E-LIB Suche - Ergebnisse für: Ieva Micule

1

Altered Splicing of LAMP2 in a Multigenerational Family fro..:

Stavusis, Janis ; Micule, Ieva ; Grinfelde, Ieva...
Medicina. 60 (2024) 1 - p. 99 , 2024

Link: https://doi.org/10.3390/..

2

The phenotypic spectrum of PTCD3 deficiency:

Lace, Baiba ; Faqeih, Eissa ; Kaya, Namik...
JIMD Reports. , 2024

Link: https://doi.org/10.1002/..

3

Clinical and genetic characterization of Netherton syndrome..:

Nartisa, Inga ; Kirsteina, Rasa ; Neiburga, Katrina Daila...
Pediatric Allergy and Immunology. 34 (2023) 4 - p. , 2023

Link: https://doi.org/10.1111/..

4

The most common European HINT1 neuropathy variant phenotype..:

Rozevska, Marija ; Rots, Dmitrijs ; Gailite, Linda...
Frontiers in Neurology. 14 (2023) - p. , 2023

Link: https://doi.org/10.3389/..

5

CAPN3c.1746‐20C>G variant is hypomorphic for LGMD R1 calpai..:

Mroczek, Magdalena ; Inashkina, Inna ; Stavusis, Janis...
Human Mutation. 43 (2022) 10 - p. 1347-1353 , 2022

Link: https://doi.org/10.1002/..

6

Expanding the mutation and phenotype spectrum of MYH3-assoc..:

Zhao, Sen ; Zhang, Yuanqiang ; Hallgrimsdottir, Sigrun...
npj Genomic Medicine. 7 (2022) 1 - p. , 2022

Link: https://doi.org/10.1038/..

7

New-Born Screening for Spinal Muscular Atrophy: Results of ..:

Gailite, Linda ; Sterna, Olga ; Konika, Maija...
International Journal of Neonatal Screening. 8 (2022) 1 - p. 15 , 2022

Link: https://doi.org/10.3390/..

8

Phenotypic Variability and Diagnostic Characteristics in In..:

Millere, Elīna ; Kupats, Einārs ; Mičule, Ieva..
Proceedings of the Latvian Academy of Sciences. Section B. Natural, Exact, and Applied Sciences.. 76 (2022) 2 - p. 232-238 , 2022

Link: https://doi.org/10.2478/..

9

Case Report: Two Families With HPDL Related Neurodegenerati..:

Micule, Ieva ; Lace, Baiba ; Wright, Nathan T....
Frontiers in Genetics. 13 (2022) - p. , 2022

Link: https://doi.org/10.3389/..

10

Kohlschütter–Tönz syndrome: Case report with novel feature ..:

Liepina, Lelde ; Kalnina, Marija Luize ; Micule, Ieva...
American Journal of Medical Genetics Part A. 188 (2021) 4 - p. 1263-1279 , 2021

Link: https://doi.org/10.1002/..

11

Plasma neurofilament light chain as a potential biomarker i..:

Millere, Elina ; Rots, Dmitrijs ; Simrén, Joel...
European Journal of Neurology. 28 (2021) 3 - p. 974-981 , 2021

Link: https://doi.org/10.1111/..

12

Two Cases of Leigh Syndrome in One Family: Diagnostic Chall..:

Katkevica, Arta ; Kreile, Madara ; Grinfelde, Ieva...
Case Reports in Medicine. 2021 (2021) - p. 1-5 , 2021

Link: https://doi.org/10.1155/..

13

Collagen VI-related limb-girdle syndrome caused by frequent..:

Stavusis, Janis ; Micule, Ieva ; Wright, Nathan T....
Neuromuscular Disorders. 30 (2020) 6 - p. 483-491 , 2020

Link: https://doi.org/10.1016/..

14

Genetic variation spectrum in ATP7B gene identified in Latv..:

Zarina, Agnese ; Tolmane, Ieva ; Kreile, Madara...
Molecular Genetics & Genomic Medicine. 5 (2017) 4 - p. 405-409 , 2017

Link: https://doi.org/10.1002/..

15

Robust genotyping tool for autosomal recessive type of limb..:

Inashkina, Inna ; Jankevics, Eriks ; Stavusis, Janis...
BMC Musculoskeletal Disorders. 17 (2016) 1 - p. , 2016

Link: https://doi.org/10.1186/..