Found: 13
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How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 4, p. 381, doi. 10.1038/ejhg.2011.220
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- Publication type:
- Article
Autoantibodies against Type I Interferons as an Additional Diagnostic Criterion for Autoimmune Polyendocrine Syndrome Type I.
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- Journal of Clinical Endocrinology & Metabolism, 2008, v. 93, n. 11, p. 4389, doi. 10.1210/jc.2008-0935
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- Publication type:
- Article
Corrigendum: Mutations in smooth muscle α-actin (ACTA2) lead to thoracic aortic aneurysms and dissections.
- Published in:
- 2008
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- Publication type:
- Correction notice
Mutations in smooth muscle α-actin (ACTA2) lead to thoracic aortic aneurysms and dissections.
- Published in:
- Nature Genetics, 2007, v. 39, n. 12, p. 1488, doi. 10.1038/ng.2007.6
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- Publication type:
- Article
Neovascular age-related macular degeneration risk based on CFH, LOC387715/HTRA1, and smoking.
- Published in:
- 2007
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- Publication type:
- journal article
The prevalence of thanatophoric dysplasia and lethal osteogenesis imperfecta type II in Northern Ireland - a complete population study.
- Published in:
- Ulster Medical Journal, 2010, v. 79, n. 3, p. 114
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- Publication type:
- Article
Identification and validation of a novel pathogenic variant in GDF2 (BMP9) responsible for hereditary hemorrhagic telangiectasia and pulmonary arteriovenous malformations.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 3, p. 959, doi. 10.1002/ajmg.a.62584
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- Publication type:
- Article
Clinical and genetic aspects of KBG syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 11, p. 2835, doi. 10.1002/ajmg.a.37842
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- Publication type:
- Article
Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 12, p. 2972, doi. 10.1002/ajmg.a.36229
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- Publication type:
- Article
Neonatal lethal Costello syndrome and unusual dinucleotide deletion/insertion mutations in HRAS predicting p.Gly12Val.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 5, p. 1102, doi. 10.1002/ajmg.a.35296
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- Publication type:
- Article
A Novel Splice-Site Mutation in VEGFC Is Associated with Congenital Primary Lymphoedema of Gordon.
- Published in:
- International Journal of Molecular Sciences, 2018, v. 19, n. 8, p. 2259, doi. 10.3390/ijms19082259
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- Publication type:
- Article
Deletions within COL11A1 in Type 2 stickler syndrome detected by multiplex ligationdependent probe amplification (MLPA).
- Published in:
- BMC Medical Genetics, 2013, v. 14, n. 1, p. 1, doi. 10.1186/1471-2350-14-48
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- Publication type:
- Article
IQSEC2‐related encephalopathy in males due to missense variants in the pleckstrin homology domain.
- Published in:
- Clinical Genetics, 2022, v. 102, n. 1, p. 72, doi. 10.1111/cge.14136
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- Publication type:
- Article