Found: 6
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Mosaic KRAS mutation in a patient with encephalocraniocutaneous lipomatosis and renovascular hypertension.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 11, p. 2523, doi. 10.1002/ajmg.a.40349
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- Publication type:
- Article
A novel patient with an attenuated Costello syndrome phenotype due to an HRAS mutation affecting codon 146-Literature review and update.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 4, p. 1109, doi. 10.1002/ajmg.a.38118
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- Publication type:
- Article
Cost-effectiveness analysis of chromosomal microarray as a primary test for prenatal diagnosis in Hong Kong.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Exome sequencing identifies molecular diagnosis in children with drug‐resistant epilepsy.
- Published in:
- Epilepsia Open, 2019, v. 4, n. 1, p. 63, doi. 10.1002/epi4.12282
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- Publication type:
- Article
Identification of mutations in the PI3K-AKT-mTOR signalling pathway in patients with macrocephaly and developmental delay and/or autism.
- Published in:
- Molecular Autism, 2017, v. 8, p. 1, doi. 10.1186/s13229-017-0182-4
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- Publication type:
- Article
Use of clinical chromosomal microarray in Chinese patients with autism spectrum disorder--implications of a copy number variation involving DPP10.
- Published in:
- Molecular Autism, 2017, v. 8, p. 1, doi. 10.1186/s13229-017-0136-x
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- Publication type:
- Article