Found: 9
Select item for more details and to access through your institution.
A novel de novo truncating variant in a Hungarian patient with CTNNB1 neurodevelopmental disorder.
- Published in:
- 2024
- By:
- Publication type:
- Case Study
Novel heterozygous STUB1 gene mutation causes SCA48 in a Hungarian patient.
- Published in:
- Clinical Neuroscience / Ideggyógyászati Szemle, 2023, v. 76, n. 1/2, p. 63, doi. 10.18071/isz.76.0063
- By:
- Publication type:
- Article
Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III.
- Published in:
- Nature Communications, 2015, v. 6, n. 7, p. 7623, doi. 10.1038/ncomms8623
- By:
- Publication type:
- Article
Spectrum of Neurodevelopmental Disabilities: A Cohort Study in Hungary.
- Published in:
- Journal of Child Neurology, 2015, v. 30, n. 3, p. 344, doi. 10.1177/0883073814532543
- By:
- Publication type:
- Article
Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome.
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/1750-1172-9-72
- By:
- Publication type:
- Article
Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome.
- Published in:
- 2014
- By:
- Publication type:
- case study
Seizure-Induced Alterations in Cerebrovascular Function in the Neonate.
- Published in:
- Developmental Neuroscience, 2008, v. 30, n. 5, p. 293, doi. 10.1159/000142735
- By:
- Publication type:
- Article
Acetazolamide induces indomethacin and ischaemia-sensitive pial arteriolar vasodilation in the piglet.
- Published in:
- Acta Paediatrica, 2008, v. 97, n. 3, p. 280, doi. 10.1111/j.1651-2227.2007.00615.x
- By:
- Publication type:
- Article
Reventilation with room air or 100% oxygen after asphyxia differentially affects cerebral neuropathology in newborn pigs.
- Published in:
- Acta Paediatrica, 2006, v. 95, n. 9, p. 1109, doi. 10.1080/08035250600717139
- By:
- Publication type:
- Article