Genetic Sequencing Program for Primary Immunodeficiency.
- Published in:
- Frontiers in Immunology, 2022, v. 13, p. 1, doi. 10.3389/fimmu.2022.906540
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- Publication type:
- Article
Molecular Diagnoses of X‐Linked and Other Genetic Hypophosphatemias: Results From a Sponsored Genetic Testing Program.
- Published in:
- Journal of Bone & Mineral Research, 2022, v. 37, n. 2, p. 202, doi. 10.1002/jbmr.4454
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- Publication type:
- Article
Volunteering in a School Kitchen Garden Program: Cooking Up Confidence, Capabilities, and Connections!
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- Voluntas: International Journal of Voluntary & Nonprofit Organizations, 2014, v. 25, n. 1, p. 225, doi. 10.1007/s11266-012-9334-5
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- Publication type:
- Article
Possible precision medicine implications from genetic testing using combined detection of sequence and intragenic copy number variants in a large cohort with childhood epilepsy.
- Published in:
- Epilepsia Open, 2019, v. 4, n. 3, p. 397, doi. 10.1002/epi4.12348
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- Publication type:
- Article
Cover Image, Volume 193, Number 3, September 2023.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2023, v. 193, n. 3, p. 1, doi. 10.1002/ajmg.c.31982
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- Publication type:
- Article
Applications of artificial intelligence in clinical laboratory genomics.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2023, v. 193, n. 3, p. 1, doi. 10.1002/ajmg.c.32057
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- Publication type:
- Article
Value of genetic testing for pediatric epilepsy: Driving earlier diagnosis of ceroid lipofuscinosis type 2 Batten disease.
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- Epilepsia (Series 4), 2022, v. 63, n. 7, p. e68, doi. 10.1111/epi.17269
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- Publication type:
- Article
Cluster randomised trial of a school-community child health promotion and obesity prevention intervention: findings from the evaluation of fun 'n healthy in Moreland!
- Published in:
- 2017
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- Publication type:
- journal article
Systematic use of phenotype evidence in clinical genetic testing reduces the frequency of variants of uncertain significance.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 9, p. 2642, doi. 10.1002/ajmg.a.62779
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- Publication type:
- Article
Severe SOPH syndrome due to a novel NBAS mutation in a 27‐year‐old woman—Review of this pleiotropic, autosomal recessive disorder: Mystery solved after two decades.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 7, p. 1767, doi. 10.1002/ajmg.a.61597
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- Publication type:
- Article
Sequencing of the IL6 gene in a case--control study of cerebral palsy in children.
- Published in:
- BMC Medical Genetics, 2013, v. 14, n. 1, p. 1, doi. 10.1186/1471-2350-14-126
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- Publication type:
- Article
Treatment with a Small Molecule Mutant IDH1 Inhibitor Suppresses Tumorigenic Activity and Decreases Production of the Oncometabolite 2-Hydroxyglutarate in Human Chondrosarcoma Cells.
- Published in:
- PLoS ONE, 2015, v. 10, n. 9, p. 1, doi. 10.1371/journal.pone.0133813
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- Publication type:
- Article