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Genebe.net: Implementation and validation of an automatic ACMG variant pathogenicity criteria assignment.
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- Clinical Genetics, 2024, v. 106, n. 2, p. 119, doi. 10.1111/cge.14516
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- Article
Imperfecta: Her brother's disease leads a writer to challenge how we conceive of human abnormality in the emerging era of gene editing.
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- American Scholar, 2024, v. 93, n. 3, p. 27
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- Publication type:
- Article
A novel mutation in SORD gene associated with distal hereditary motor neuropathies.
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- BMC Medical Genomics, 2024, v. 17, n. 1, p. 1, doi. 10.1186/s12920-024-01940-5
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- Article
Effect of clinical whole exome sequencing in aetiological investigation and reproductive risk prediction for a couple with monogenic inherited diseases.
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- Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2024.1364769
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- Article
Correction: The effect of sex and age on facial shape directional asymmetry in adults: A 3D landmarks-based method study.
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- 2024
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- Publication type:
- Correction Notice
Reclassification of BRCA1 and BRCA2 variants of uncertain significance in patients with epithelial ovarian cancer.
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- Journal of Gynecologic Oncology, 2024, v. 35, p. 45, doi. 10.3802/jgo.2024.35.S2.P49
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- Article
Domenico Bernoco: In Memorium.
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- Animal Genetics, 2024, v. 55, n. 3, p. 301, doi. 10.1111/age.13418
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- Article
Analysis of four hereditary protein C deficiencies associated with vascular thromboembolism.
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- Annals of Hematology, 2024, v. 103, n. 6, p. 2145, doi. 10.1007/s00277-024-05674-3
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- Article
NRN1 epistasis with BDNF and CACNA1C: mediation effects on symptom severity through neuroanatomical changes in schizophrenia.
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- Brain Structure & Function, 2024, v. 229, n. 5, p. 1299, doi. 10.1007/s00429-024-02793-5
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- Article
Prognostic Impact of TERT Promoter Mutations in Adult-Type Diffuse Gliomas Based on WHO2021 Criteria.
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- Cancers, 2024, v. 16, n. 11, p. 2032, doi. 10.3390/cancers16112032
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- Article
Consideration of the Medical Economics of Cardiac Genetics, Focusing on the Cost-Effectiveness of P2Y12 Inhibitor Selection Based on the CYP2C19 Loss-of-Function Allele: A Semi-Systematic Review.
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- Cardiogenetics, 2024, v. 14, n. 2, p. 59, doi. 10.3390/cardiogenetics14020005
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- Article
Genetic profile of syndromic retinitis pigmentosa in Portugal.
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- Graefe's Archive of Clinical & Experimental Ophthalmology, 2024, v. 262, n. 6, p. 1883, doi. 10.1007/s00417-023-06360-2
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- Publication type:
- Article
Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020–2023).
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- International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 2, p. 38, doi. 10.3390/ijns10020038
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- Publication type:
- Article
Characterizing Sensory Phenotypes of Subgroups with a Known Genetic Etiology Pertaining to Diagnoses of Autism Spectrum Disorder and Intellectual Disability.
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- Journal of Autism & Developmental Disorders, 2024, v. 54, n. 6, p. 2386, doi. 10.1007/s10803-023-05897-9
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- Publication type:
- Article
POLR3A-related disorders: expanding the clinical phenotype.
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- Journal of Neurology, 2024, v. 271, n. 6, p. 3635, doi. 10.1007/s00415-024-12265-9
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- Publication type:
- Article
Germline Variants in Sporadic Pituitary Adenomas.
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- Journal of the Endocrine Society, 2024, v. 8, n. 6, p. 1, doi. 10.1210/jendso/bvae085
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- Publication type:
- Article
Syndromology at the interface of evolving phenotypes, epimutations, and model systems.
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- Medizinische Genetik, 2024, v. 36, n. 2, p. 93, doi. 10.1515/medgen-2024-2024
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- Publication type:
- Article
Tagungsbericht Genomics of Rare Disease 2024 Conference.
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- Medizinische Genetik, 2024, v. 36, n. 2, p. 145, doi. 10.1515/medgen-2024-2021
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- Publication type:
- Article
Generalized Dystonia as a Cardinal Manifestation of Combined Oxidative Phosphorylation Deficiency 1.
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- Movement Disorders Clinical Practice, 2024, v. 11, n. 6, p. 742, doi. 10.1002/mdc3.14027
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- Article
Novel ERLIN2 variant expands the phenotype of Spastic Paraplegia 18.
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- Neurological Sciences, 2024, v. 45, n. 6, p. 2705, doi. 10.1007/s10072-023-07271-0
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- Publication type:
- Article
Methylthioadenosine Phosphorylase Genomic Loss in Advanced Gastrointestinal Cancers.
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- Oncologist, 2024, v. 29, n. 6, p. 493, doi. 10.1093/oncolo/oyae011
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- Publication type:
- Article
Whole exome sequencing reveals two novel mutations in GREB1L in two Chinese families with renal agenesis.
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- QJM: An International Journal of Medicine, 2024, v. 117, n. 6, p. 462, doi. 10.1093/qjmed/hcae036
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- Article
Investigating mobile element variations by statistical genetics.
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- Human Genome Variation, 2024, v. 11, n. 1, p. 1, doi. 10.1038/s41439-024-00280-1
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- Article
A whole-exome sequencing study of patent foramen ovale: investigating genetic variants and their association with cardiovascular disorders.
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- Frontiers in Genetics, 2024, p. 01, doi. 10.3389/fgene.2024.1405307
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- Publication type:
- Article
De novo variation in ARID1B gene causes Coffin-Siris syndrome 1 in a Chinese family with excessive early-onset high myopia.
- Published in:
- BMC Medical Genomics, 2024, v. 17, n. 1, p. 1, doi. 10.1186/s12920-024-01904-9
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- Publication type:
- Article
Complex genotype–phenotype correlation of MYH11: new insights from monozygotic twins with highly variable expressivity and outcomes.
- Published in:
- BMC Medical Genomics, 2024, v. 17, n. 1, p. 1, doi. 10.1186/s12920-024-01908-5
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- Publication type:
- Article
Polygenic risk scores for cardiovascular risk prediction: moving towards implementation into clinical practice?
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- European Heart Journal, 2024, v. 45, n. 20, p. 1853, doi. 10.1093/eurheartj/ehae125
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- Article
Comprehensive insights into AML relapse: genetic mutations, clonal evolution, and clinical outcomes.
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- Cancer Cell International, 2024, v. 24, n. 1, p. 1, doi. 10.1186/s12935-024-03368-4
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- Publication type:
- Article
WilsonGenAI a deep learning approach to classify pathogenic variants in Wilson Disease.
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- PLoS ONE, 2024, v. 19, n. 5, p. 1, doi. 10.1371/journal.pone.0303787
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- Article
Correlations of the CNR1 Gene with Personality Traits in Women with Alcohol Use Disorder.
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- International Journal of Molecular Sciences, 2024, v. 25, n. 10, p. 5174, doi. 10.3390/ijms25105174
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- Publication type:
- Article
Newborn Screening for 6 Lysosomal Storage Disorders in China.
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- JAMA Network Open, 2024, v. 7, n. 5, p. e2410754, doi. 10.1001/jamanetworkopen.2024.10754
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- Publication type:
- Article
Editorial: Ehlers-Danlos syndrome: from bedside to bench.
- Published in:
- Frontiers in Genetics, 2024, p. 01, doi. 10.3389/fgene.2024.1399386
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- Publication type:
- Article
Imaging approaches for the diagnosis of genetic diseases affecting the female reproductive organs and beyond.
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- Abdominal Radiology, 2024, v. 49, n. 5, p. 1664, doi. 10.1007/s00261-024-04260-5
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- Article
Response to letter to the editor: 'Gonadal tumour screening in XY gonadal dysgenesis'.
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- 2024
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- Publication type:
- Letter to the Editor
Allelic heterogeneity in a patient with postzygotic MTOR‐related hypomelanosis of Ito with neurodevelopmental abnormalities.
- Published in:
- Clinical Genetics, 2024, v. 105, n. 5, p. 581, doi. 10.1111/cge.14511
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- Publication type:
- Article
Difficulties in disclosing secondary findings by facilities performing comprehensive germline genetic testing for rare diseases in Japan.
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- Congenital Anomalies, 2024, v. 64, n. 3, p. 116, doi. 10.1111/cga.12562
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- Article
The Legacy of George M. Martin: From Segmental Progeroid Syndromes to Antigeroid Syndromes.
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- Cytogenetic & Genome Research, 2024, v. 163, n. 5/6, p. 231, doi. 10.1159/000537967
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- Article
Overburden of rare ALMS1 deleterious variants in Chinese early‐onset type 2 diabetes with severe insulin resistance.
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- Diabetes/Metabolism Research & Reviews, 2024, v. 40, n. 4, p. 1, doi. 10.1002/dmrr.3788
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- Article
Comprehensive phenotypes of patients with SYNGAP1‐related disorder reveals high rates of epilepsy and autism.
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- Epilepsia (Series 4), 2024, v. 65, n. 5, p. 1428, doi. 10.1111/epi.17913
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- Article
Reproductive genetics at a crossroads: the challenges posed by hominid pregnancy loss.
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- Journal of Assisted Reproduction & Genetics, 2024, v. 41, n. 5, p. 1125, doi. 10.1007/s10815-024-03142-5
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- Publication type:
- Article
Are some children genetically predisposed to poor sleep? A polygenic risk study in the general population.
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- Journal of Child Psychology, 2024, v. 65, n. 5, p. 710, doi. 10.1111/jcpp.13899
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- Publication type:
- Article
Variant Analysis in LDLR Gene Uncovers Genetic Basis of Familial Hypercholesterolemia: A Case Report.
- Published in:
- Journal of Clinical & Diagnostic Research, 2024, v. 18, n. 5, p. 1, doi. 10.7860/JCDR/2024/68636.19422
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- Publication type:
- Article
HRAS mosaicism in linear palmoplantar keratoderma.
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- Journal of the European Academy of Dermatology & Venereology, 2024, v. 38, n. 5, p. e382, doi. 10.1111/jdv.19613
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- Publication type:
- Article
Multiple facial atrophic scars in childhood.
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- Pediatric Dermatology, 2024, v. 41, n. 3, p. 537, doi. 10.1111/pde.15542
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- Publication type:
- Article
Whole‐genome sequencing in prenatally detected congenital malformations: prospective cohort study in clinical setting.
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- Ultrasound in Obstetrics & Gynecology, 2024, v. 63, n. 5, p. 658, doi. 10.1002/uog.27592
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- Publication type:
- Article
Non-invasive biomarkers for sperm retrieval in non-obstructive patients: a comprehensive review.
- Published in:
- Frontiers in Endocrinology, 2024, p. 1, doi. 10.3389/fendo.2024.1349000
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- Publication type:
- Article
Editorial: Current progress in genomic and genetic research on human viral diseases.
- Published in:
- Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2024.1407559
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- Publication type:
- Article
Compound heterozygous mutation of the SNX14 gene causes autosomal recessive spinocerebellar ataxia 20.
- Published in:
- Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2024.1379366
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- Publication type:
- Article
Desmosomes in heart and skin: friends or foes?
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- Journal of Translational Medicine, 2024, v. 22, n. 1, p. 1, doi. 10.1186/s12967-024-05137-3
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- Article
Special Issue: "Genes and Human Diseases".
- Published in:
- International Journal of Molecular Sciences, 2024, v. 25, n. 8, p. 4455, doi. 10.3390/ijms25084455
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- Article