Works matching DE "GENETIC disorders"
Results: 5000
Heterozygous PNPT1 Variants Cause a Sensory Ataxic Neuropathy.
- Published in:
- European Journal of Neurology, 2025, v. 32, n. 2, p. 1, doi. 10.1111/ene.70064
- By:
- Publication type:
- Article
The novel p.A30G SNCA pathogenic variant in Greek patients with familial and sporadic Parkinson's disease.
- Published in:
- European Journal of Neurology, 2025, v. 32, n. 2, p. 1, doi. 10.1111/ene.16562
- By:
- Publication type:
- Article
Metabolic Dysregulation as a Central Mechanism in 16p11.2 Deletion Syndrome: A Multigenic Perspective on Clinical Variability and Therapeutic Opportunities.
- Published in:
- BioEssays, 2025, v. 47, n. 3, p. 1, doi. 10.1002/bies.202400299
- By:
- Publication type:
- Article
A Hypothesis: Metabolic Contributions to 16p11.2 Deletion Syndrome.
- Published in:
- BioEssays, 2025, v. 47, n. 3, p. 1, doi. 10.1002/bies.202400177
- By:
- Publication type:
- Article
Clinical Phenotypic Characterization of the SLC26A4 Mutation in Pendred Syndrome/Nonsyndromic Enlarged Vestibular Aqueduct.
- Published in:
- Laryngoscope, 2025, v. 135, n. 2, p. 848, doi. 10.1002/lary.31752
- By:
- Publication type:
- Article
Eccrine syringofibroadenoma as a manifestation of ichthyosis follicularis‐atrichia‐photophobia syndrome‐1.
- Published in:
- International Journal of Dermatology, 2025, v. 64, n. 2, p. 417, doi. 10.1111/ijd.17383
- By:
- Publication type:
- Article
Turning breast to bone: Benign osseous metaplasia of the breast.
- Published in:
- Journal of Medical Imaging & Radiation Oncology, 2025, v. 69, n. 1, p. 82, doi. 10.1111/1754-9485.13799
- By:
- Publication type:
- Article
Outpatient management of large scalp aplasia cutis congenita without skull defect in a case of Adams‐Oliver syndrome.
- Published in:
- Kaohsiung Journal of Medical Sciences, 2025, v. 41, n. 2, p. 1, doi. 10.1002/kjm2.12935
- By:
- Publication type:
- Article
The Flutter Device versus the PEP Mask in the Treatment of Adults with Cystic Fibrosis.
- Published in:
- Physiotherapy Canada, 2005, v. 57, n. 3, p. 199, doi. 10.3138/ptc.57.3.199
- By:
- Publication type:
- Article
Phylogenetic Patterns Suggest Broad Susceptibility to Chronic Wasting Disease Across Cervidae.
- Published in:
- Wildlife Society Bulletin (2328-5540), 2020, v. 44, n. 1, p. 152, doi. 10.1002/wsb.1059
- By:
- Publication type:
- Article
Comparison of 6-lead smartphone ECG and 12-lead ECG in athletes and a genetic heart disease population.
- Published in:
- Expert Review of Medical Devices, 2025, v. 22, n. 1, p. 99, doi. 10.1080/17434440.2024.2443113
- By:
- Publication type:
- Article
Environmental factors related to the origin and evolution of differentiated thyroid cancer: a narrative review.
- Published in:
- Expert Review of Endocrinology & Metabolism, 2024, v. 19, n. 6, p. 469, doi. 10.1080/17446651.2024.2377687
- By:
- Publication type:
- Article
Infant With Beckwith–Wiedemann Requiring Transplant for Hepatic Mesenchymal Hamartoma.
- Published in:
- Pediatric Transplantation, 2025, v. 29, n. 1, p. 1, doi. 10.1111/petr.70015
- By:
- Publication type:
- Article
An Atypical Presentation of Dyskeratosis Congenita in a Child With a Familial RTEL1 Mutation.
- Published in:
- Pediatric Dermatology, 2025, v. 42, n. 1, p. 170, doi. 10.1111/pde.15750
- By:
- Publication type:
- Article
Reticulated pigmentary changes and Terry's nails in a patient with a TERT variant‐associated telomere biology disorder.
- Published in:
- Pediatric Dermatology, 2025, v. 42, n. 1, p. 139, doi. 10.1111/pde.15735
- By:
- Publication type:
- Article
Biallelic Variant in the AGXT Gene in a Family Segregating Primary Hyperoxaluria; Accurate Genetic Diagnosis and Carrier Detection.
- Published in:
- Nephrology, 2025, v. 30, n. 1, p. 1, doi. 10.1111/nep.14423
- By:
- Publication type:
- Article
Expanding the Clinical and Mutational Spectrum of Biallelic POC1A Variants: Characterization of Four Patients and a Comprehensive Review of POC1A‐Related Phenotypes.
- Published in:
- Clinical Genetics, 2025, v. 107, n. 4, p. 390, doi. 10.1111/cge.14672
- By:
- Publication type:
- Article
A Novel Homozygous Synonymous Variant in CCDC134 as a Cause of Osteogenesis Imperfecta Type XXII.
- Published in:
- Clinical Genetics, 2025, v. 107, n. 4, p. 446, doi. 10.1111/cge.14664
- By:
- Publication type:
- Article
Ataxia With Vitamin E Deficiency: Case Series, Vitamin E Therapy Response, Founder Effect, and In Silico Analysis.
- Published in:
- Clinical Genetics, 2025, v. 107, n. 3, p. 366, doi. 10.1111/cge.14658
- By:
- Publication type:
- Article
BRCC3‐Associated Syndromic Moyamoya Angiopathy Diagnosed Through Clinical RNA Sequencing.
- Published in:
- Clinical Genetics, 2025, v. 107, n. 3, p. 341, doi. 10.1111/cge.14650
- By:
- Publication type:
- Article
Featured Cover.
- Published in:
- Clinical Genetics, 2025, v. 107, n. 2, p. 1, doi. 10.1111/cge.14700
- By:
- Publication type:
- Article
Modified Rules for Classification of Variants Associated With Disorders of Somatic Mosaicism.
- Published in:
- Clinical Genetics, 2025, v. 107, n. 3, p. 261, doi. 10.1111/cge.14636
- By:
- Publication type:
- Article
A Novel PTPRQ c.3697del Variant Causes Autosomal Dominant Progressive Hearing Loss in Both Humans and Mice.
- Published in:
- Clinical Genetics, 2025, v. 107, n. 2, p. 208, doi. 10.1111/cge.14634
- By:
- Publication type:
- Article
PathVar: A Customisable NGS Variant Calling Algorithm Implicates Novel Candidate Genes and Pathways in Hemiplegic Migraine.
- Published in:
- Clinical Genetics, 2025, v. 107, n. 2, p. 157, doi. 10.1111/cge.14625
- By:
- Publication type:
- Article
Utility of Optical Genome Mapping in Repeat Disorders.
- Published in:
- Clinical Genetics, 2025, v. 107, n. 2, p. 188, doi. 10.1111/cge.14633
- By:
- Publication type:
- Article
ME2 Deficiency Is Associated With Recessive Neurodevelopmental Disorder.
- Published in:
- Clinical Genetics, 2025, v. 107, n. 2, p. 201, doi. 10.1111/cge.14632
- By:
- Publication type:
- Article
Metastatic basal cell carcinomas in Gorlin syndrome—A case series and literature review.
- Published in:
- Australasian Journal of Dermatology, 2025, v. 66, n. 1, p. 36, doi. 10.1111/ajd.14401
- By:
- Publication type:
- Article
The origin of YouTube videos on hereditary angioedema matters.
- Published in:
- Allergy, Asthma & Clinical Immunology, 2025, v. 21, n. 1, p. 1, doi. 10.1186/s13223-025-00947-6
- By:
- Publication type:
- 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.
- Published in:
- Hemoglobin, 2025, v. 49, n. 1, p. 38, doi. 10.1080/03630269.2025.2458822
- By:
- Publication type:
- Article
Prevalence and Spectrum of β-Thalassemia Mutations in Baghdad, Iraq: Data from the Premarital Screening Program.
- Published in:
- Hemoglobin, 2025, v. 49, n. 1, p. 31, doi. 10.1080/03630269.2024.2446360
- By:
- Publication type:
- Article
Altered levels of phospholipases C, diacylglycerols, endocannabinoids, and N‐acylethanolamines in patients with hereditary angioedema due to FXII mutation.
- Published in:
- Allergy, 2025, v. 80, n. 1, p. 287, doi. 10.1111/all.16197
- By:
- Publication type:
- Article
Let 'Pregnant Women Choose the Destiny for Themselves and Their Child'. How Fertility Clinic Digital Platforms Frame Preimplantation Genetic Testing (PGT) in Spain.
- Published in:
- Sociology of Health & Illness, 2025, v. 47, n. 1, p. 1, doi. 10.1111/1467-9566.13876
- By:
- Publication type:
- Article
Contemporary visualities of ill health: On the social (media) construction of disease regimes.
- Published in:
- Sociology of Health & Illness, 2025, v. 47, n. 1, p. 1, doi. 10.1111/1467-9566.13846
- By:
- Publication type:
- Article
Fatal thrombotic microangiopathy during induction for acute myeloid leukemia: A case report and review of vascular complications in germline GATA2 haploinsufficiency.
- Published in:
- British Journal of Haematology, 2025, v. 206, n. 1, p. 368, doi. 10.1111/bjh.19935
- By:
- Publication type:
- Article
46, XY disorders of sex development combined with aceruloplasminaemia: a case report and review of the literature.
- Published in:
- Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03626-2
- By:
- Publication type:
- Article
Association between IFN-γ +874T/A SNP and COVID-19 Severity.
- Published in:
- Iranian Journal of Allergy, Asthma & Immunology, 2025, v. 24, n. 2, p. 254, doi. 10.18502/ijaai.v24i2.18151
- By:
- Publication type:
- Article
Anaesthetic Challenges in An Adolescent with Segawa Syndrome And Recurrent Aspiration Pneumonitis Scheduled For Laparoscopic Fundoplication. A Rare Presentation.
- Published in:
- 2025
- By:
- Publication type:
- Case Study
A case report of oculopharyngodistal myopathy with 126 CGG repeat expansions in RILPL1.
- Published in:
- Frontiers in Genetics, 2025, p. 1, doi. 10.3389/fgene.2025.1472907
- By:
- Publication type:
- Article
Feeding, Swallowing, and Chewing Disorders in Children with Down Syndrome: an Exploratory Review.
- Published in:
- Universitas Odontológica, 2024, v. 43, p. 34, doi. 10.11144/Javeriana.uo43.fscd
- By:
- Publication type:
- Article
Epigenetics.
- Published in:
- Indian Journal of Medical & Paediatric Oncology, 2021, v. 42, n. 3, p. 378, doi. 10.4103/ijmpo.ijmpo_24_20
- By:
- Publication type:
- Article
Evaluation of information flows in the RAS-MAPK system using transfer entropy measurements.
- Published in:
- eLife, 2025, p. 1, doi. 10.7554/eLife.104432
- By:
- Publication type:
- Article
Increased HA/CD44/TGFβ signaling implicates in renal fibrosis of a Col4a5 mutant Alport mice.
- Published in:
- Molecular Medicine, 2025, v. 31, n. 1, p. 1, doi. 10.1186/s10020-025-01146-0
- By:
- Publication type:
- Article
EDUCAÇÃO INCLUSIVA E SÍNDROMES RARAS: O CASO DA SÍNDROME DE MÓRQUIO.
- Published in:
- Revista Foco (Interdisciplinary Studies Journal), 2025, v. 18, n. 2, p. 1, doi. 10.54751/revistafoco.v18n2-112
- By:
- Publication type:
- Article
The Impact of Myotonic Muscular Dystrophy Type 1 On the Central Nervous System.
- Published in:
- International Journal of High School Research, 2025, v. 7, n. 2, p. 121, doi. 10.36838/v7i2.16
- By:
- Publication type:
- Article
Highlighting cardiovascular manifestations of kleefstra syndrome: literature review and clinical insights.
- Published in:
- BMC Cardiovascular Disorders, 2025, v. 25, n. 1, p. 1, doi. 10.1186/s12872-025-04610-1
- By:
- Publication type:
- Article
Identification of ETFDH gene c. 487 + 2 T > A pathogenic variant and mechanisms for polycystic kidney in neonatal onset MADD.
- Published in:
- Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03640-4
- By:
- Publication type:
- Article
Novel CLCNKB Mutation in Two Siblings With Classic Bartter Syndrome.
- Published in:
- 2025
- By:
- Publication type:
- Case Study
Biochemical and genetic studies on type 2 diabetes mellitus subjects of Ekiti State, Nigeria: Association between CAPN10 and Diabetes: D. O. Adebo.
- Published in:
- Egyptian Journal of Medical Human Genetics, 2025, v. 26, n. 1, p. 1, doi. 10.1186/s43042-025-00676-w
- By:
- Publication type:
- Article
Case Report: Familial hypocalciuric hypercalcemia type 1 with a novel mutation combined with Gitelman syndrome and a review of the literature.
- Published in:
- 2025
- By:
- Publication type:
- Case Study
Adolescents and adults with FOXP1 syndrome show high rates of anxiety and externalizing behaviors but not psychiatric decompensation or skill loss.
- Published in:
- Frontiers in Psychiatry, 2025, p. 1, doi. 10.3389/fpsyt.2025.1526383
- By:
- Publication type:
- Article