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ZMYND11‐related syndromic intellectual disability: 16 patients delineating and expanding the phenotypic spectrum.
- Published in:
- Human Mutation, 2020, v. 41, n. 5, p. 1042, doi. 10.1002/humu.24001
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- Article
Noninvasive Prenatal Diagnosis for Cystic Fibrosis: Implementation, Uptake, Outcome, and Implications.
- Published in:
- Clinical Chemistry, 2020, v. 66, n. 1, p. 207, doi. 10.1373/clinchem.2019.305011
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- Article
Phenotypic and Genotypic Characterisation of Inflammatory Bowel Disease Presenting Before the Age of 2 years.
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- Journal of Crohn's & Colitis, 2017, v. 11, n. 1, p. 60, doi. 10.1093/ecco-jcc/jjw118
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- Article
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
- Published in:
- 2016
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- Publication type:
- journal article
Non-invasive prenatal diagnosis (NIPD) for single gene disorders: cost analysis of NIPD and invasive testing pathways.
- Published in:
- 2016
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- Publication type:
- journal article
Favourable response to ketogenic dietary therapies: undiagnosed glucose 1 transporter deficiency syndrome is only one factor.
- Published in:
- 2015
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- Publication type:
- journal article
Non-invasive prenatal diagnosis for cystic fibrosis: detection of paternal mutations, exploration of patient preferences and cost analysis.
- Published in:
- 2015
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- Publication type:
- journal article
Exome sequencing for prenatal diagnosis of fetuses with sonographic abnormalities.
- Published in:
- 2015
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- Publication type:
- journal article
CHD2 variants are a risk factor for photosensitivity in epilepsy.
- Published in:
- Brain: A Journal of Neurology, 2015, v. 138, n. 5, p. 1198, doi. 10.1093/brain/awv052
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- Publication type:
- Article
A novel homozygous ERCC5 truncating mutation in a family with prenatal arthrogryposis-Further evidence of genotype-phenotype correlation.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 7, p. 1777, doi. 10.1002/ajmg.a.36506
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- Publication type:
- Article
ER and HER2 expression are positively correlated in HER2 non-overexpressing breast cancer.
- Published in:
- 2012
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- Publication type:
- journal article
ESR1 Is Co-Expressed with Closely Adjacent Uncharacterised Genes Spanning a Breast Cancer Susceptibility Locus at 6q25.1.
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- PLoS Genetics, 2011, v. 7, n. 4, p. 1, doi. 10.1371/journal.pgen.1001382
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- Article
Natural variation in crop composition and the impact of transgenesis.
- Published in:
- Nature Biotechnology, 2010, v. 28, n. 5, p. 402, doi. 10.1038/nbt0510-402
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- Article
ESR1 gene amplification in breast cancer: a common phenomenon?
- Published in:
- 2008
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- Publication type:
- Letter
Different Levels of Polybrominated Diphenyl Ethers (PBDEs) and Chlorinated Compounds in Breast Milk from Two U.K. Regions.
- Published in:
- Environmental Health Perspectives, 2004, v. 112, n. 10, p. 1085, doi. 10.1289/ehp.6991
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- Publication type:
- Article
Cloning and expression of cytosolic phosphoglycerate kinase from pea (Pisum sativum L.).
- Published in:
- Journal of Experimental Botany, 2004, v. 55, n. 398, p. 955, doi. 10.1093/jxb/erh096
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- Publication type:
- Article