Found: 11
Select item for more details and to access through your institution.
Identification of likely associations between cerebral folate deficiency and complex genetic- and metabolic pathogenesis of autism spectrum disorders by utilization of a pilot interaction modeling approach.
- Published in:
- Autism Research: Official Journal of the International Society for Autism Research, 2017, v. 10, n. 8, p. 1424, doi. 10.1002/aur.1780
- By:
- Publication type:
- Article
Expanded DMPK repeats in dizygotic twins referred for diagnosis of autism versus absence of expanded DMPK repeats at screening of 330 children with autism.
- Published in:
- Neuropsychiatric Disease & Treatment, 2016, v. 12, p. 2367, doi. 10.2147/NDT.S113917
- By:
- Publication type:
- Article
Expanding the phenotype spectrum associated with pathogenic variants in the COL2A1 and COL11A1 genes.
- Published in:
- Annals of Human Genetics, 2020, v. 84, n. 5, p. 380, doi. 10.1111/ahg.12386
- By:
- Publication type:
- Article
Spectrum and Frequency of SLC26A4 Mutations Among Czech Patients with Early Hearing Loss with and without Enlarged Vestibular Aqueduct (EVA).
- Published in:
- Annals of Human Genetics, 2010, v. 74, n. 4, p. 299, doi. 10.1111/j.1469-1809.2010.00581.x
- By:
- Publication type:
- Article
Long-term anatomical and functional outcomes of surgical treatment of retinal complications in children and adolescents with Stickler syndrome between 2004 and 2021.
- Published in:
- Graefe's Archive of Clinical & Experimental Ophthalmology, 2023, v. 261, n. 6, p. 1723, doi. 10.1007/s00417-022-05960-8
- By:
- Publication type:
- Article
Speech Perception and Production in Cochlear Implant Recipients with Pendred Syndrome.
- Published in:
- Balkan Medical Journal, 2021, v. 38, n. 4, p. 244, doi. 10.5152/balkanmedj.2021.20182
- By:
- Publication type:
- Article
Pendred syndrome among patients with congenital hypothyroidism detected by neonatal screening: identification of two novel PDS/SLC26A4 mutations.
- Published in:
- 2008
- By:
- Publication type:
- journal article
A boy with developmental delay and mosaic supernumerary inv dup(5)(p15.33p15.1) leading to distal 5p tetrasomy – case report and review of the literature.
- Published in:
- 2018
- By:
- Publication type:
- Case Study
The Key Role of Purine Metabolism in the Folate-Dependent Phenotype of Autism Spectrum Disorders: An In Silico Analysis.
- Published in:
- Metabolites (2218-1989), 2020, v. 10, n. 5, p. 184, doi. 10.3390/metabo10050184
- By:
- Publication type:
- Article
Long term follow-up in a patient with a de novo microdeletion of 14q11.2 involving CHD8.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 4, p. 837, doi. 10.1002/ajmg.a.36957
- By:
- Publication type:
- Article
Molecular Cytogenetic Diagnostics of Marker Chromosomes: Analysis in Four Prenatal Cases and Long-Term Clinical Evaluation of Carriers.
- Published in:
- Cytogenetic & Genome Research, 2018, v. 154, n. 4, p. 187, doi. 10.1159/000488790
- By:
- Publication type:
- Article