Works about GENETIC disorders
Results: 5000
The Flutter Device versus the PEP Mask in the Treatment of Adults with Cystic Fibrosis.
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- Physiotherapy Canada, 2005, v. 57, n. 3, p. 199, doi. 10.3138/ptc.57.3.199
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- Article
Phylogenetic Patterns Suggest Broad Susceptibility to Chronic Wasting Disease Across Cervidae.
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- Wildlife Society Bulletin (2328-5540), 2020, v. 44, n. 1, p. 152, doi. 10.1002/wsb.1059
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- Article
Comparison of 6-lead smartphone ECG and 12-lead ECG in athletes and a genetic heart disease population.
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- Expert Review of Medical Devices, 2025, v. 22, n. 1, p. 99, doi. 10.1080/17434440.2024.2443113
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- Article
Environmental factors related to the origin and evolution of differentiated thyroid cancer: a narrative review.
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- Expert Review of Endocrinology & Metabolism, 2024, v. 19, n. 6, p. 469, doi. 10.1080/17446651.2024.2377687
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- Article
Infant With Beckwith–Wiedemann Requiring Transplant for Hepatic Mesenchymal Hamartoma.
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- Pediatric Transplantation, 2025, v. 29, n. 1, p. 1, doi. 10.1111/petr.70015
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- Article
An Atypical Presentation of Dyskeratosis Congenita in a Child With a Familial RTEL1 Mutation.
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- Pediatric Dermatology, 2025, v. 42, n. 1, p. 170, doi. 10.1111/pde.15750
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- Article
Reticulated pigmentary changes and Terry's nails in a patient with a TERT variant‐associated telomere biology disorder.
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- Pediatric Dermatology, 2025, v. 42, n. 1, p. 139, doi. 10.1111/pde.15735
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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
Expanding the Clinical and Mutational Spectrum of Biallelic POC1A Variants: Characterization of Four Patients and a Comprehensive Review of POC1A‐Related Phenotypes.
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- Clinical Genetics, 2025, v. 107, n. 4, p. 390, doi. 10.1111/cge.14672
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- Article
A Novel Homozygous Synonymous Variant in CCDC134 as a Cause of Osteogenesis Imperfecta Type XXII.
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- Clinical Genetics, 2025, v. 107, n. 4, p. 446, doi. 10.1111/cge.14664
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- Article
Ataxia With Vitamin E Deficiency: Case Series, Vitamin E Therapy Response, Founder Effect, and In Silico Analysis.
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- Clinical Genetics, 2025, v. 107, n. 3, p. 366, doi. 10.1111/cge.14658
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- Article
BRCC3‐Associated Syndromic Moyamoya Angiopathy Diagnosed Through Clinical RNA Sequencing.
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- Clinical Genetics, 2025, v. 107, n. 3, p. 341, doi. 10.1111/cge.14650
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- Article
Featured Cover.
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- Clinical Genetics, 2025, v. 107, n. 2, p. 1, doi. 10.1111/cge.14700
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- Article
Modified Rules for Classification of Variants Associated With Disorders of Somatic Mosaicism.
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- Clinical Genetics, 2025, v. 107, n. 3, p. 261, doi. 10.1111/cge.14636
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- Article
A Novel PTPRQ c.3697del Variant Causes Autosomal Dominant Progressive Hearing Loss in Both Humans and Mice.
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- Clinical Genetics, 2025, v. 107, n. 2, p. 208, doi. 10.1111/cge.14634
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- Article
PathVar: A Customisable NGS Variant Calling Algorithm Implicates Novel Candidate Genes and Pathways in Hemiplegic Migraine.
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- Clinical Genetics, 2025, v. 107, n. 2, p. 157, doi. 10.1111/cge.14625
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- Article
Utility of Optical Genome Mapping in Repeat Disorders.
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- Clinical Genetics, 2025, v. 107, n. 2, p. 188, doi. 10.1111/cge.14633
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- Article
ME2 Deficiency Is Associated With Recessive Neurodevelopmental Disorder.
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- Clinical Genetics, 2025, v. 107, n. 2, p. 201, doi. 10.1111/cge.14632
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- Article
Metastatic basal cell carcinomas in Gorlin syndrome—A case series and literature review.
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- Australasian Journal of Dermatology, 2025, v. 66, n. 1, p. 36, doi. 10.1111/ajd.14401
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- Article
The origin of YouTube videos on hereditary angioedema matters.
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- Allergy, Asthma & Clinical Immunology, 2025, v. 21, n. 1, p. 1, doi. 10.1186/s13223-025-00947-6
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- Article
Rapid Identification of β-Thalassemia, Hb E, and High Hb F Determinants Using a High-Resolution Melting Analysis: Application in Prenatal Diagnosis in Southern Thailand.
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- Hemoglobin, 2025, v. 49, n. 1, p. 38, doi. 10.1080/03630269.2025.2458822
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- Article
Prevalence and Spectrum of β-Thalassemia Mutations in Baghdad, Iraq: Data from the Premarital Screening Program.
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- Hemoglobin, 2025, v. 49, n. 1, p. 31, doi. 10.1080/03630269.2024.2446360
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- Article
Altered levels of phospholipases C, diacylglycerols, endocannabinoids, and N‐acylethanolamines in patients with hereditary angioedema due to FXII mutation.
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- Allergy, 2025, v. 80, n. 1, p. 287, doi. 10.1111/all.16197
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- Article
Fatal thrombotic microangiopathy during induction for acute myeloid leukemia: A case report and review of vascular complications in germline GATA2 haploinsufficiency.
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- British Journal of Haematology, 2025, v. 206, n. 1, p. 368, doi. 10.1111/bjh.19935
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- Article
46, XY disorders of sex development combined with aceruloplasminaemia: a case report and review of the literature.
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- Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03626-2
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- Article
EDUCAÇÃO INCLUSIVA E SÍNDROMES RARAS: O CASO DA SÍNDROME DE MÓRQUIO.
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- Revista Foco (Interdisciplinary Studies Journal), 2025, v. 18, n. 2, p. 1, doi. 10.54751/revistafoco.v18n2-112
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- Article
The Impact of Myotonic Muscular Dystrophy Type 1 On the Central Nervous System.
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- International Journal of High School Research, 2025, v. 7, n. 2, p. 121, doi. 10.36838/v7i2.16
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- Article
Highlighting cardiovascular manifestations of kleefstra syndrome: literature review and clinical insights.
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- BMC Cardiovascular Disorders, 2025, v. 25, n. 1, p. 1, doi. 10.1186/s12872-025-04610-1
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- Article
Identification of ETFDH gene c. 487 + 2 T > A pathogenic variant and mechanisms for polycystic kidney in neonatal onset MADD.
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- Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03640-4
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- Article
Novel CLCNKB Mutation in Two Siblings With Classic Bartter Syndrome.
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- 2025
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- Case Study
Biochemical and genetic studies on type 2 diabetes mellitus subjects of Ekiti State, Nigeria: Association between CAPN10 and Diabetes: D. O. Adebo.
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- Egyptian Journal of Medical Human Genetics, 2025, v. 26, n. 1, p. 1, doi. 10.1186/s43042-025-00676-w
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- Article
Case Report: Familial hypocalciuric hypercalcemia type 1 with a novel mutation combined with Gitelman syndrome and a review of the literature.
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- 2025
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- Case Study
Adolescents and adults with FOXP1 syndrome show high rates of anxiety and externalizing behaviors but not psychiatric decompensation or skill loss.
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- Frontiers in Psychiatry, 2025, p. 1, doi. 10.3389/fpsyt.2025.1526383
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- Article
Activation of endogenous full-length utrophin by MyoAAV-UA as a therapeutic approach for Duchenne muscular dystrophy.
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- Nature Communications, 2025, v. 16, n. 1, p. 1, doi. 10.1038/s41467-025-57831-5
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- Article
In vivo prime editing rescues photoreceptor degeneration in nonsense mutant retinitis pigmentosa.
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- Nature Communications, 2025, v. 16, n. 1, p. 1, doi. 10.1038/s41467-025-57628-6
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- Article
Clinical profile and outcome of neonates with congenital diaphragmatic hernia: A 16-year experience from a developing country.
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- Proceedings of Singapore Healthcare, 2019, v. 28, n. 1, p. 74, doi. 10.1177/2010105818790578
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- Article
Uncovering the genetic architecture of inherited retinal disease in a consanguineous Iranian cohort.
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- NPJ Genomic Medicine, 2025, v. 10, n. 1, p. 1, doi. 10.1038/s41525-025-00473-9
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- Article
A Rare Case of Unilateral Congenital Asymmetric Crying Facies in a Neonate: Case Report.
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- Indian Journal of Otolaryngology & Head & Neck Surgery, 2025, v. 77, n. 2, p. 1003, doi. 10.1007/s12070-024-05230-5
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- Article
Lipoid Proteinosis—An Unusual Cause of Hoarseness of Voice in a Child: Case Report.
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- Indian Journal of Otolaryngology & Head & Neck Surgery, 2025, v. 77, n. 2, p. 1011, doi. 10.1007/s12070-024-05219-0
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- Article
Miller's Syndrome with Bleeding Nasal Polyp.
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- Indian Journal of Otolaryngology & Head & Neck Surgery, 2025, v. 77, n. 1, p. 553, doi. 10.1007/s12070-024-05192-8
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- Article
Initial Experience of Long-Term Prophylaxis with Lanadelumab for Hereditary Angioedema in China: A Clinical Observation Study on Six Patients.
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- International Archives of Allergy & Immunology, 2025, v. 186, n. 3, p. 221, doi. 10.1159/000541242
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- Article
Strategies to Assess Risk for Hereditary Cancer in Primary Care Clinics: A Cluster Randomized Clinical Trial.
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- JAMA Network Open, 2025, v. 8, n. 3, p. e250185, doi. 10.1001/jamanetworkopen.2025.0185
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- Article
Vocal Cord Paralysis in Association with CHARGE Syndrome: A Case Report.
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- Journal of Clinical & Diagnostic Research, 2025, v. 19, n. 2, p. 5, doi. 10.7860/JCDR/2025/77368.20660
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- Article
Ketogenic Diet for Seizure Management in Glucose Transporter Type 1 Deficiency Syndrome: A Case Report.
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- Journal of Clinical & Diagnostic Research, 2025, v. 19, n. 2, p. 1, doi. 10.7860/JCDR/2025/76543.20622
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- Article
A Case of Atypical Neurofibromatous Neoplasm of Uncertain Biologic Potential: Unravelling the Enigma.
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- Journal of Clinical & Diagnostic Research, 2025, v. 19, n. 2, p. 1, doi. 10.7860/JCDR/2025/70068.20571
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- Article
Transthyretin-Related Familial Amyloidosis Polyneuropathy with Spinal Cord Damage: A Case Report.
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- 2025
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- Case Study
Epidermolysis Bullosa with Esophageal Complications and Co-Infection with Helicobacter pylori: A Case Report.
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- 2025
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- Case Study
Genome-wide association study of idiopathic epilepsy in the Italian Spinone dog breed.
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- PLoS ONE, 2025, v. 20, n. 3, p. 1, doi. 10.1371/journal.pone.0315546
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- Article
Environmental Enrichment Normalizes Metabolic Function in the Murine Model of Prader–Willi Syndrome Magel2-Null Mice.
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- Endocrinology, 2025, v. 166, n. 3, p. 1, doi. 10.1210/endocr/bqaf001
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- Article
Expanded-access use of elamipretide in a newborn with Barth syndrome: a case report.
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- European Heart Journal Case Reports, 2025, v. 9, n. 2, p. 1, doi. 10.1093/ehjcr/ytaf030
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- Article