Found: 22
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Cardiomyopathies in 100,000 genomes project: interval evaluation improves diagnostic yield and informs strategies for ongoing gene discovery.
- Published in:
- Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01390-9
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- Publication type:
- Article
Treatment of Multisystem Inflammatory Syndrome in Children: Understanding Differences in Results of Comparative Effectiveness Studies.
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- ACR Open Rheumatology, 2022, v. 4, n. 9, p. 804, doi. 10.1002/acr2.11478
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- Publication type:
- Article
A Panel-Agnostic Strategy 'HiPPo' Improves Diagnostic Efficiency in the UK Genomic Medicine Service.
- Published in:
- Healthcare (2227-9032), 2023, v. 11, n. 24, p. 3179, doi. 10.3390/healthcare11243179
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- Article
Strategies to Uplift Novel Mendelian Gene Discovery for Improved Clinical Outcomes.
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- Frontiers in Genetics, 2021, v. 11, p. 1, doi. 10.3389/fgene.2021.674295
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- Publication type:
- Article
Targeting de novo loss-of-function variants in constrained disease genes improves diagnostic rates in the 100,000 Genomes Project.
- Published in:
- Human Genetics, 2023, v. 142, n. 3, p. 351, doi. 10.1007/s00439-022-02509-x
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- Publication type:
- Article
Deleterious coding variants in multi-case families with non-syndromic cleft lip and/or palate phenotypes.
- Published in:
- Scientific Reports, 2016, p. 30457, doi. 10.1038/srep30457
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- Publication type:
- Article
Impaired expression of metallothioneins contributes to allergen-induced inflammation in patients with atopic dermatitis.
- Published in:
- Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-38588-1
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- Publication type:
- Article
The Efficacy of Frontline Near‐Peer Teaching in a Modern Medical Curriculum.
- Published in:
- Anatomical Sciences Education, 2019, v. 12, n. 3, p. 236, doi. 10.1002/ase.1827
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- Publication type:
- Article
Can medical students accurately predict their learning? A study comparing perceived and actual performance in neuroanatomy.
- Published in:
- Anatomical Sciences Education, 2016, v. 9, n. 5, p. 488, doi. 10.1002/ase.1601
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- Publication type:
- Article
The benefits of being a near‐peer teacher.
- Published in:
- Clinical Teacher, 2018, v. 15, n. 5, p. 403, doi. 10.1111/tct.12784
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- Publication type:
- Article
A novel variant in GATM causes idiopathic renal Fanconi syndrome and predicts progression to end‐stage kidney disease.
- Published in:
- Clinical Genetics, 2023, v. 103, n. 2, p. 214, doi. 10.1111/cge.14235
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- Publication type:
- Article
Thrombotic microangiopathy following haematopoietic stem cell transplant.
- Published in:
- Pediatric Nephrology, 2018, v. 33, n. 9, p. 1489, doi. 10.1007/s00467-017-3803-4
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- Publication type:
- Article
The Pediatric Crohn Disease Morbidity Index (PCD-MI): Development of a Tool to Assess Long-Term Disease Burden Using a Data-Driven Approach.
- Published in:
- Journal of Pediatric Gastroenterology & Nutrition, 2023, v. 77, n. 1, p. 70, doi. 10.1097/MPG.0000000000003793
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- Publication type:
- Article
Autosomal dominant tubulointerstitial kidney disease-UMOD is the most frequent non polycystic genetic kidney disease.
- Published in:
- 2018
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- Publication type:
- journal article
De novo putative loss‐of‐function variants in TAF4 are associated with a neuro‐developmental disorder.
- Published in:
- Human Mutation, 2022, v. 43, n. 12, p. 1844, doi. 10.1002/humu.24444
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- Publication type:
- Article
A Palindrome-Like Structure on 16p13.3 Is Associated with the Formation of Complex Structural Variations and SRRM2 Haploinsufficiency.
- Published in:
- Human Mutation, 2023, p. 1, doi. 10.1155/2023/6633248
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- Publication type:
- Article
Inactivation of <italic>AMMECR1</italic> is associated with growth, bone, and heart alterations.
- Published in:
- Human Mutation, 2018, v. 39, n. 2, p. 281, doi. 10.1002/humu.23373
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- Publication type:
- Article
Collagen (COL4A) mutations are the most frequent mutations underlying adult focal segmental glomerulosclerosis.
- Published in:
- Nephrology Dialysis Transplantation, 2016, v. 31, n. 6, p. 961, doi. 10.1093/ndt/gfv325
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- Publication type:
- Article
Challenges in the diagnosis and discovery of rare genetic disorders using contemporary sequencing technologies.
- Published in:
- Briefings in Functional Genomics, 2020, v. 19, n. 4, p. 243, doi. 10.1093/bfgp/elaa009
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- Publication type:
- Article
Exome sequencing explained: a practical guide to its clinical application.
- Published in:
- Briefings in Functional Genomics, 2016, v. 15, n. 5, p. 374, doi. 10.1093/bfgp/elv054
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- Publication type:
- Article
A Role for Genetic Modifiers in Tubulointerstitial Kidney Diseases.
- Published in:
- Genes, 2023, v. 14, n. 8, p. 1582, doi. 10.3390/genes14081582
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- Publication type:
- Article
NOD2 in Crohn's Disease—Unfinished Business.
- Published in:
- Journal of Crohn's & Colitis, 2023, v. 17, n. 3, p. 450, doi. 10.1093/ecco-jcc/jjac124
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- Publication type:
- Article