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Chatbots & artificial intelligence to scale genetic information delivery.
- Published in:
- Journal of Genetic Counseling, 2021, v. 30, n. 1, p. 7, doi. 10.1002/jgc4.1359
- By:
- Publication type:
- Article
Augmentation of phenotype in a transgenic Parkinson mouse heterozygous for a Gaucher mutation.
- Published in:
- Brain: A Journal of Neurology, 2014, v. 137, n. 12, p. 3235, doi. 10.1093/brain/awu291
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- Publication type:
- Article
Ascorbic-acid transporter Slc23a1 is essential for vitamin C transport into the brain and for perinatal survival.
- Published in:
- Nature Medicine, 2002, v. 8, n. 5, p. 514, doi. 10.1038/0502-514
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- Publication type:
- Article
Cerebrospinal fluid-based kinetic biomarkers of axonal transport in monitoring neurodegeneration.
- Published in:
- Journal of Clinical Investigation, 2012, v. 122, n. 9, p. 3159, doi. 10.1172/JCI64575
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- Publication type:
- Article
Vitamin C transporter Slc23a1 links renal reabsorption, vitamin C tissue accumulation, and perinatal survival in mice.
- Published in:
- 2010
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- Publication type:
- journal article
A tribute to Richard S. Spielman.
- Published in:
- 2009
- By:
- Publication type:
- Obituary
Mining yeast in silico unearths a golden nugget for mitochondrial biology.
- Published in:
- 2005
- By:
- Publication type:
- journal 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
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
Underdiagnosis of Hereditary Breast and Ovarian Cancer in Medicare Patients: Genetic Testing Criteria Miss the Mark.
- Published in:
- Annals of Surgical Oncology: An Oncology Journal for Surgeons, 2018, v. 25, n. 10, p. 2925, doi. 10.1245/s10434-018-6621-4
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- Publication type:
- Article
Cloning and Genomic Organization of the Mouse Gene Slc23a1 Encoding a Vitamin C Transporter.
- Published in:
- DNA Research, 2000, v. 7, n. 6, p. 339, doi. 10.1093/dnares/7.6.339
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- Publication type:
- Article
Contig Map of the Parkinson's Disease Region on 4q21-q23.
- Published in:
- DNA Research, 1998, v. 5, n. 1, p. 19, doi. 10.1093/dnares/5.1.19
- By:
- Publication type:
- Article
Phosphoinositide profiling in complex lipid mixtures using electrospray ionization mass spectrometry.
- Published in:
- Nature Biotechnology, 2003, v. 21, n. 7, p. 813, doi. 10.1038/nbt837
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- Publication type:
- Article
First report of prenatal biochemical diagnosis of Lowe syndrome.
- Published in:
- 1998
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- Publication type:
- journal article
Comprehensive Screening of a North American Parkinson’s Disease Cohort for LRRK2 Mutation.
- Published in:
- Neurodegenerative Diseases, 2007, v. 4, n. 5, p. 386, doi. 10.1159/000105160
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- Publication type:
- Article
Implications of fragile X expression in normal males for the nature of the mutation.
- Published in:
- Nature, 1986, v. 324, n. 6093, p. 161, doi. 10.1038/324161a0
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- Publication type:
- Article
Comparison of Germline Genetic Testing Before and After a Medical Policy Covering Universal Testing Among Patients With Colorectal Cancer.
- Published in:
- JAMA Network Open, 2022, v. 5, n. 10, p. e2238167, doi. 10.1001/jamanetworkopen.2022.38167
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- Publication type:
- Article
Functional analysis of intra-allelic variation at NACP-Rep1 in the α-synuclein gene.
- Published in:
- Human Genetics, 2003, v. 113, n. 5, p. 426, doi. 10.1007/s00439-003-1002-9
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- Publication type:
- Article
Genetic Testing Before Anticoagulation? A Systematic Review of Pharmacogenetic Dosing of Warfarin.
- Published in:
- 2009
- By:
- Publication type:
- Correction Notice
Genetic testing before anticoagulation? A systematic review of pharmacogenetic dosing of warfarin.
- Published in:
- 2009
- By:
- Publication type:
- journal article
Germline Genetic Testing in Unselected Squamous and Non‐Squamous Head and Neck Cancers.
- Published in:
- Laryngoscope, 2023, v. 133, n. 12, p. 3378, doi. 10.1002/lary.30720
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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
Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice.
- Published in:
- JAMA Neurology, 2022, v. 79, n. 12, p. 1267, doi. 10.1001/jamaneurol.2022.3651
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- Publication type:
- Article
Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2.
- Published in:
- 2016
- By:
- Publication type:
- journal article
QTc Prolongation and Family History of Sudden Death in a Patient with Desmin Cardiomyopathy.
- Published in:
- Pacing & Clinical Electrophysiology, 2011, v. 34, n. 12, p. e105, doi. 10.1111/j.1540-8159.2010.02826.x
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- Publication type:
- Article
Comprehensive Genetic Testing for Pediatric Hypertrophic Cardiomyopathy Reveals Clinical Management Opportunities and Syndromic Conditions.
- Published in:
- Pediatric Cardiology, 2022, v. 43, n. 3, p. 616, doi. 10.1007/s00246-021-02764-1
- By:
- Publication type:
- Article
Regulation of Phagocytosis in Dictyostelium by the Inositol 5-Phosphatase OCRL Homolog Dd5P4.
- Published in:
- Traffic, 2007, v. 8, n. 5, p. 618, doi. 10.1111/j.1600-0854.2007.00546.x
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- Publication type:
- Article
Clinical and positron emission tomography of Parkinson's disease caused by LRRK2.
- Published in:
- Annals of Neurology, 2005, v. 57, n. 3, p. 453
- By:
- Publication type:
- Article
Impaired adrenal catecholamine system function in mice with deficiency of the ascorbic acid transporter (SVCT2).
- Published in:
- FASEB Journal, 2003, v. 17, n. 13, p. 1928, doi. 10.1096/fj.02-1167fje
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- Publication type:
- Article
Genetics in mainstream medicine: Finally within grasp to influence healthcare globally.
- Published in:
- Molecular Genetics & Genomic Medicine, 2018, v. 6, n. 4, p. 473, doi. 10.1002/mgg3.415
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- Publication type:
- Article
OCRL deficiency impairs endolysosomal function in a humanized mouse model for Lowe syndrome and Dent disease.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 12, p. 1931, doi. 10.1093/hmg/ddy449
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- Publication type:
- Article
A shower of second hit events as the cause of multifocal renal cell carcinoma in tuberous sclerosis complex.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 7, p. 1836, doi. 10.1093/hmg/ddu597
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- Publication type:
- Article
Distinguishing Variant Pathogenicity From Genetic Diagnosis: How to Know Whether a Variant Causes a Condition.
- Published in:
- JAMA: Journal of the American Medical Association, 2018, v. 320, n. 18, p. 1929, doi. 10.1001/jama.2018.14900
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- Publication type:
- Article
Research Ethics Recommendations for Whole-Genome Research: Consensus Statement.
- Published in:
- PLoS Biology, 2008, v. 6, n. 3, p. e73, doi. 10.1371/journal.pbio.0060073
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- Publication type:
- Article
Species-specific difference in expression and splice-site choice in Inpp5b, an inositol polyphosphate 5-phosphatase paralogous to the enzyme deficient in Lowe Syndrome.
- Published in:
- Mammalian Genome, 2010, v. 21, n. 9/10, p. 458, doi. 10.1007/s00335-010-9281-7
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- Publication type:
- Article
X-inactivation analysis of embryonic lethality in Ocrl<sup> wt/−</sup>; Inpp5b<sup>−/−</sup> mice.
- Published in:
- Mammalian Genome, 2010, v. 21, n. 3/4, p. 186, doi. 10.1007/s00335-010-9255-9
- By:
- Publication type:
- Article
Yield and Utility of Germline Testing Following Tumor Sequencing in Patients With Cancer.
- Published in:
- JAMA Network Open, 2020, v. 3, n. 10, p. e2019452, doi. 10.1001/jamanetworkopen.2020.19452
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- Publication type:
- Article
The Impact of Proband Indication for Genetic Testing on the Uptake of Cascade Testing Among Relatives.
- Published in:
- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.867226
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- Publication type:
- Article
Furthering the link between the sarcomere and primary cardiomyopathies: Restrictive cardiomyopathy associated with multiple mutations in genes previously associated with hypertrophic or dilated cardiomyopathy.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 9, p. 2229, doi. 10.1002/ajmg.a.34097
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- Publication type:
- Article
Extensive enteric nervous system abnormalities in mice transgenic for artificial chromosomes containing Parkinson disease-associated α-synuclein gene mutations precede central nervous system changes.
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. 9, p. 1633, doi. 10.1093/hmg/ddq038
- By:
- Publication type:
- Article
Expansion of the Parkinson disease-associated SNCA-Rep1 allele upregulates human α-synuclein in transgenic mouse brain.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 17, p. 3274, doi. 10.1093/hmg/ddp265
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- Publication type:
- Article
Genome-Wide Association Studies, Alzheimer Disease, and Understudied Populations.
- Published in:
- 2013
- By:
- Publication type:
- Editorial
Recurrent Renal Cysts in a Transplanted Kidney.
- Published in:
- 2018
- By:
- Publication type:
- Letter to the Editor
Recurrent Renal Cysts in a Transplanted Kidney.
- Published in:
- 2018
- By:
- Publication type:
- Case Study
Reply: Expression of α-Synuclein mRNA in Parkinson's disease.
- Published in:
- Movement Disorders, 2007, v. 22, n. 7, p. 1057, doi. 10.1002/mds.21498
- By:
- Publication type:
- Article
Levels of alpha-synuclein mRNA in sporadic Parkinson disease patients.
- Published in:
- Movement Disorders, 2006, v. 21, n. 10, p. 1703, doi. 10.1002/mds.21007
- By:
- Publication type:
- Article
Putting the Parkin into Parkinson's.
- Published in:
- Nature, 1998, v. 392, n. 6676, p. 544, doi. 10.1038/33271
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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
- By:
- Publication type:
- Article
Cascade testing for hereditary cancer: comprehensive multigene panels identify unexpected actionable findings in relatives.
- Published in:
- JNCI: Journal of the National Cancer Institute, 2024, v. 116, n. 2, p. 334, doi. 10.1093/jnci/djad203
- By:
- Publication type:
- Article
Genetics of Parkinson's Disease.
- Published in:
- Human Molecular Genetics, 1997, v. 6, n. 10, p. 1687, doi. 10.1093/hmg/6.10.1687
- By:
- Publication type:
- Article