Zobrazeno 1 - 10
of 138
pro vyhledávání: '"A. M. O'rawe"'
Autor:
Banda, Mazuwa
Publikováno v:
Health Policy and Planning, 1993 Mar 01. 8(1), 96-97.
Externí odkaz:
https://www.jstor.org/stable/45089044
Akademický článek
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Autor:
Fabian‐Morales, Gerardo E.1 (AUTHOR), Ordoñez‐Labastida, Vianey1,2,3 (AUTHOR), Garcia‐Martínez, Froylan1 (AUTHOR), Montes‐Almanza, Luis1 (AUTHOR), Zenteno, Juan C.1,2,4 (AUTHOR) jczenteno@institutodeoftalmologia.org
Publikováno v:
Molecular Genetics & Genomic Medicine. Oct2024, Vol. 12 Issue 10, p1-10. 10p.
Autor:
R. Mark Gardiner, Michel Philippart, Sandra L. Hofmann, Frederick Andermann, Irene L. Hofman, Patricia B. Munroe, Yanick J. Crow, Carlos Becerra, Eva Andermann, Peter E.M. Taschner, Hannah M. Mitchison, A. M. O'rawe, Sara E. Mole, Ruth E Williams, John B.P. Stephenson, Brian D. Lake, Jean Jacques Martin
Publikováno v:
Human Molecular Genetics. 7:291-297
A subtype of neuronal ceroid lipofuscinosis (NCL) is well recognized which has a clinical course consistent with juvenile NCL (JNCL) but the ultrastructural characteristics of infantile NCL (INCL): granular osmiophilic deposits (GROD). Evidence suppo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d49aa9e67e8606dea68a62e3604794ce
https://doi.org/10.1093/hmg/7.2.291
https://doi.org/10.1093/hmg/7.2.291
Akademický článek
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K zobrazení výsledku je třeba se přihlásit.
Autor:
Eddie M. K. Chung, M Al-Dabbagh, RM Gardiner, H. Blau, M Cheehab, S Polak-Charcon, M Meeks, A. M. O'rawe, SL Spiden, H D Hamam, HM Mitchison, E L Fehaid, H Simpson, H Mussaffi-Georgy, Amanda J. Walne
Primary ciliary dyskinesia is an autosomal recessive condition characterised by chronic sinusitis, bronchiectasis, and subfertility. Situs inversus occurs in 50% of cases (Kartagener syndrome). It has an estimated incidence of 1 in 20 000 live births
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c3336f4e8628a3c256cd51b9dbd24b79
https://europepmc.org/articles/PMC1734555/
https://europepmc.org/articles/PMC1734555/
Autor:
H M, Mitchison, S L, Hofmann, C H, Becerra, P B, Munroe, B D, Lake, Y J, Crow, J B, Stephenson, R E, Williams, I L, Hofman, P E, Taschner, J J, Martin, M, Philippart, E, Andermann, F, Andermann, S E, Mole, R M, Gardiner, A M, O'Rawe
Publikováno v:
Human molecular genetics. 7(2)
A subtype of neuronal ceroid lipofuscinosis (NCL) is well recognized which has a clinical course consistent with juvenile NCL (JNCL) but the ultrastructural characteristics of infantile NCL (INCL): granular osmiophilic deposits (GROD). Evidence suppo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::94f4f4babdf890d2f2c2c00fd22b6fff
https://pubmed.ncbi.nlm.nih.gov/9425237
https://pubmed.ncbi.nlm.nih.gov/9425237
Autor:
Sara E. Mole, K. L. D'arigo, RM Gardiner, A. C. Munk, Patricia B. Munroe, David F. Callen, HM Mitchison, Norman A. Doggett, Robert K. Moyzis, Peter E.M. Taschner, Gabriel Kremmidiotis, A. M. O'rawe, I Lensink, Martijn H. Breuning, John W. Anderson, N de Vos, Terry J. Lerner
Publikováno v:
Genomics. 40(2)
We recently cloned a cDNA for CLN3, the gene for juvenile-onset neuronal ceroid lipofuscinosis or Batten disease. To resolve the genomic organization we used a cosmid clone containing CLN3 to sequence the entire gene in addition to 1.1 kb 5' of the s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d02326c41b1eaf8bdbc980fac243104
https://pubmed.ncbi.nlm.nih.gov/9119403
https://pubmed.ncbi.nlm.nih.gov/9119403
Autor:
RM Gardiner, HM Mitchison, Sara E. Mole, David F. Callen, Bonnie A. Wallace, Na Doggett, Gabriel Kremmidiotis, Patricia B. Munroe, Peter E.M. Taschner, Terry J. Lerner, Janes Rb, A. M. O'rawe
Publikováno v:
Europe PubMed Central
The genomic sequence of the human CLN3 gene, which is defective in juvenile onset neuronal ceroid lipofuscinosis (Batten disease) is being delineated using a variety of methods. A Saccharomyces cerevisiae gene, YHC3 (for Yeast Homologue to human CLN3
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d8791e1d91c1e92ca216d02b189169b4
https://pubmed.ncbi.nlm.nih.gov/9151311
https://pubmed.ncbi.nlm.nih.gov/9151311