Works matching DE "GENETIC disorder diagnosis"
Results: 2810
Phenotypic traits and family history in patients with 22q11.2 deletion syndrome and generalized epilepsy: A multicenter case–control study.
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- Epilepsia (Series 4), 2025, v. 66, n. 3, p. 859, doi. 10.1111/epi.18220
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- Article
A Case Study Identified a New Mutation in the TTN Gene for Inherited Hypertrophic Cardiomyopathy.
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- International Journal of General Medicine, 2025, v. 18, p. 447, doi. 10.2147/IJGM.S505865
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- Publication type:
- Article
The genetic landscape and classification of infantile epileptic spasms syndrome requiring surgery due to suspected focal brain malformations.
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- Brain Communications, 2025, v. 7, n. 1, p. 1, doi. 10.1093/braincomms/fcaf034
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- Publication type:
- Article
Large copy number variants are an important cause of congenital hyperinsulinism that should be screened for during routine testing.
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- Frontiers in Endocrinology, 2025, p. 1, doi. 10.3389/fendo.2025.1514916
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- Publication type:
- Article
Molecular Review of Suspected Alport Syndrome Patients—A Single-Centre Experience.
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- Genes, 2025, v. 16, n. 2, p. 196, doi. 10.3390/genes16020196
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- Article
Rare genetic disorders and the heightened importance of baseline motor examinations in children and adolescents experiencing a first episode of psychosis.
- Published in:
- 2025
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- Publication type:
- Letter to the Editor
Whole exome sequencing-based testing of adult epilepsy in a Polish population.
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- Polish Journal of Neurology & Neurosurgery / Neurologia i Neurochirurgia Polska, 2025, v. 59, n. 1, p. 70, doi. 10.5603/pjnns.101922
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- Article
Notable Histologic Findings in a "Normal" Cohort: The National Institutes of Health Genotype-Tissue Expression (GTEx) Project.
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- Archives of Pathology & Laboratory Medicine, 2025, v. 149, n. 3, p. 233, doi. 10.5858/arpa.2023-0468-OA
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- Publication type:
- Article
Simplifying the Diagnosis of Pediatric Nystagmus with Fundus Photography.
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- Children, 2025, v. 12, n. 2, p. 211, doi. 10.3390/children12020211
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- Publication type:
- Article
Fetal genetic factors in pregnancy loss: Insights from a meta-analysis and effectiveness of whole exome sequencing.
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- PLoS ONE, 2025, v. 20, n. 2, p. 1, doi. 10.1371/journal.pone.0319052
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- Publication type:
- Article
Thirteen Years' Experience of Diaphragmatic Injury in Children from the Post Graduate Institute of Medical Sciences (PGIMS), Rohtak, India.
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- Malaysian Journal of Medical Sciences, 2011, v. 18, n. 1, p. 45
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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
PRE-IMPLANTATION TESTING AND THE PROTECTION OF THE "SAVIOUR SIBLING"
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- Deakin Law Review, 2004, v. 9, n. 1, p. 119
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- Publication type:
- Article
Coxartrosis por ocronosis. Reporte de un caso.
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- Acta Ortopédica Mexicana, 2002, v. 16, n. 5, p. 281
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- Publication type:
- Article
Factoring Them In: Shining the Spotlight on Women and Girls with Congenital Bleeding Disorders.
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- Journal of Women's Health (15409996), 2020, v. 29, n. 5, p. 608, doi. 10.1089/jwh.2019.8255
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- Publication type:
- Article
A Cross-Sectional Study of Women and Girls with Congenital Bleeding Disorders: The American Thrombosis and Hemostasis Network Cohort.
- Published in:
- Journal of Women's Health (15409996), 2020, v. 29, n. 5, p. 670, doi. 10.1089/jwh.2019.7930
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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
MALES AT-RISK FOR THE BRCA1-GENE, THE PSYCHOLOGICAL IMPACT.
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- Psycho-Oncology, 1996, v. 5, n. 3, p. 251, doi. 10.1002/(SICI)1099-1611(199609)5:3<251::AID-PON225>3.0.CO;2-6
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- Publication type:
- Article
PSYCHOSOCIAL IMPACT OF TESTING (BY LINKAGE) FOR THE BRCA1 BREAST CANCER GENE: AN INVESTIGATION OF TWO FAMILIES IN THE RESEARCH SETTING.
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- Psycho-Oncology, 1996, v. 5, n. 3, p. 233, doi. 10.1002/(SICI)1099-1611(199609)5:3<233::AID-PON238>3.0.CO;2-T
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- Publication type:
- Article
ACCEPTANCE OF INVITATIONS FOR p53 AND BRCA1 PREDISPOSITION TESTING: FACTORS INFLUENCING POTENTIAL UTILIZATION OF CANCER GENETIC TESTING.
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- Psycho-Oncology, 1996, v. 5, n. 3, p. 241, doi. 10.1002/(SICI)1099-1611(199609)5:3<241::AID-PON235>3.0.CO;2-6
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- Publication type:
- Article
BRCA1 TESTING: SOME ISSUES IN MOVING FROM RESEARCH TO SERVICE.
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- Psycho-Oncology, 1996, v. 5, n. 3, p. 223, doi. 10.1002/(SICI)1099-1611(199609)5:3<223::AID-PON237>3.0.CO;2-X
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- Publication type:
- Article
Detection of copy number variations by pair analysis using next-generation sequencing data in inherited kidney diseases.
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- Clinical & Experimental Nephrology, 2018, v. 22, n. 4, p. 881, doi. 10.1007/s10157-018-1534-x
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- Publication type:
- Article
A Case of Restrictive Dermopathy with Novel ZMPSTE24 Gene Mutation.
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- Pediatric & Developmental Pathology, 2012, v. 15, n. 5, p. 393, doi. 10.2350/11-07-1059-CR.1
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- Publication type:
- Article
Genetic Disorders and the Fetus: Diagnosis, Prevention, and Treatment.
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- 2011
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- Publication type:
- Book Review
Oral candidosis in lichen planus: the diagnostic approach is of major therapeutic importance.
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- Clinical Oral Investigations, 2013, v. 17, n. 3, p. 957, doi. 10.1007/s00784-012-0757-6
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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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- Publication type:
- Article
Genetic diagnosis in a Chinese Hailey–Hailey disease pedigree with novel ATP2C1 gene mutation.
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- Archives of Dermatological Research, 2008, v. 300, n. 4, p. 203, doi. 10.1007/s00403-008-0834-5
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- Publication type:
- Article
Genetic abnormalities and clinical classification of epidermolysis bullosa.
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- Archives of Dermatological Research, 2003, v. 295, p. S29, doi. 10.1007/s00403-002-0369-0
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- Publication type:
- Article
Analysis of the p16 gene status of non-familial dysplastic nevus syndrome patients.
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- Archives of Dermatological Research, 2001, v. 293, n. 10, p. 540, doi. 10.1007/PL00007470
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- Publication type:
- Article
Preimplantation Genetic Diagnosis:.
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- Gynecologic & Obstetric Investigation, 2005, v. 60, n. 1, p. 39, doi. 10.1159/000083483
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- Publication type:
- Article
Cost-Effectiveness Analysis of Prenatal Diagnosis: Methodological Issues and Concerns.
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- Gynecologic & Obstetric Investigation, 2005, v. 60, n. 1, p. 11, doi. 10.1159/000083480
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- Publication type:
- Article
Tatsushi Toda and Tamao Endo win 107th Japan Academy Prize.
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- Glycobiology, 2017, v. 27, n. 7, p. 599, doi. 10.1093/glycob/cwx040
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- Publication type:
- Article
Severe Neonatal Cholestasis in Cerebrotendinous Xanthomatosis: Genetics, Immunostaining, Mass Spectrometry.
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- 2017
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- Publication type:
- journal article
Study of Carnitine/Acylcarnitine and Amino Acid Profile in Children and Adults With Acute Liver Failure.
- Published in:
- 2017
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- Publication type:
- journal article
Two patients with different types of hereditary angioedema.
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- 2021
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- Publication type:
- Case Study
The use of the C-eye system in communication and education of children.
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- Interdyscyplinarne Konteksty Pedagogiki Specjalnej, 2021, n. 33, p. 81, doi. 10.14746/ikps.2021.33.06
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- Article
Coalescence of Cantu and Alport Syndrome in a Young Girl.
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- 2022
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- Publication type:
- Case Study
GENETIC SCREENING AND REPRODUCTIVE CHOICE: IS MAKING A CHILD TO SAVE ANOTHER UNETHICAL?
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- Medicine & Law (World Association for Medical Law), 2005, v. 24, n. 4, p. 775
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- Publication type:
- Article
INFORMED CONSENT WHEN TAKING GENETIC DECISIONS.
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- Medicine & Law (World Association for Medical Law), 2004, v. 23, n. 2, p. 337
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- Publication type:
- Article
The missing link: ARID1B non-truncating variants causing Coffin-Siris syndrome due to protein aggregation.
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- Human Genetics, 2024, v. 143, n. 8, p. 965, doi. 10.1007/s00439-024-02688-9
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- Publication type:
- Article
Novel genotype–phenotype correlations, differential cerebellar allele-specific methylation, and a common origin of the (ATTTC)<sub>n</sub> insertion in spinocerebellar ataxia type 37.
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- Human Genetics, 2024, v. 143, n. 3, p. 211, doi. 10.1007/s00439-024-02644-7
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- Publication type:
- Article
High diagnostic potential of short and long read genome sequencing with transcriptome analysis in exome-negative developmental disorders.
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- Human Genetics, 2023, v. 142, n. 6, p. 773, doi. 10.1007/s00439-023-02553-1
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- Publication type:
- Article
Whole exome sequencing improves genetic diagnosis of fetal clubfoot.
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- Human Genetics, 2023, v. 142, n. 3, p. 407, doi. 10.1007/s00439-022-02516-y
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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
Differential genetic diagnoses of adult post-lingual hearing loss according to the audiogram pattern and novel candidate gene evaluation.
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- Human Genetics, 2022, v. 141, n. 3/4, p. 915, doi. 10.1007/s00439-021-02367-z
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- Publication type:
- Article
Genetic hearing loss: the audiologist's perspective.
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- Human Genetics, 2022, v. 141, n. 3/4, p. 311, doi. 10.1007/s00439-021-02360-6
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- Publication type:
- Article
Resolving misalignment interference for NGS-based clinical diagnostics.
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- Human Genetics, 2021, v. 140, n. 3, p. 477, doi. 10.1007/s00439-020-02216-5
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- Publication type:
- Article
A CRISPR and high-content imaging assay compliant with ACMG/AMP guidelines for clinical variant interpretation in ciliopathies.
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- Human Genetics, 2021, v. 140, n. 4, p. 593, doi. 10.1007/s00439-020-02228-1
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- Publication type:
- Article
A gene-based test of association through an orthogonal decomposition of genotype scores.
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- Human Genetics, 2017, v. 136, n. 10, p. 1385, doi. 10.1007/s00439-017-1839-y
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- Publication type:
- Article
Two anesthesias in a pediatric patient affected from undiagnosed Angelman syndrome.
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- 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