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Molecular diagnostic yield for Blau syndrome in previously diagnosed juvenile idiopathic arthritis with uveitis or cutaneous lesions.
- Published in:
- Rheumatology, 2024, v. 63, p. SI260, doi. 10.1093/rheumatology/kead596
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- Article
ERCC3 Gene Associated with Breast Cancer: A Genetic and Bioinformatic Study.
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- Breast Journal, 2024, v. 2024, p. 1, doi. 10.1155/2024/7278636
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- Article
Economic Evaluation of Population-Based BRCA1 and BRCA2 Testing in Canada.
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- JAMA Network Open, 2024, v. 7, n. 9, p. e2432725, doi. 10.1001/jamanetworkopen.2024.32725
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- Article
Uptake of Cancer Genetic Services for Chatbot vs Standard-of-Care Delivery Models: The BRIDGE Randomized Clinical Trial.
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- JAMA Network Open, 2024, v. 7, n. 9, p. e2432143, doi. 10.1001/jamanetworkopen.2024.32143
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- Article
HIV drug resistance: analysis of viral genotypes and mutation loci in people living with HIV in Chongqing, China (2016–2023).
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- AIDS Research & Therapy, 2024, v. 21, n. 1, p. 1, doi. 10.1186/s12981-024-00646-z
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- Article
Congenital Diarrhoeas and Enteropathies.
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- Nutrients, 2024, v. 16, n. 17, p. 2971, doi. 10.3390/nu16172971
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- Article
A Dietary Intervention in Adults with Overweight or Obesity Leads to Weight Loss Irrespective of Macronutrient Composition.
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- Nutrients, 2024, v. 16, n. 17, p. 2842, doi. 10.3390/nu16172842
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- Article
Mutation Spectrum Comparison between Benign Breast Lesion Cohort, Unselected Cancer Cohort and High-Risk Breast Cancer Cohort.
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- Cancers, 2024, v. 16, n. 17, p. 3066, doi. 10.3390/cancers16173066
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- Article
Prevalence of Germline Pathogenic Variants in Renal Cancer Predisposition Genes in a Population-Based Study of Renal Cell Carcinoma.
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- Cancers, 2024, v. 16, n. 17, p. 2985, doi. 10.3390/cancers16172985
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- Article
Algorithm of genetic diagnosis for patients with head and neck paraganglioma—update.
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- Frontiers in Neurology, 2024, p. 1, doi. 10.3389/fneur.2024.1437027
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- Article
Estimating carrier rates and prevalence of porphyria-associated gene variants in the Chinese population based on genetic databases.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03287-7
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- Article
Genetically predicted effects of 10 sleep phenotypes on revision of knee arthroplasty: a mendelian randomization study.
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- Journal of Orthopaedic Surgery & Research, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13018-024-05031-0
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- Article
Laryngeal features in Lipoid proteinosis: a systematic review and meta-analysis of individual participant data.
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- European Archives of Oto-Rhino-Laryngology, 2024, v. 281, n. 9, p. 4555, doi. 10.1007/s00405-024-08713-x
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- Article
DNA concentrations in amniotic fluid according to gestational age and fetal sex: data from 2573 samples.
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- Archives of Gynecology & Obstetrics, 2024, v. 310, n. 4, p. 1981, doi. 10.1007/s00404-024-07698-6
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- Article
Intermediate type cystinosis with a novel CTNS variant in a child: a case report.
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- Journal of Rare Diseases, 2024, v. 3, n. 1, p. 1, doi. 10.1007/s44162-024-00053-y
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- Article
Phenotypic and genetic characterization of children with Wilson Disease from Northeast China.
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- BMC Pediatrics, 2024, v. 24, n. 1, p. 1, doi. 10.1186/s12887-024-05045-x
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- Article
Contemporary Outcomes in Fetuses Diagnosed with Vascular Rings.
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- Pediatric Cardiology, 2024, v. 45, n. 7, p. 1559, doi. 10.1007/s00246-023-03219-5
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- Article
Molecular diagnostics (MDx) testing expands while lab supply shortages shrink.
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- 2023
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- Publication type:
- Product Review
Key points of intersection in diagnosis and treatment of cancer: Linking microbiology and technology with cancer diagnosis and treatment.
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- Medical Laboratory Observer (MLO), 2023, v. 55, n. 11, p. 16
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- Article
Clinical Trial Catalyst: Navigator's Role in Understanding Molecular Profiling and Locating/Identifying Clinical Trials.
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- Journal of Oncology Navigation & Survivorship, 2024, v. 15, n. 9, p. 258
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- Article
A triple SLC12A3 heterozygous mutations in Gitelman syndrome with renal calculi.
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- Hippokratia, 2023, v. 27, n. 2, p. 64
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- Article
Syntaxin-6 delays prion protein fibril formation and prolongs the presence of toxic aggregation intermediates.
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- eLife, 2024, p. 1, doi. 10.7554/eLife.83320
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- Article
Reproductive genetic carrier screening in pregnancy: improving health outcomes and expanding access.
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- Journal of Perinatal Medicine, 2024, v. 52, n. 7, p. 688, doi. 10.1515/jpm-2024-0059
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- Article
Prevalence of germline variants in Brazilian pancreatic carcinoma patients.
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- Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-71884-4
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- Article
A comprehensive analysis of POLE/POLD1 genomic alterations in colorectal cancer.
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- Oncologist, 2024, v. 29, n. 9, p. e1224, doi. 10.1093/oncolo/oyae098
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- Article
From ownership to custodianship of tumor biopsy tissue in genomic testing: a mixed methods study of patient views.
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- Oncologist, 2024, v. 29, n. 9, p. e1169, doi. 10.1093/oncolo/oyae074
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- Article
The Evolution of Clinical Genomics: Interview with Dr. Martin Somerville.
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- University of Toronto Medical Journal, 2024, v. 101, n. 2, p. 52
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- Article
Histone variant H2A.Z is needed for efficient transcription-coupled NER and genome integrity in UV challenged yeast cells.
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- PLoS Genetics, 2024, v. 20, n. 9, p. 1, doi. 10.1371/journal.pgen.1011300
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- Article
Biotin-tiamin-reszponzív basalis ganglion betegség, avagy ritka, de potenciálisan kezelhetõ kórkép az akut progrediáló encephalopathia hátterében.
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- Gyermekgyógyászat, 2024, v. 75, n. 4, p. 271
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- Article
A cerebralis foláthiányról egy neurodegeneratív betegséget okozó folátreceptor génhiba kapcsán.
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- Gyermekgyógyászat, 2024, v. 75, n. 4, p. 267
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- Article
HIV Subtypes and Drug-resistance-associated Mutations in US Blood Donors, 2015–2020.
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- Open Forum Infectious Diseases, 2024, v. 11, n. 7, p. 1, doi. 10.1093/ofid/ofae343
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- Article
Anthropometric measurements as a key diagnostic tool for familial partial lipodystrophy in women.
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- Diabetology & Metabolic Syndrome, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13098-024-01413-w
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- Article
The Clinical and Genetic Landscape of Hereditary Cancer: Experience from a Single Clinical Diagnostic Laboratory.
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- Cancer Genomics & Proteomics (1109-6535), 2024, v. 21, n. 5, p. 448, doi. 10.21873/cgp.20463
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- Article
EP18.36: A new fetal sonographic characteristics of Baraitser–Winter cerebrofrontofacial syndrome with ACTB mutation: pulmonary stenosis.
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- Ultrasound in Obstetrics & Gynecology, 2024, v. 64, p. 292, doi. 10.1002/uog.28772
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- Article
EP09.86: Left atrial isomerism with normal heart and interrupted inferior vena cava: the good among the bad?
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- Ultrasound in Obstetrics & Gynecology, 2024, v. 64, p. 218, doi. 10.1002/uog.28467
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- Article
EP07.05: Prenatal diagnosis of geleophysic dysplasia with ADAMTSL2 mutations.
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- Ultrasound in Obstetrics & Gynecology, 2024, v. 64, p. 169, doi. 10.1002/uog.28254
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- Article
EP07.02: Management and outcome of fetal abdominal cysts in the first trimester: systematic review of the literature.
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- Ultrasound in Obstetrics & Gynecology, 2024, v. 64, p. 168, doi. 10.1002/uog.28251
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- Article
EP06.05: Prenatal ultrasound findings of congenital disorders of glycosylation type Id: a case report.
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- Ultrasound in Obstetrics & Gynecology, 2024, v. 64, p. 149, doi. 10.1002/uog.28179
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- Article
EP05.29: Abnormal Sylvian fissure operculisation in Chiari II: correlation with neuropathological data in children with intrauterine spina bifida repair.
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- Ultrasound in Obstetrics & Gynecology, 2024, v. 64, p. 140, doi. 10.1002/uog.28132
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- Article
EP05.16: Narrow CSP in second trimester and its implications for prenatal counselling.
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- Ultrasound in Obstetrics & Gynecology, 2024, v. 64, p. 137, doi. 10.1002/uog.28121
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- Article
OP04.01: Chromosomal aberrations in fetuses with isolated muscular ventricular septum defects: a retrospective study and meta‐analysis.
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- Ultrasound in Obstetrics & Gynecology, 2024, v. 64, p. 67, doi. 10.1002/uog.27898
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- Article
The Phenotypic Range of Mitochondrial Myopathies and Disorders is More Diverse Than Expected.
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- Annals of Indian Academy of Neurology, 2024, v. 27, n. 4, p. 452, doi. 10.4103/aian.aian_76_24
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- Article
Spastic Paraparesis in Donnai--Barrow Syndrome: A Rare Case Report from India.
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- Annals of Indian Academy of Neurology, 2024, v. 27, n. 4, p. 441, doi. 10.4103/aian.aian_962_23
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- Article
Genetic Analysis of De Novo Variants in KMT2A mixed-lineage leukemia Identified in a Family of Wiedermann-Steiner Syndromes.
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- Annals of Indian Academy of Neurology, 2024, v. 27, n. 4, p. 455, doi. 10.4103/aian.aian_108_24
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- Article
Renal Amyloidosis in a Child with Recessive Dystrophic Epidermolysis Bullosa Due to a Novel Variant in COL7A1 Gene.
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- Indian Journal of Nephrology, 2024, v. 34, n. 4, p. 400, doi. 10.4103/ijn.IJN_26_21
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- Article
Host genetics and gut microbiota synergistically regulate feed utilization in egg-type chickens.
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- Journal of Animal Science & Biotechnology, 2024, v. 15, n. 1, p. 1, doi. 10.1186/s40104-024-01076-7
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- Publication type:
- Article
Současné standardy molekulárně-patologického testování nádorů centrálního nervového systému.
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- Neurologie Pro Praxi, 2024, v. 25, n. 4, p. 282, doi. 10.36290/neu.2024.016
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- Article
The identification of a novel compound heterozygous mutation in hereditary human coagulation factor VII deficiency following a bamboo leaf green snake bite.
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- Laboratory Medicine, 2024, v. 5, n. 5, p. 645, doi. 10.1093/labmed/lmae012
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- Article
Genetic testing in early-onset atrial fibrillation.
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- European Heart Journal, 2024, v. 45, n. 34, p. 3111, doi. 10.1093/eurheartj/ehae298
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- Article
Multiple acyl‐Coa dehydrogenase deficiency: an underdiagnosed disorder in adults.
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- Internal Medicine Journal, 2024, v. 54, n. 9, p. 1567, doi. 10.1111/imj.16473
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- Article