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A New 3p14.2 Microdeletion in a Patient with Intellectual Disability and Language Impairment: Case Report and Review of the Literature.
- Published in:
- Molecular Syndromology, 2018, v. 9, n. 4, p. 175, doi. 10.1159/000489842
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- Article
Double Interstitial Deletion of the Long Arm of Chromosome 6 in a Patient with Pierre Robin Sequence, Dysmorphisms, and Severe Developmental Delay.
- Published in:
- Molecular Syndromology, 2017, v. 9, n. 1, p. 30, doi. 10.1159/000480159
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- Article
Koolen‐de Vries syndrome in a 63‐year‐old woman: Report of the oldest patient and a review of the adult phenotype.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 2, p. 692, doi. 10.1002/ajmg.a.62536
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- Article
New Patients with Temple Syndrome Caused by 14q32 Deletion: Genotype-Phenotype Correlations and Risk of Thyroid Cancer.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 1, p. 162, doi. 10.1002/ajmg.a.37346
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- Article
Mutation Load of Multiple Ion Channel Gene Mutations in Brugada Syndrome.
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- Cardiology, 2017, v. 137, n. 4, p. 256, doi. 10.1159/000471792
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- Article
Genetic Heterogeneity and Human Disease.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 4, p. 559, doi. 10.1038/ejhg.2015.2
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- Article
Workload measurement for molecular genetics laboratory: A survey study.
- Published in:
- PLoS ONE, 2018, v. 13, n. 11, p. 1, doi. 10.1371/journal.pone.0206855
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- Article
A new mutation (TTR Ala-47) in the transthyretin gene associated with hereditary amyloidosis.
- Published in:
- Human Mutation, 1994, v. 4, n. 1, p. 61, doi. 10.1002/humu.1380040110
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- Article