Found: 5
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Clinical and molecular data in cases of prenatal localized overgrowth disorder: major implication of genetic variants in PI3K‐AKT‐mTOR signaling pathway.
- Published in:
- Ultrasound in Obstetrics & Gynecology, 2022, v. 59, n. 4, p. 532, doi. 10.1002/uog.23715
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- Publication type:
- Article
Prenatal presentation of Aicardi-Goutières syndrome: Nonspecific phenotype necessitates exome sequencing for definitive diagnosis.
- Published in:
- 2019
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- Publication type:
- journal article
A novel homozygous KCNQ3 loss‐of‐function variant causes non‐syndromic intellectual disability and neonatal‐onset pharmacodependent epilepsy.
- Published in:
- Epilepsia Open, 2019, v. 4, n. 3, p. 464, doi. 10.1002/epi4.12353
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- Publication type:
- Article
Extending the ALDH18A1 clinical spectrum to severe autosomal recessive fetal cutis laxa with corpus callosum agenesis.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 11, p. 2509, doi. 10.1002/ajmg.a.40515
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- Publication type:
- Article
Application of whole-exome sequencing to unravel the molecular basis of undiagnosed syndromic congenital neutropenia with intellectual disability.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 1, p. 62, doi. 10.1002/ajmg.a.37969
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- Publication type:
- Article