Detalhe da pesquisa
1.
Clinical and genetic characterization of Netherton syndrome due to SPINK5 founder variant in Latvian population.
Pediatr Allergy Immunol
; 34(4): e13937, 2023 04.
Artigo
Inglês
| MEDLINE | ID: mdl-37102386
2.
The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy.
medRxiv
; 2024 Mar 29.
Artigo
Inglês
| MEDLINE | ID: mdl-38585825
3.
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.
Biomolecules
; 14(3)2024 Mar 19.
Artigo
Inglês
| MEDLINE | ID: mdl-38540785
4.
Mother and Daughter with Short Stature, Microcephaly, Mild Dysmorphic Features, and Learning Disabilities Due to Ververi-Brady Syndrome Associated with a New Variant of the QRICH1 Gene.
Am J Case Rep
; 24: e939217, 2023 May 22.
Artigo
Inglês
| MEDLINE | ID: mdl-37211757
5.
The First Registered Type 0 Spinal Muscular Atrophy Patient in Latvia: Call for Change in Prenatal Diagnostic Procedures.
Case Rep Med
; 2023: 3480298, 2023.
Artigo
Inglês
| MEDLINE | ID: mdl-37303748
6.
Clinical and Genetic Characterisation of Cystic Fibrosis Patients in Latvia: A Twenty-Five-Year Experience.
Diagnostics (Basel)
; 12(11)2022 Nov 21.
Artigo
Inglês
| MEDLINE | ID: mdl-36428953
7.
Overview of Neuromuscular Disorder Molecular Diagnostic Experience for the Population of Latvia.
Neurol Genet
; 8(3): e685, 2022 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-36381256
8.
Two Cases of Leigh Syndrome in One Family: Diagnostic Challenges and Clinical Management Experience in Latvia.
Case Rep Med
; 2021: 5266820, 2021.
Artigo
Inglês
| MEDLINE | ID: mdl-34868319
9.
GJB1 Gene Analysis in Two Extended Families with X-Linked Charcot-Marie-Tooth Disease.
Case Rep Neurol
; 13(2): 422-428, 2021.
Artigo
Inglês
| MEDLINE | ID: mdl-34326750
10.
The need for widely available genomic testing in rare eye diseases: an ERN-EYE position statement.
Orphanet J Rare Dis
; 16(1): 142, 2021 03 20.
Artigo
Inglês
| MEDLINE | ID: mdl-33743793
11.
A Giant Arteriovenous Malformation and Fistula in a Newborn with Parkes Weber Syndrome. Case Report.
Acta Med Litu
; 27(2): 90-99, 2020.
Artigo
Inglês
| MEDLINE | ID: mdl-34113214
12.
Clinical Phenotyping and Biomarkers in Spinal and Bulbar Muscular Atrophy.
Front Neurol
; 11: 586610, 2020.
Artigo
Inglês
| MEDLINE | ID: mdl-33551952