Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Mareta Audere"'
Autor:
Valentina Cipriani, Raquel S. Silva, Gavin Arno, Nikolas Pontikos, Ambreen Kalhoro, Sandra Valeina, Inna Inashkina, Mareta Audere, Katrina Rutka, Bernard Puech, Michel Michaelides, Veronica van Heyningen, Baiba Lace, Andrew R. Webster, Anthony T. Moore
Publikováno v:
Scientific Reports, Vol 7, Iss 1, Pp 1-9 (2017)
Abstract Autosomal dominant North Carolina macular dystrophy (NCMD) is believed to represent a failure of macular development. The disorder has been linked to two loci, MCDR1 (chromosome 6q16) and MCDR3 (chromosome 5p15-p13). Recently, non-coding var
Externí odkaz:
https://doaj.org/article/2d372407022b447ebe6a08634c10139b
Autor:
Mareta Audere, Katrina Rutka, Inna Inaskina, Raitis Peculis, Svetlana Sepetiene, Sandra Valeina, Baiba Lāce
Publikováno v:
Medicina, Vol 52, Iss 3, Pp 180-186 (2016)
Background and objective: North Carolina macular dystrophy (NCMD) is a very rare autosomal dominant hereditary disease. Up to date there are three types of NCMD described and consequently named macular dystrophy, retinal: MCDR1, MCDR2 and MCDR3. The
Externí odkaz:
https://doaj.org/article/4e60906f30fd4cfaa62f238b5d84880e
Autor:
Inna Inaskina, Katrina Rutka, Raitis Peculis, Svetlana Sepetiene, Mareta Audere, Sandra Valeina, Baiba Lāce
Publikováno v:
Medicina
Volume 52
Issue 3
Pages 180-186
Medicina, Vol 52, Iss 3, Pp 180-186 (2016)
Medicina; Volume 52; Issue 3; Pages: 180-186
Volume 52
Issue 3
Pages 180-186
Medicina, Vol 52, Iss 3, Pp 180-186 (2016)
Medicina; Volume 52; Issue 3; Pages: 180-186
Background and objective: North Carolina macular dystrophy (NCMD) is a very rare autosomal dominant hereditary disease. Up to date there are three types of NCMD described and consequently named macular dystrophy, retinal: MCDR1, MCDR2 and MCDR3. The
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::343dc0ec4baa7f2e0f55d880115e8832
https://doi.org/10.1016/j.medici.2016.04.001
https://doi.org/10.1016/j.medici.2016.04.001
Autor:
Inna Inashkina, S. Kuske, Mareta Audere, Dita Pelnena, Janis Stavusis, Ieva Micule, M. Celmina, Jurgis Strautmanis, J. Pereca
Publikováno v:
Clinical genetics. 95(1)
EAST (Epilepsy, Ataxia, Sensorineural deafness, Tubulopathy) or SeSAME (Seizures, Sensorineural deafness, Ataxia, Mental retardation, and Electrolyte imbalance) syndrome is a rare autosomal recessive syndrome first described in 2009 independently by
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3917ecfa486b14d9cce55f2fc15f29cf
https://pubmed.ncbi.nlm.nih.gov/29722015
https://pubmed.ncbi.nlm.nih.gov/29722015
Autor:
Michel Michaelides, Valentina Cipriani, Sandra Valeina, Nikolas Pontikos, Andrew R. Webster, Gavin Arno, Bernard Puech, Inna Inashkina, Veronica van Heyningen, Raquel S. Silva, Mareta Audere, Baiba Lace, Anthony T. Moore, Katrina Rutka, Ambreen Kalhoro
Publikováno v:
Scientific reports, vol 7, iss 1
Scientific Reports, Vol 7, Iss 1, Pp 1-9 (2017)
Scientific Reports
Scientific Reports, Vol 7, Iss 1, Pp 1-9 (2017)
Scientific Reports
Autosomal dominant North Carolina macular dystrophy (NCMD) is believed to represent a failure of macular development. The disorder has been assigned by linkage to two loci, MCDR1 on chromosome 6q16 and MCDR3 on chromosome 5p15-p13. Recently, noncodin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0c385ca7fab2ddaff1e22b0a3e97be05
https://escholarship.org/uc/item/2m70f0qc
https://escholarship.org/uc/item/2m70f0qc
Autor:
Verkleij, Mirjam L., Heijnsdijk, Eveline A. M., Bussé, Andrea M. L., Carr, Gwen, Goedegebure, André, Mackey, Allison R., Qirjazi, Birkena, Uhlén, Inger M., Sloot, Frea, Hoeve, Hans L. J., de Koning, Harry J., Country-Committees Joint-Partnership of EUSCREEN Study Consortium
Publikováno v:
Ear & Hearing (01960202); Jul/Aug2021, Vol. 42 Issue 4, p909-916, 8p