Results: 466
Whole-Exome Sequencing: Discovering Genetic Causes of Granulomatous Mastitis.
- Published in:
- International Journal of Molecular Sciences, 2025, v. 26, n. 1, p. 425, doi. 10.3390/ijms26010425
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- Publication type:
- Article
Unprecedented Co-occurrence: Identification of a Pathogenic Genetic Variant in the KMT2B Gene in a Wilson Disease Patient with a Pathogenic ATP7B Mutation.
- Published in:
- Annals of Neurosciences, 2024, v. 31, n. 4, p. 277, doi. 10.1177/09727531241286272
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- Publication type:
- Article
A TSC2 recurrent variant c.5126C>T in a Han-Chinese family with tuberous sclerosis complex.
- Published in:
- Pakistan Journal of Medical Sciences, 2025, v. 41, n. 1, p. 263, doi. 10.12669/pjms.41.1.10153
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- Publication type:
- Article
Whole Exome Sequencing in Neurodevelopmental Disorders: A Single Center Study.
- Published in:
- Basic & Clinical Neuroscience, 2024, v. 15, n. 6, p. 855, doi. 10.32598/bcn.2024.5231.1
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- Publication type:
- Article
CYP17A1 Pathogenic Variants in 26 Chinese Patients With 17α-Hydroxylase Deficiency by Targeted Long-Read Sequencing.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2025, v. 110, n. 1, p. 59, doi. 10.1210/clinem/dgae414
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- Publication type:
- Article
Interpretation and classification of FBN1 variants associated with Marfan syndrome: consensus recommendations from the Clinical Genome Resource's FBN1 variant curation expert panel.
- Published in:
- Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01423-3
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- Publication type:
- Article
Pathogen genetics: Sequencing of clinical bacterial isolates.
- Published in:
- Nature Reviews Genetics, 2015, v. 16, n. 9, p. 499, doi. 10.1038/nrg4002
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- Publication type:
- Article
Start me up: ways to encourage sharing of genomic information with research participants.
- Published in:
- Nature Reviews Genetics, 2015, v. 16, n. 8, p. 435, doi. 10.1038/nrg3981
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- Publication type:
- Article
Natural selection and infectious disease in human populations.
- Published in:
- Nature Reviews Genetics, 2014, v. 15, n. 6, p. 379, doi. 10.1038/nrg3734
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- Publication type:
- Article
Genómica y eugenesia: nuevos imaginarios reproductivos y viejos racismos de estado.
- Published in:
- Estudios Sociológicos, 2022, v. 40, n. 120, p. 97, doi. 10.24201/es.2022v40nne.2081
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- Publication type:
- Article
A case of polyglucosan body myopathy caused by an RBCK1 gene variant and literature review.
- Published in:
- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 4, p. 1, doi. 10.1002/mgg3.2432
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- Publication type:
- Article
Genetic analysis of nephrogenic diabetes insipidus patients: A study on the Iranian population.
- Published in:
- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 4, p. 1, doi. 10.1002/mgg3.2421
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- Publication type:
- Article
Two novel pathogenic variants in the TCOF1 found in two Chinese cases of Treacher Collins syndrome.
- Published in:
- 2024
- By:
- Publication type:
- Case Study
Rare variant of TBL1XR1 in West syndrome: A case report.
- Published in:
- Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 7, p. 1, doi. 10.1002/mgg3.1991
- By:
- Publication type:
- Article
Identification of variants in ACAN and PAPSS2 leading to spondyloepi(meta)physeal dysplasias in four Chinese families.
- Published in:
- Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 5, p. 1, doi. 10.1002/mgg3.1916
- By:
- Publication type:
- Article
Three de novo variants in KMT2A (MLL) identified by whole exome sequencing in patients with Wiedemann–Steiner syndrome.
- Published in:
- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 10, p. 1, doi. 10.1002/mgg3.1798
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- Publication type:
- Article
A novel de novo HDAC8 missense mutation causing Cornelia de Lange syndrome.
- Published in:
- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 9, p. 1, doi. 10.1002/mgg3.1612
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- Publication type:
- Article
Confirming the contribution and genetic spectrum of de novo mutation in infantile spasms: Evidence from a Chinese cohort.
- Published in:
- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 6, p. 1, doi. 10.1002/mgg3.1689
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- Publication type:
- Article
Novel compound heterozygous frameshift variants in WDR81 associated with congenital hydrocephalus 3 with brain anomalies: First Chinese prenatal case confirms WDR81 involvement.
- Published in:
- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 4, p. 1, doi. 10.1002/mgg3.1624
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- Publication type:
- Article
Novel mutations in hyper‐IgM syndrome type 2 and X‐linked agammaglobulinemia detected in three patients with primary immunodeficiency disease.
- Published in:
- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 1, p. 1, doi. 10.1002/mgg3.1552
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- Publication type:
- Article
Molecular analysis of 76 Chinese hemophilia B pedigrees and the identification of 10 novel mutations.
- Published in:
- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 11, p. 1, doi. 10.1002/mgg3.1482
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- Publication type:
- Article
Disease causing property analyzation of variants in 12 Chinese families with polycystic kidney disease.
- Published in:
- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 11, p. 1, doi. 10.1002/mgg3.1467
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- Publication type:
- Article
The role of sodium channels in sudden unexpected death in pediatrics.
- Published in:
- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 8, p. 1, doi. 10.1002/mgg3.1309
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- Publication type:
- Article
Genetic variability in Iranian limb‐girdle muscular dystrophy type 2B patients: An evidence of a founder effect.
- Published in:
- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 12, p. N.PAG, doi. 10.1002/mgg3.1029
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- Publication type:
- Article
Three novel MTM1 pathogenic variants identified in Japanese patients with X‐linked myotubular myopathy.
- Published in:
- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 5, p. N.PAG, doi. 10.1002/mgg3.621
- By:
- Publication type:
- Article
Genetics and genomic medicine in Iran.
- Published in:
- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 2, p. N.PAG, doi. 10.1002/mgg3.606
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- Publication type:
- Article
Genetics and genomic medicine in Morocco: the present hope can make the future bright.
- Published in:
- Molecular Genetics & Genomic Medicine, 2016, v. 4, n. 6, p. 588, doi. 10.1002/mgg3.255
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- Publication type:
- Article
Medical genetics and genomic medicine in Greece: achievements and challenges.
- Published in:
- Molecular Genetics & Genomic Medicine, 2015, v. 3, n. 5, p. 383, doi. 10.1002/mgg3.179
- By:
- Publication type:
- Article
Genetic counselors and Genomic Counseling in the United Kingdom.
- Published in:
- 2015
- By:
- Publication type:
- Opinion
Arab gene geography: From population diversities to personalized medical genomics.
- Published in:
- Global Cardiology Science & Practice, 2014, v. 2014, n. 4, p. 238, doi. 10.5339/gcsp.2014.54
- By:
- Publication type:
- Article
New insights on familial colorectal cancer type X syndrome.
- Published in:
- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-06782-8
- By:
- Publication type:
- Article
Case report: A case of novel homozygous LRBA variant induced by chromosomal segmental uniparental disomy - genetic and clinical insights.
- Published in:
- Frontiers in Immunology, 2024, p. 1, doi. 10.3389/fimmu.2024.1351076
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- Publication type:
- Article
Editorial: Emerging talents in human and medical genomics.
- Published in:
- Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2024.1497486
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- Publication type:
- Article
Editorial: Emerging talents in human and medical genomics.
- Published in:
- Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2024.1497486
- By:
- Publication type:
- Article
Case report: Novel SIN3A loss-of-function variant as causative for hypogonadotropic hypogonadism in Witteveen-Kolk syndrome.
- Published in:
- Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2024.1354715
- By:
- Publication type:
- Article
Four different gene-related cone--rod dystrophy: clinical and genetic findings in six Chinese families with diverse modes of inheritance.
- Published in:
- Frontiers in Genetics, 2023, p. 1, doi. 10.3389/fgene.2023.1157156
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- Publication type:
- Article
Pitfalls in Genetic Testing for Consanguineous Pediatric Populations.
- Published in:
- 2022
- By:
- Publication type:
- Case Study
Reclassification of BRCA1 and BRCA2 variants of uncertain significance in patients with epithelial ovarian cancer.
- Published in:
- Journal of Gynecologic Oncology, 2024, v. 35, p. 45, doi. 10.3802/jgo.2024.35.S2.P49
- By:
- Publication type:
- Article
Evaluation of different approaches for missing data imputation on features associated to genomic data.
- Published in:
- BioData Mining, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s13040-021-00274-7
- By:
- Publication type:
- Article
Stability of Attitudes to the Ethical Issues Raised by the Return of Incidental Genomic Research Findings in Children: A Follow-Up Study.
- Published in:
- Public Health Genomics, 2015, v. 18, n. 5, p. 299, doi. 10.1159/000439244
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- Publication type:
- Article
Exploring the Potential Emotional and Behavioural Impact of Providing Personalised Genomic Risk Information to the Public: A Focus Group Study.
- Published in:
- Public Health Genomics, 2015, v. 18, n. 5, p. 309, doi. 10.1159/000439246
- By:
- Publication type:
- Article
WilsonGenAI a deep learning approach to classify pathogenic variants in Wilson Disease.
- Published in:
- PLoS ONE, 2024, v. 19, n. 5, p. 1, doi. 10.1371/journal.pone.0303787
- By:
- Publication type:
- Article
Measuring the perceived wellbeing of hemodialysis patients: A Mind Genomics cartography.
- Published in:
- PLoS ONE, 2024, v. 19, n. 5, p. 1, doi. 10.1371/journal.pone.0302526
- By:
- Publication type:
- Article
Higher milk consumption is associated with a lower risk of diabetes mellitus: A case-control study.
- Published in:
- PLoS ONE, 2023, v. 18, n. 8, p. 1, doi. 10.1371/journal.pone.0289762
- By:
- Publication type:
- Article
GeneTerpret: a customizable multilayer approach to genomic variant prioritization and interpretation.
- Published in:
- BMC Medical Genomics, 2022, v. 15, n. 1, p. 1, doi. 10.1186/s12920-022-01166-3
- By:
- Publication type:
- Article
A novel missense variant in ESRRB gene causing autosomal recessive non-syndromic hearing loss: in silico analysis of a case.
- Published in:
- BMC Medical Genomics, 2022, v. 15, n. 1, p. 1, doi. 10.1186/s12920-022-01165-4
- By:
- Publication type:
- Article
Correction to: Novel deletion of exon 3 in TYR gene causing Oculocutaneous albinism 1B in an Indian family along with intellectual disability associated with chromosomal copy number variations.
- Published in:
- 2022
- By:
- Publication type:
- Correction Notice
A novel variant in FOXC1 associated with atypical Axenfeld-Rieger syndrome.
- Published in:
- BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-021-01130-7
- By:
- Publication type:
- Article
Detailed pedigree analyses and prenatal diagnosis for a family with mucopolysaccharidosis type II.
- Published in:
- BMC Medical Genomics, 2021, v. 14, p. 1, doi. 10.1186/s12920-021-01027-5
- By:
- Publication type:
- Article
New familial cases of karyomegalic interstitial nephritis with mutations in the FAN1 gene.
- Published in:
- BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-021-01009-7
- By:
- Publication type:
- Article