Found: 7
Select item for more details and to access through your institution.
Acceptance of preimplantation genetic diagnosis for β-thalassemia in Lebanese women with previously affected children.
- Published in:
- Prenatal Diagnosis, 2008, v. 28, n. 9, p. 828, doi. 10.1002/pd.2067
- By:
- Publication type:
- Article
PI4K2A deficiency causes innate error in intracellular trafficking with developmental and epileptic-dyskinetic encephalopathy.
- Published in:
- Annals of Clinical & Translational Neurology, 2022, v. 9, n. 9, p. 1345, doi. 10.1002/acn3.51634
- By:
- Publication type:
- Article
A homozygous missense variant in PTPN2 with early-onset Crohn's disease, growth failure and dysmorphic features in an infant: a case report.
- Published in:
- Journal of Genetics, 2023, v. 102, n. 2, p. 1, doi. 10.1007/s12041-023-01433-x
- By:
- Publication type:
- Article
Novel SCN9A variant associated with congenital insensitivity to pain.
- Published in:
- Molecular Biology Reports, 2023, v. 50, n. 7, p. 6293, doi. 10.1007/s11033-023-08507-0
- By:
- Publication type:
- Article
BACs-on-Beads™ assay, a rapid aneuploidy test, improves the diagnostic yield of conventional karyotyping.
- Published in:
- Molecular Biology Reports, 2020, v. 47, n. 1, p. 169, doi. 10.1007/s11033-019-05117-7
- By:
- Publication type:
- Article
CFTR mutational screening by next‐generation sequencing reveals novel variants and a high carrier rate in a Middle Eastern population.
- Published in:
- Annals of Human Genetics, 2022, v. 86, n. 2, p. 80, doi. 10.1111/ahg.12450
- By:
- Publication type:
- Article
Analysis of ASS1 gene in ten unrelated middle eastern families with citrullinemia type 1 identifies rare and novel variants.
- Published in:
- Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 2, p. 1, doi. 10.1002/mgg3.2058
- By:
- Publication type:
- Article