Works matching Genetic disorder diagnosis
Results: 3360
Editorial: Application of Omics Approaches to the Diagnosis of Genetic Neurological Disorders.
- Published in:
- 2021
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- Publication type:
- Editorial
Genetic Disorders and the Fetus: Diagnosis, Prevention, and Treatment.
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- 2011
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- Publication type:
- Book Review
Analysis of Attitude of Public Towards Prenatal Screening for Diagnosis of Genetic Disorders.
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- Egyptian Academic Journal of Biological Sciences. B, Zoology, 2023, v. 15, n. 1, p. 287, doi. 10.21608/EAJBSZ.2023.306575
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- Publication type:
- Article
Impacts of massively parallel sequencing for genetic diagnosis of neuromuscular disorders.
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- Acta Neuropathologica, 2013, v. 125, n. 2, p. 173, doi. 10.1007/s00401-012-1072-7
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- Publication type:
- Article
High Rates of Genetic Diagnosis in Psychiatric Patients with and without Neurodevelopmental Disorders: Toward Improved Genetic Diagnosis in Psychiatric Populations.
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- Canadian Journal of Psychiatry, 2020, v. 65, n. 12, p. 865, doi. 10.1177/0706743720931234
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- Publication type:
- Article
G3DMS: Design and Implementation of a Data Management System for the Diagnosis of Genetic Disorders.
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- Healthcare (2227-9032), 2020, v. 8, n. 3, p. 196, doi. 10.3390/healthcare8030196
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- Publication type:
- Article
Preimplantation genetic diagnosis to prevent genetic disorders in children.
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- British Journal of Nursing, 2005, v. 14, n. 2, p. 64, doi. 10.12968/bjon.2005.14.2.17433
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- Publication type:
- Article
Diagnostic yield of clinical exome sequencing as a first-tier genetic test for the diagnosis of genetic disorders in pediatric patients: results from a referral center study.
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- Human Genetics, 2022, v. 141, n. 7, p. 1269, doi. 10.1007/s00439-021-02358-0
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- Publication type:
- Article
Genomic Testing for Diagnosis of Genetic Disorders in Children: Chromosomal Microarray and Next—Generation Sequencing.
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- Indian Pediatrics, 2020, v. 57, n. 6, p. 549, doi. 10.1007/s13312-020-1853-3
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- Publication type:
- Article
Spot Diagnosis of a Daedalian Genetic Disorder: Bardet-Biedl Syndrome.
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- Journal of Clinical & Diagnostic Research, 2016, v. 10, n. 5, p. 1, doi. 10.7860/JCDR/2016/18321.7754
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- Publication type:
- Article
Prenatal Genetic diagnosis in Neurological Disorders and its use in prevention of neurological illness; our experience.
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- 2007
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- Publication type:
- Abstract
Genetic Diagnosis in Movement Disorders. Use of Whole-Exome Sequencing in Clinical Practice.
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- Tremor & Other Hyperkinetic Movements, 2022, v. 12, p. 1, doi. 10.5334/tohm.678
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- Publication type:
- Article
Worldwide cohort study of 46, XY differences/disorders of sex development genetic diagnoses: geographic and ethnic differences in variants.
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- Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2024.1387598
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- Publication type:
- Article
Clinical diagnosis of genetic disorders at both single-nucleotide and chromosomal levels based on BGISEQ-500 platform.
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- Human Genome Variation, 2023, v. 10, n. 1, p. 1, doi. 10.1038/s41439-023-00238-9
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- Publication type:
- Article
Economic evaluation of next‐generation sequencing techniques in diagnosis of genetic disorders: A systematic review.
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- Clinical Genetics, 2023, v. 103, n. 5, p. 513, doi. 10.1111/cge.14313
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- Publication type:
- Article
Technological Improvements in the Genetic Diagnosis of Rett Syndrome Spectrum Disorders.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 19, p. 10375, doi. 10.3390/ijms221910375
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- Publication type:
- Article
Comprehensive assessment of the genetic characteristics of small for gestational age newborns in NICU: from diagnosis of genetic disorders to prediction of prognosis.
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- Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01268-2
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- Publication type:
- Article
유전성 질환에서 차세대 염기서열 분석의 임상적 활 용 및 가족 검사를 위한 제언.
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- Journal of the Korean Medical Association / Taehan Uisa Hyophoe Chi, 2023, v. 66, n. 10, p. 613, doi. 10.5124/jkma.2023.66.10.613
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- Publication type:
- Article
Preimplantation genetic diagnosis of single gene disorders: outcome from over 200 cases.
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- Reproductive BioMedicine Online (Reproductive Healthcare Limited), 2008, v. 16, p. S-30
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- Publication type:
- Article
Genomics in nephrology: identifying informatics opportunities to improve diagnosis of genetic kidney disorders using a human-centered design approach.
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- Journal of the American Medical Informatics Association, 2024, v. 31, n. 6, p. 1247, doi. 10.1093/jamia/ocae053
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- Publication type:
- Article
Health Professionals' Preferences for Next-Generation Sequencing in the Diagnosis of Suspected Genetic Disorders in the Paediatric Population.
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- Journal of Personalized Medicine, 2025, v. 15, n. 1, p. 25, doi. 10.3390/jpm15010025
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- Publication type:
- Article
Genetic Diagnosis in a Cohort of Adult Patients with Inherited Metabolic Diseases: A Single-Center Experience.
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- Biomolecules (2218-273X), 2022, v. 12, n. 7, p. N.PAG, doi. 10.3390/biom12070920
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- Publication type:
- Article
diseaseGPS: auxiliary diagnostic system for genetic disorders based on genotype and phenotype.
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- Bioinformatics, 2023, v. 39, n. 9, p. 1, doi. 10.1093/bioinformatics/btad517
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- Publication type:
- Article
A Comprehensive Approach to Design, Selection and Optimization of Short Tandem Repeat Used in Preimplantation Genetic Diagnosis of Single Gene Disorders.
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- Knowledge & Health / Dānish va Tandurustī, 2015, v. 10, n. 1, p. 31, doi. 10.1234/knh.v0i0.506
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- Publication type:
- Article
Advances in genetic diagnosis of neurological disorders.
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- Acta Neurologica Scandinavica, 2014, v. 129, p. 20, doi. 10.1111/ane.12232
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- Publication type:
- Article
Identification of the first homozygous 1‐bp deletion in <italic>GDF9</italic> gene leading to primary ovarian insufficiency by using targeted massively parallel sequencing.
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- Clinical Genetics, 2018, v. 93, n. 2, p. 408, doi. 10.1111/cge.13156
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- Publication type:
- Article
Value of a café‐au‐lait macules screening clinic: Experience from The Hospital for Sick Children in Toronto.
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- Pediatric Dermatology, 2022, v. 39, n. 2, p. 205, doi. 10.1111/pde.14947
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- Publication type:
- Article
Familial and genetic association with neurodevelopmental disorders caused by a heterozygous variant in the SRRM2 gene.
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- Frontiers in Endocrinology, 2023, p. 1, doi. 10.3389/fendo.2023.1240168
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- Publication type:
- Article
Cytogenetics: Past, Present And Future.
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- Malaysian Journal of Medical Sciences, 2009, v. 16, n. 2, p. 4
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- Publication type:
- Article
A novel two-staged deep learning based workflow for analyzable metaphase detection.
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- Multimedia Tools & Applications, 2024, v. 83, n. 17, p. 52305, doi. 10.1007/s11042-023-17509-w
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- Publication type:
- Article
SUMMER: an integrated nanopore sequencing pipeline for variants detection and clinical annotation on the human genome.
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- Functional & Integrative Genomics, 2025, v. 25, n. 1, p. 1, doi. 10.1007/s10142-025-01534-z
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- Article
Problems of prenatal testing.
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- Nature, 1985, p. 211, doi. 10.1038/314211a0
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- Publication type:
- Article
Next-Generation Sequencing-Based Genetic Diagnostic Strategies of Inherited Kidney Diseases.
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- Kidney Diseases, 2021, v. 7, n. 6, p. 425, doi. 10.1159/000519095
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- Publication type:
- Article
Genetic Hair Disorders: A Review.
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- Dermatology & Therapy, 2019, v. 9, n. 3, p. 421, doi. 10.1007/s13555-019-0313-2
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- Publication type:
- Article
A Review of Health Economic Studies Comparing Traditional and Massively Parallel Sequencing Diagnostic Pathways for Suspected Genetic Disorders.
- Published in:
- 2020
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- Publication type:
- journal article
A case report of X-linked CDKL5 gene variant in monozygotic twins associated with developmental and epileptic encephalopathy-2.
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- Egyptian Journal of Neurology, Psychiatry & Neurosurgery, 2024, v. 60, p. 1, doi. 10.1186/s41983-024-00792-1
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- Publication type:
- Article
The potential diagnostic yield of whole exome sequencing in pregnancies complicated by fetal ultrasound anomalies.
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- Acta Obstetricia et Gynecologica Scandinavica, 2021, v. 100, n. 6, p. 1106, doi. 10.1111/aogs.14053
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- Publication type:
- Article
Further classification of neutrophil non-muscle myosin heavy chain-IIA localization for efficient genetic diagnosis of MYH9 disorders.
- Published in:
- 2018
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- Publication type:
- Letter
CRISPR/Cas9 genome editing approaches for psychiatric research.
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- Brazilian Journal of Psychiatry / Revista Brasileira de Psiquiatria, 2023, v. 45, n. 2, p. 137, doi. 10.47626/1516-4446-2022-2913
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- Publication type:
- Article
Whole genome sequencing diagnostic yield for paediatric patients with suspected genetic disorders: systematic review, meta-analysis, and GRADE assessment.
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- Archives of Public Health, 2023, v. 81, n. 1, p. 1, doi. 10.1186/s13690-023-01112-4
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- Publication type:
- Article
Three novel mutations in CYB5R3 gene causing NADH-cytochrome b5 reductase enzyme deficiency leads to recessive congenital methaemoglobinemia.
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- Molecular Biology Reports, 2022, v. 49, n. 3, p. 2141, doi. 10.1007/s11033-021-07031-3
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- Publication type:
- Article
Aubrey Milunsky (Ed): Genetic disorders and the fetus. Diagnosis, prevention and treatment (fifth edition). The Johns Hopkins University Press (2004), ISBN 0-8018-7928-0, hardcover, £160.50.
- Published in:
- 2005
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- Publication type:
- Book Review
Integrating rapid exome sequencing into NICU clinical care after a pilot research study.
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- NPJ Genomic Medicine, 2022, v. 7, n. 1, p. 1, doi. 10.1038/s41525-022-00326-9
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- Publication type:
- Article
Performance of Dysmorphology‐Based Screening for Genetic Disorders in Pediatric Congenital Heart Disease Supports Wider Genetic Testing.
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- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 11, p. 1, doi. 10.1002/mgg3.70040
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- Publication type:
- Article
Aberrant splicing caused by a novel KMT2A variant in Wiedemann–Steiner syndrome.
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- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 3, p. 1, doi. 10.1002/mgg3.2415
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- Publication type:
- Article
Recessive multiple epiphyseal dysplasia and Stargardt disease in two sisters.
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- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 4, p. 1, doi. 10.1002/mgg3.1630
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- Publication type:
- Article
Matching variants for functional characterization of genetic variants.
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- G3: Genes | Genomes | Genetics, 2023, v. 13, n. 12, p. 1, doi. 10.1093/g3journal/jkad227
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- Publication type:
- Article
Cytogenetic Analysis for Suspected Chromosomal Anomalies- A Retrospective Study.
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- Journal of Clinical & Diagnostic Research, 2020, v. 14, n. 5, p. 1, doi. 10.7860/JCDR/2020/43678.13688
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- Publication type:
- Article
Prevalence of Inborn Errors of Metabolism in Neonates.
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- Journal of Clinical & Diagnostic Research, 2018, v. 12, n. 5, p. 7, doi. 10.7860/JCDR/2018/30035.11515
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- Publication type:
- Article
ADHD in Patients With Bipolar Disorder: Genetics, Diagnosis, and Treatment.
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- Psychiatric Times, 2021, v. 38, n. 1, p. 25
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- Publication type:
- Article