Found: 6
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New Patients with Temple Syndrome Caused by 14q32 Deletion: Genotype-Phenotype Correlations and Risk of Thyroid Cancer.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 1, p. 162, doi. 10.1002/ajmg.a.37346
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- Publication type:
- Article
A de novo 0.63 Mb 6q25.1 deletion associated with growth failure, congenital heart defect, underdeveloped cerebellar vermis, abnormal cutaneous elasticity and joint laxity.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 9, p. 2042, doi. 10.1002/ajmg.a.37118
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- Publication type:
- Article
Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein-Taybi syndrome: the interconnections of epigenetic machinery disorders.
- Published in:
- Human Genetics, 2019, v. 138, n. 3, p. 257, doi. 10.1007/s00439-019-01985-y
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- Article
Nonalcoholic Fatty Liver Disease/Non-Alcoholic Steatohepatitis in Childhood: Endocrine-Metabolic 'Mal-Programming'.
- Published in:
- 2014
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- Publication type:
- Journal Article
Nonalcoholic Fatty Liver Disease/Non-Alcoholic Steatohepatitis in Childhood: Endocrine-Metabolic "Mal-Programming".
- Published in:
- Hepatitis Monthly, 2014, v. 14, n. 5, p. 1, doi. 10.5812/hepatmon.17641
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- Publication type:
- Article
Inflammatory bowel disease: genetics, epigenetics, and pathogenesis.
- Published in:
- Frontiers in Immunology, 2015, v. 6, p. 1, doi. 10.3389/fimmu.2015.00551
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- Publication type:
- Article