Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Daiga Murmane"'
Autor:
Sabine Kovale, Ruta Terauda, Elina Millere, Gita Taurina, Daiga Murmane, Jekaterina Isakova, Viktorija Kenina, Linda Gailite
Publikováno v:
Case Reports in Neurology, Vol 13, Iss 2, Pp 422-428 (2021)
X-linked Charcot-Marie-Tooth (CMT) disease type I (CMTX1) is the second most frequent type of CMT disease caused by pathogenic variants in the GJB1 gene. We described 2 extended cases (families) with CMTX1 with identified pathogenic variants – p.Va
Externí odkaz:
https://doaj.org/article/30bb1c773fa74c88a1a7c25907d4fa00
Autor:
Inga Nartisa, Rasa Kirsteina, Katrina Daila Neiburga, Sanita Zigure, Lota Ozola, Ineta Grantina, Ieva Micule, Daiga Murmane, Baiba Slisere, Linda Gailite, Baiba Vilne, Dmitrijs Rots, Gita Taurina, Natalja Kurjane
Publikováno v:
Pediatric Allergy and Immunology, 34
Pediatric Allergy and Immunology, 34, 4
Pediatric Allergy and Immunology, 34, 4
Contains fulltext : 292339.pdf (Publisher’s version ) (Open Access) OBJECTIVE: Netherton syndrome (NS) (OMIM:256500) is a very rare autosomal recessive multisystem disorder mostly affecting ectodermal derivatives (skin and hair) and immune system.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a8d962a29308c4938b0dfc455ea8b2d1
https://hdl.handle.net/https://repository.ubn.ru.nl/handle/2066/292339
https://hdl.handle.net/https://repository.ubn.ru.nl/handle/2066/292339
Autor:
Zanda Daneberga, Miki Nakazawa-Miklasevica, Egija Berga-Svitina, Daiga Murmane, Dana Isarova, Liene Cupane, Madara Masinska, Inga Nartisa, Andzela Lazdane, Edvins Miklasevics
Publikováno v:
Nordic Journal of Psychiatry. 76:523-529
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cf75b33acf282f471430397335b8c21b
https://doi.org/10.1080/08039488.2021.2014954
https://doi.org/10.1080/08039488.2021.2014954
Autor:
Daiga Murmane, Elina Millere, Jekaterina Isakova, Sabine Kovale, Ruta Terauda, Viktorija Kenina, Linda Gailite, Gita Taurina
Publikováno v:
Case Reports in Neurology. 13:422-428
X-linked Charcot-Marie-Tooth (CMT) disease type I (CMTX1) is the second most frequent type of CMT disease caused by pathogenic variants in the GJB1 gene. We described 2 extended cases (families) with CMTX1 with identified pathogenic variants – p.Va
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::626dbae799a065365b387cc63f0f9d90
https://doi.org/10.1159/000515170
https://doi.org/10.1159/000515170
Autor:
Baiba Lace, Ieva Micule, Viktorija Kenina, Signe Setlere, Jurgis Strautmanis, Inese Kazaine, Gita Taurina, Daiga Murmane, Ieva Grinfelde, Liene Kornejeva, Zita Krumina, Olga Sterna, Ilze Radovica-Spalvina, Inta Vasiljeva, Linda Gailite, Janis Stavusis, Diana Livcane, Dita Kidere, Ieva Malniece, Inna Inashkina
Publikováno v:
Neurology. Genetics. 8(3)
Background and ObjectivesGenetic testing has become an integral part of health care, allowing the confirmation of thousands of hereditary diseases, including neuromuscular disorders (NMDs). The reported average prevalence of individual inherited NMDs
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::66c8215a25fc61b6bb843a58a02f51b5
https://pubmed.ncbi.nlm.nih.gov/36381256
https://pubmed.ncbi.nlm.nih.gov/36381256
Autor:
Kristine Pavlovica, Arvids Irmejs, Margit Noukas, Marili Palover, Mart Kals, Neeme Tonisson, Andres Metspalu, Jacek Gronwald, Jan Lubinski, Daiga Murmane, Agnese Kalnina, Peteris Loza, Jelena Maksimenko, Genadijs Trofimovics, Signe Subatniece, Zanda Daneberga, Edvins Miklasevics, Janis Gardovskis
Publikováno v:
European journal of medical genetics. 65(5)
While BRCA1/2 gene mutational spectrum and clinical features are widely studied, there is limited data on breast cancer-predisposing non-BRCA pathogenic/likely pathogenic variants (PV/LPVs) in the Baltic states region. According to previous studies,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::892217ad7d69a567152e4244266f841a
https://pubmed.ncbi.nlm.nih.gov/35314380
https://pubmed.ncbi.nlm.nih.gov/35314380