Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Anna, Sandestig"'
Publikováno v:
Molecular Syndromology. 10:281-285
The DLG3 gene is located at Xq13.1 and encodes SAP102, a member of the MAGUK protein family, extensively expressed in the brain and involved in synaptic function. Mutations in DLG3 are associated with a rare nonsyndromic form of X-linked intellectual
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0b7242a55163128bed6d75871cd43cf3
https://doi.org/10.1159/000502601
https://doi.org/10.1159/000502601
Autor:
Margarita Stefanova, Alexander Pepler, Saskia Biskup, Anna Sandestig, Anja Holz, Per Odelberg-Johnsson, Ingela Danielsson, Karolina Engström
Publikováno v:
Molecular Syndromology. 10:313-319
There is no clearly established association between the gene NUP188 and human pathology. Only a few reports of patients with different clinical presentation and different heterozygous or compound heterozygous missense or splice region variants have b
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1bac7b7a6785d113ce7a926b232eca8d
https://doi.org/10.1159/000504818
https://doi.org/10.1159/000504818
Autor:
Saskia Biskup, Anna Gréen, Alexander Pepler, Katarina Ellnebo, Johan Wahlström, Hartmut Vogt, Jon Jonasson, Anna Sandestig, Margarita Stefanova
Publikováno v:
Molecular Syndromology. 9:259-265
The beta-actin gene encodes 1 of 6 different actin proteins. De novo heterozygous missense mutations in ACTB have been identified in patients with Baraitser-Winter syndrome (BRWS) and also in patients with developmental disorders other than BRWS, suc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::388c48041737569f980bfafcb0c671b0
https://doi.org/10.1159/000492267
https://doi.org/10.1159/000492267
Autor:
Anna, Sandestig, Anna, Green, Jon, Jonasson, Hartmut, Vogt, Johan, Wahlström, Alexander, Pepler, Katarina, Ellnebo, Saskia, Biskup, Margarita, Stefanova
Publikováno v:
Molecular syndromology. 9(5)
The beta-actin gene encodes 1 of 6 different actin proteins. De novo heterozygous missense mutations in ACTB have been identified in patients with Baraitser-Winter syndrome (BRWS) and also in patients with developmental disorders other than BRWS, suc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::d47eb38a2781351dab445dfd52d13209
https://pubmed.ncbi.nlm.nih.gov/30733661
https://pubmed.ncbi.nlm.nih.gov/30733661
Publikováno v:
Therapeutic hypothermia and temperature management; 4(1), pp 10-20 (2014)
Great expectations have been raised about neuroprotection of therapeutic hypothermia in patients with traumatic brain injury (TBI) by analogy with its effects after heart arrest, neonatal asphyxia, and drowning in cold water. The aim of this study is
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::be9e2281e538fc4e2352d6aad974d43f
https://pubmed.ncbi.nlm.nih.gov/24660099
https://pubmed.ncbi.nlm.nih.gov/24660099