Zobrazeno 1 - 10
of 195
pro vyhledávání: '"Aftimos, Salim"'
Autor:
Campeau, Philippe M, Kasperaviciute, Dalia, Lu, James T, Burrage, Lindsay C, Kim, Choel, Hori, Mutsuki, Powell, Berkley R, Stewart, Fiona, Félix, Têmis Maria, van den Ende, Jenneke, Wisniewska, Marzena, Kayserili, Hülya, Rump, Patrick, Nampoothiri, Sheela, Aftimos, Salim, Mey, Antje, Nair, Lal D V, Begleiter, Michael L, De Bie, Isabelle, Meenakshi, Girish, Murray, Mitzi L, Repetto, Gabriela M, Golabi, Mahin, Blair, Edward, Male, Alison, Giuliano, Fabienne, Kariminejad, Ariana, Newman, William G, Bhaskar, Sanjeev S, Dickerson, Jonathan E, Kerr, Bronwyn, Banka, Siddharth, Giltay, Jacques C, Wieczorek, Dagmar, Tostevin, Anna, Wiszniewska, Joanna, Cheung, Sau Wai, Hennekam, Raoul C, Gibbs, Richard A, Lee, Brendan H, Sisodiya, Sanjay M
Publikováno v:
In Lancet Neurology January 2014 13(1):44-58
Autor:
Sillence David, Patricelli Maria G, Gardner RJ McKinlay, McGillivray George, Kerr Bronwyn, Kannu Peter, Hunter Warwick, Haan Eric, Alcausin Melanie, Aftimos Salim, Andreucci Elena, Thompson Elizabeth, Zacharin Margaret, Zankl Andreas, Lamandé Shireen R, Savarirayan Ravi
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 6, Iss 1, p 37 (2011)
Abstract Background The TRPV4 gene encodes a calcium-permeable ion-channel that is widely expressed, responds to many different stimuli and participates in an extraordinarily wide range of physiologic processes. Autosomal dominant brachyolmia, spondy
Externí odkaz:
https://doaj.org/article/343d3cdf81154eb0af533b4567d4e3d5
Autor:
Wu, Eileen, Al-Murrani, Amel, Doherty, Elaine, Aftimos, Salim, George, Alice, Love, Donald R.
Publikováno v:
In Forensic Science International: Genetics Supplement Series 2009 2(1):226-227
Autor:
Andreucci, Elena1 (AUTHOR), Aftimos, Salim (AUTHOR), Alcausin, Melanie (AUTHOR), Haan, Eric (AUTHOR), Hunter, Warwick (AUTHOR), Kannu, Peter (AUTHOR), Kerr, Bronwyn (AUTHOR), McGillivray, George (AUTHOR), McKinlay Gardner, R J (AUTHOR), Patricelli, Maria G (AUTHOR), Sillence, David (AUTHOR), Thompson, Elizabeth (AUTHOR), Zacharin, Margaret (AUTHOR), Zankl, Andreas (AUTHOR), Lamandé, Shireen R (AUTHOR), Savarirayan, Ravi (AUTHOR)
Publikováno v:
Orphanet Journal of Rare Diseases. 2011, Vol. 6 Issue 1, p37-44. 8p.
Publikováno v:
Pediatric Anesthesia. Sep2004, Vol. 14 Issue 9, p781-786. 6p.
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Boudry-Labis, Elise, Demeer, Bénédicte, Le Caignec, Cédric, Isidor, Bertrand, Mathieu-Dramard, Michèle, Plessis, Ghislaine, George, Alice M., Taylor, Juliet, Aftimos, Salim, Wiemer-Kruel, Adelheid, Kohlhase, Jürgen, Annerén, Göran, Firth, Helen, Simonic, Ingrid, Vermeesch, Joris, Thuresson, Ann-Charlotte, Copin, Henri, Love, Donald R., Andrieux, Joris
Publikováno v:
In European Journal of Medical Genetics March 2013 56(3):163-170
Autor:
Singh, Shalinder, Ashton, Fern, Marquis-Nicholson, Renate, Love, Jennifer M., Lan, Chuan-Ching, Aftimos, Salim, George, Alice M., Love, Donald R.
Publikováno v:
Case Reports in Pediatrics.
Insertional translocations in which a duplicated region of one chromosome is inserted into another chromosome are very rare. We report a 16.5-year-old girl with a terminal duplication at 9q34.3 of paternal origin inserted into 19q13.4. Chromosomal an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=hindawi_publ::7bc8a54546e9de13a3c2e00680e839ee
Publikováno v:
Case Reports in Genetics.
The contactin-associated protein-like 2 (CNTNAP2) gene is highly expressed in the frontal lobe circuits in the developing human brain. Mutations in this gene have been associated with several neurodevelopmental disorders such as autism and specific l
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=hindawi_publ::eca01058cbaffbb4cd83dbda7c147397
Pure Duplication of the Distal Long Arm of Chromosome 15 with Ebstein Anomaly and Clavicular Anomaly
Autor:
O'Connor, Rachel, Al-Murrani, Amel, Aftimos, Salim, Asquith, Philip, Mazzaschi, Roberto, Eyrolle-Guignot, Dominique, George, Alice M., Love, Donald R.
Publikováno v:
Case Reports in Genetics.
This report is of a patient with pure trisomy of 15q24-qter who presents with the rare Ebstein anomaly and a previously unreported skeletal anomaly. Chromosome microarray analysis allowed high-resolution identification of the extent of the trisomy an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=hindawi_publ::e74fa09c872cba69970d12bcd3d0bed8