Detalles de la búsqueda
1.
The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.
Am J Hum Genet
; 110(6): 963-978, 2023 06 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-37196654
2.
Expanding the phenotype of Kleefstra syndrome: speech, language and cognition in 103 individuals.
J Med Genet
; 61(6): 578-585, 2024 May 21.
Artículo
en Inglés
| MEDLINE | ID: mdl-38290825
3.
Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature.
Am J Hum Genet
; 108(6): 1053-1068, 2021 06 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-33909990
4.
Refining the 9q34.3 microduplication syndrome reveals mild neurodevelopmental features associated with a distinct global DNA methylation profile.
Clin Genet
; 105(6): 655-660, 2024 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-38384171
5.
DeNovoCNN: a deep learning approach to de novo variant calling in next generation sequencing data.
Nucleic Acids Res
; 50(17): e97, 2022 09 23.
Artículo
en Inglés
| MEDLINE | ID: mdl-35713566
6.
Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature.
Genet Med
; 25(1): 49-62, 2023 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-36322151
7.
Clinical and genetic characterization of Netherton syndrome due to SPINK5 founder variant in Latvian population.
Pediatr Allergy Immunol
; 34(4): e13937, 2023 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-37102386
8.
Plasma neurofilament light chain level is not a biomarker of Charcot-Marie-Tooth disease progression: Results of 3-year follow-up study.
Eur J Neurol
; 30(8): 2453-2460, 2023 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-37165526
9.
Prevalence of polyneuropathies among systemic sclerosis patients and impact on health-related quality of life.
Neurol Neurochir Pol
; 57(2): 206-211, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-36916493
10.
Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein.
Genet Med
; 24(10): 2051-2064, 2022 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-35833929
11.
Kohlschütter-Tönz syndrome: Case report with novel feature and detailed review of features associated with ROGDI variants.
Am J Med Genet A
; 188(4): 1263-1279, 2022 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-34939736
12.
Plasma neurofilament light chain as a potential biomarker in Charcot-Marie-Tooth disease.
Eur J Neurol
; 28(3): 974-981, 2021 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-33340200
13.
A Higher Polygenic Risk Score Is Associated with a Higher Recurrence Rate of Atrial Fibrillation in Direct Current Cardioversion-Treated Patients.
Medicina (Kaunas)
; 57(11)2021 Nov 18.
Artículo
en Inglés
| MEDLINE | ID: mdl-34833481
14.
Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein.
Genet Med
; 25(11): 100962, 2023 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-37658852
15.
Case report: multiple UGT1A1 gene variants in a patient with Crigler-Najjar syndrome.
BMC Pediatr
; 18(1): 317, 2018 10 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-30285761
16.
Influence of IL15 gene variations on the clinical features, treatment response and risk of developing childhood acute lymphoblastic leukemia in Latvian population.
Pediatr Hematol Oncol
; 35(1): 37-44, 2018 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-29528261
17.
Hereditary or acquired? Comprehensive genetic testing assists in stratifying angioedema patients.
Allergy Asthma Clin Immunol
; 20(1): 28, 2024 Mar 30.
Artículo
en Inglés
| MEDLINE | ID: mdl-38555427
18.
Exploring disease-specific metabolite signatures in hereditary angioedema patients.
Front Immunol
; 15: 1324671, 2024.
Artículo
en Inglés
| MEDLINE | ID: mdl-38726011
19.
A new blood DNA methylation signature for Koolen-de Vries syndrome: Classification of missense KANSL1 variants and comparison to fibroblast cells.
Eur J Hum Genet
; 32(3): 324-332, 2024 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-38282074
20.
National survey on clinical and genetic characteristics of patients with hereditary angioedema in Latvia.
Allergy Asthma Clin Immunol
; 19(1): 28, 2023 Apr 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-37031173