Works matching DE "GENETIC disorder diagnosis"
Results: 2819
Myotilin gene duplication causing late‐onset myotilinopathy.
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- European Journal of Neurology, 2025, v. 32, n. 1, p. 1, doi. 10.1111/ene.70029
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- Article
Navigating an Uninformative Genomic Test Result: A Practical Guide.
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- Journal of Paediatrics & Child Health, 2025, v. 61, n. 3, p. 344, doi. 10.1111/jpc.16792
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- Article
Biallelic Variant in the AGXT Gene in a Family Segregating Primary Hyperoxaluria; Accurate Genetic Diagnosis and Carrier Detection.
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- Nephrology, 2025, v. 30, n. 1, p. 1, doi. 10.1111/nep.14423
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- Article
Rare Causes and Differential Diagnosis in Patients With Silver‐Russell Syndrome.
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- Clinical Genetics, 2025, v. 107, n. 4, p. 441, doi. 10.1111/cge.14659
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- Publication type:
- Article
Mobile Element Insertion in the APOB Exon 3 Coding Sequence: A New Challenge in Hypobetalipoproteinemia Diagnosis.
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- Clinical Genetics, 2025, v. 107, n. 3, p. 359, doi. 10.1111/cge.14655
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- Article
Diagnostic Use of Genome Sequencing in Patients With 11p15.5 Imprinting Disorder Features: A Pilot Study.
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- Clinical Genetics, 2025, v. 107, n. 3, p. 278, doi. 10.1111/cge.14649
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- Article
Diazoxide-unresponsive Hyperinsulinemic Hypoglycaemia in a Preterm Infant with Heterozygous Insulin Receptor Gene Mutation.
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- Journal of Clinical Research in Pediatric Endocrinology, 2025, v. 17, n. 1, p. 115, doi. 10.4274/jcrpe.galenos.2023.2022-12-10
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- Article
Congenital Titinopathy: Comprehensive Characterization of the Most Severe End of the Disease Spectrum.
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- Annals of Neurology, 2025, v. 97, n. 4, p. 611, doi. 10.1002/ana.27087
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- Article
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
Case Report: A case of progressive encephalopathy with or without lipodystrophy caused by BSCL2 variant and literature review.
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- Frontiers in Genetics, 2025, p. 1, doi. 10.3389/fgene.2025.1528563
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- Article
Targeted long-read sequencing enables higher diagnostic yield of ADPKD by accurate PKD1 genetic analysis.
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- NPJ Genomic Medicine, 2025, v. 10, n. 1, p. 1, doi. 10.1038/s41525-025-00477-5
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- Article
Density and structure of DNA immobilised on gold nanoparticles affect sensitivity in nucleic acid detection.
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- Scientific Reports, 2025, v. 15, n. 1, p. 1, doi. 10.1038/s41598-025-92474-y
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- Article
Correction: Experience of copy number variation sequencing applied in spontaneous abortion.
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- 2025
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- Correction Notice
Precision Medicine: Seeing the Tree in the Forest!
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- Journal of Kidney Cancer & VHL, 2025, v. 12, n. 1, p. 1, doi. 10.15586/jkcvhl.v12i1.395
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- Article
Identification of novel COL4A5 variants and prenatal diagnosis in three large families.
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- Scientific Reports, 2025, v. 15, n. 1, p. 1, doi. 10.1038/s41598-025-92649-7
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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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- 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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- Article
Laparoscopic Management of Congenital Intrathoracic Stomach.
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- Journal of Indian Association of Pediatric Surgeons, 2025, v. 30, n. 2, p. 250, doi. 10.4103/jiaps.jiaps_245_24
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- 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
Innovations and implementations of clustered regularly interspaced short palindromic repeats in next-generation diagnostic tools: A review of current and emerging techniques.
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- Journal of Clinical Sciences, 2025, v. 22, n. 1, p. 36, doi. 10.4103/jcls.jcls_108_24
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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.
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- 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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- Publication type:
- 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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- 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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- 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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- 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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- 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.
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- 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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- 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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- 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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- 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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- 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