Works matching DE "GENETIC disorder diagnosis"
Results: 2787
Surveillance in Children and Adolescents with von Hippel-Lindau (VHL)-Related Pheochromocytomas and Paragangliomas: A Survey of MET and Freiburg-VHL Registries in Germany.
- Published in:
- Journal of Kidney Cancer & VHL, 2024, v. 11, n. 4, p. 1, doi. 10.15586/jkcvhl.v11i4.362
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- Publication type:
- Article
A pathogenic COL7A1 variant highlights semi-dominant inheritance in dystrophic epidermolysis bullosa.
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- BMC Medical Genomics, 2025, v. 18, n. 1, p. 1, doi. 10.1186/s12920-024-02077-1
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- Publication type:
- Article
Ontology-based expansion of virtual gene panels to improve diagnostic efficiency for rare genetic diseases.
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- BMC Medical Informatics & Decision Making, 2025, v. 25, n. 1, p. 1, doi. 10.1186/s12911-025-02910-2
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- Publication type:
- Article
Investigating knowledge and attitudes toward genetic testing and counseling among palestinians.
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- Scientific Reports, 2025, v. 15, n. 1, p. 1, doi. 10.1038/s41598-024-84733-1
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- Publication type:
- Article
Genetic Testing of Movements Disorders: A Review of Clinical Utility.
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- Tremor & Other Hyperkinetic Movements, 2024, v. 14, n. 1, p. 1, doi. 10.5334/tohm.835
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- Publication type:
- Article
Genetic testing in the European Union: does economic evaluation matter?
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- European Journal of Health Economics, 2012, v. 13, n. 5, p. 651, doi. 10.1007/s10198-011-0319-x
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- Publication type:
- Article
Genetic testing and human autonomy.
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- South African Journal of Philosophy, 2004, v. 23, n. 1, p. 69, doi. 10.4314/sajpem.v23i1.31385
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- Publication type:
- Article
Malformaciones congénitas diagnosticadas en un hospital general. Revisión de cuatro años.
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- Acta Pediatrica de Mexico, 2011, v. 32, n. 2, p. 101
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- Publication type:
- Article
Genetics.
- Published in:
- Current Medical Literature: Dermatology, 2008, v. 13, n. 3, p. 87
- Publication type:
- Article
Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay.
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- Molecular Medicine, 2022, v. 28, n. 1, p. 1, doi. 10.1186/s10020-022-00464-x
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- Publication type:
- Article
Genetic Disorders and the Fetus: Diagnosis, Prevention, and Treatment.
- Published in:
- 2011
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- Publication type:
- Book Review
Thoracic lymphangiomatosis with massive chylothorax after a tumor biopsy and with disseminated intravenous coagulation - lymphoscintigraphy, an alternative minimally invasive imaging technique: Report of a case.
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- Surgery Today, 2011, v. 41, n. 7, p. 978, doi. 10.1007/s00595-010-4383-0
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- Publication type:
- Article
Systemic and ocular associations in pediatric patients undergoing cataract surgery.
- Published in:
- Graefe's Archive of Clinical & Experimental Ophthalmology, 2023, v. 261, n. 1, p. 241, doi. 10.1007/s00417-022-05802-7
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- Publication type:
- Article
Yield of genetic evaluation in non-syndromic pediatric moyamoya patients.
- Published in:
- Child's Nervous System, 2024, v. 40, n. 3, p. 801, doi. 10.1007/s00381-023-06167-w
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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
Identification of an Association between Robinow Syndrome and Moyamoya.
- Published in:
- Pediatric Neurosurgery, 2009, v. 45, n. 1, p. 69, doi. 10.1159/000204907
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- Publication type:
- Article
Short cut to disease genes.
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- Nature, 2001, v. 414, n. 6865, p. 705, doi. 10.1038/414705a
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- Publication type:
- Article
Screening guidelines are postponed in Japan.
- Published in:
- Nature, 1997, v. 385, n. 6619, p. 763
- 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
Multimodal mechanistic signatures for neurodegenerative diseases (NeuroMMSig): a web server for mechanism enrichment.
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- Bioinformatics, 2017, v. 33, n. 22, p. 3679, doi. 10.1093/bioinformatics/btx399
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- Publication type:
- Article
Baraitser Winter Syndrome – A Rare Deep Brain Stimulation (DBS) Responsive Dystonia!
- Published in:
- 2024
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- Publication type:
- Letter
Mitochondrial membrane protein-associated neurodegeneration presenting with pure motor neuropathy: A rare case report and review of the literature.
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- Annals of Movement Disorders, 2024, v. 7, n. 2, p. 128, doi. 10.4103/aomd.aomd_3_24
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- Publication type:
- Article
A juvenile-onset case of autosomal recessive spastic ataxia of Charlevoix–Saguenay with a novel mutation in the SACS gene.
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- Annals of Movement Disorders, 2023, v. 6, n. 1, p. 36, doi. 10.4103/aomd.aomd_15_22
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- Publication type:
- Article
Atypical Presentation of Pallister--Hall Syndrome with Central Precious Puberty.
- Published in:
- 2022
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- Publication type:
- Case Study
Two anesthesias in a pediatric patient affected from undiagnosed Angelman syndrome.
- Published in:
- Pediatric Anesthesia & Critical Care Journal (PACCJ), 2013, v. 1, n. 1, p. 6, doi. 10.14587/paccj.2013.2
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- Publication type:
- Article
Clinical pharmacogenetic analysis in 5,001 individuals with diagnostic Exome Sequencing data.
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- NPJ Genomic Medicine, 2022, v. 7, n. 1, p. 1, doi. 10.1038/s41525-022-00283-3
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- Publication type:
- Article
Whole genome sequencing and in vitro splice assays reveal genetic causes for inherited retinal diseases.
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- NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00261-1
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- Publication type:
- Article
Evaluation of the results of patients who applied to the Çukurova University, Medical Genetics Department for prenatal diagnosis and determination of genetic counseling principles.
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- Turkish Journal of Medical Sciences, 2021, v. 51, n. 2, p. 657, doi. 10.3906/sag-2004-298
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- Publication type:
- Article
Cell-free DNA from plasma as a promising alternative for detection of gene mutations in patients with Maffucci syndrome.
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- Hereditas, 2022, v. 159, n. 1, p. 1, doi. 10.1186/s41065-022-00223-2
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- Publication type:
- Article
GENETIC DIAGNOSIS OF THE RUST-RED FLOUR BEETLE TRIBOLIUM CASTANEUM (HERBST) (COLEOPTERA:) AND ITS MORTALITY, ATTRACTION AND REPELLING EFFECT OF SOME VEGETABLE OILS.
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- International Journal of Agricultural & Statistical Sciences, 2021, v. 17, p. 1867
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- Publication type:
- Article
Genetic research of inherited peripheral neuropathies.
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- Neurology & Clinical Neuroscience, 2024, v. 12, n. 3, p. 159, doi. 10.1111/ncn3.12770
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- Publication type:
- Article
Clinical diagnostic criteria of benign adult familial myoclonus epilepsy type 1 are highly concordant with genetic testing.
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- Neurology & Clinical Neuroscience, 2023, v. 11, n. 3, p. 140, doi. 10.1111/ncn3.12696
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- Publication type:
- Article
Neuroimaging Pearls from the MDS Congress Video Challenge. Part 2: Acquired Disorders.
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- Movement Disorders Clinical Practice, 2022, v. 9, n. 3, p. 311, doi. 10.1002/mdc3.13415
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- Publication type:
- Article
GLUT1 Deficiency in a Patient Diagnosed as Cerebral Palsy: Is NGS a Valuable Tool to Be Considered in All Cases of CP to Detect Underlying Genetic Disorders?
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- Movement Disorders Clinical Practice, 2019, v. 6, n. 4, p. 277, doi. 10.1002/mdc3.12754
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- Publication type:
- Article
Moving Beyond Syndromic Classifications in Neurodegenerative Disease: The Example of PLA2G6.
- Published in:
- 2017
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- Publication type:
- Editorial
Abnormalities of Masseteric Inhibitory Reflex in Hereditary Geniospasm: Evidence for a Brainstem Myoclonus.
- Published in:
- Movement Disorders Clinical Practice, 2015, v. 2, n. 1, p. 49, doi. 10.1002/mdc3.12097
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- Publication type:
- Article
Relationship between strabismus associated with Angelman syndrome and orbital anomaly.
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- Japanese Journal of Ophthalmology, 2024, v. 68, n. 1, p. 37, doi. 10.1007/s10384-023-01030-6
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- Publication type:
- Article
Introducing DNA Concepts to Swiss High School Students Based on a Brazilian Educational Game.
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- Biochemistry & Molecular Biology Education, 2007, v. 35, n. 6, p. 416, doi. 10.1002/bmb.95
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- Publication type:
- Article
B-55 Neurobehavioral and Neurocognitive Profile of an 8-Year-Old Male with a 17q12 Microdeletion.
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- Archives of Clinical Neuropsychology, 2014, v. 29, n. 6, p. 557, doi. 10.1093/arclin/acu038.143
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- Publication type:
- Article
Effective and Efficient Delivery of Genome-Based Testing-What Conditions Are Necessary for Health System Readiness?
- Published in:
- Healthcare (2227-9032), 2022, v. 10, n. 10, p. N.PAG, doi. 10.3390/healthcare10102086
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- Publication type:
- Article
广州地区育龄人群地中海贫血基因分型及筛查漏检误诊的原因分析.
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- Progress in Modern Biomedicine, 2023, v. 23, n. 17, p. 3247, doi. 10.13241/j.cnki.pmb.2023.17.009
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- Publication type:
- Article
26 例中国先天性晶状体异位患者的基因诊断及手术初步效果观察.
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- Progress in Modern Biomedicine, 2022, v. 22, n. 15, p. 2846, doi. 10.13241/j.cnki.pmb.2022.15.009
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- Publication type:
- Article
GNE – related severe congenital macrothrombocytopenia: A case report and literature review.
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- Journal of Applied Hematology, 2022, v. 13, n. 4, p. 280, doi. 10.4103/joah.joah_44_22
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- Publication type:
- Article
The application of Microarray in Medicine.
- Published in:
- ORL.ro, 2014, v. 7, n. 24, p. 24
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- Publication type:
- Article
GATA2 Deficiency: Early identification for improved clinical outcomes.
- Published in:
- Clinical Journal of Oncology Nursing, 2019, v. 23, n. 4, p. 417, doi. 10.1188/19.CJON.417-422
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- Publication type:
- Article
Hereditary Polyposis Syndromes: Opportunities for early detection in individuals and families.
- Published in:
- Clinical Journal of Oncology Nursing, 2018, v. 22, n. 2, p. 151, doi. 10.1188/18.CJON.151-156
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- Publication type:
- Article
Genetic Testing: Challenges and changes in testing for hereditary cancer syndromes.
- Published in:
- Clinical Journal of Oncology Nursing, 2017, v. 21, n. 5, p. 589, doi. 10.1188/17.CJON.589-598
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- Publication type:
- Article
Ordering the Correct Genetic Test: Implications for Oncology and Primary Care Healthcare Professionals.
- Published in:
- Clinical Journal of Oncology Nursing, 2013, v. 17, n. 2, p. 128, doi. 10.1188/13.CJON.128-131
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- Publication type:
- Article
Effects of education, distance and satellite clinics on the growth of genetic services.
- Published in:
- 1987
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- Publication type:
- journal article
Antenatal genetic diagnosis in Newcastle: experience of 1200 requests.
- Published in:
- 1981
- By:
- Publication type:
- journal article