Zobrazeno 1 - 10
of 203
pro vyhledávání: '"Wilkie, AO"'
Autor:
Twigg, SR, Babbs, C, van den Elzen, ME, Goriely, A, Taylor, S, McGowan, SJ, Giannoulatou, E, Lonie, L, Ragoussis, J, Sadighi Akha, E, Knight, SJ, Zechi-Ceide, RM, Hoogeboom, JA, Pober, BR, Toriello, HV, Wall, SA, Rita Passos-Bueno, M, Brunner, HG, Mathijssen, IM, Wilkie, AO
Publikováno v:
Human Molecular Genetics
Human Molecular Genetics, 22, 1654-62
Human Molecular Genetics, 22, 8, pp. 1654-62
Human Molecular Genetics, 22(8), 1654-1662. Oxford University Press
Human Molecular Genetics, 22, 1654-62
Human Molecular Genetics, 22, 8, pp. 1654-62
Human Molecular Genetics, 22(8), 1654-1662. Oxford University Press
Contains fulltext : 118112.pdf (Publisher’s version ) (Open Access) Craniofrontonasal syndrome (CFNS), an X-linked disorder caused by loss-of-function mutations of EFNB1, exhibits a paradoxical sex reversal in phenotypic severity: females character
Autor:
Twigg, SR, Lloyd, D, Jenkins, D, Elçioglu, NE, Cooper, CD, Al-Sannaa, N, Annagür, A, Gillessen-Kaesbach, G, Hüning, I, Knight, SJ, Goodship, JA, Keavney, BD, Beales, PL, Gileadi, O, McGowan, SJ, Wilkie, AO
Publikováno v:
The American Journal of Human Genetics; Vol 91
Carpenter syndrome is an autosomal-recessive multiple-congenital- malformation disorder characterized by multisuture craniosynostosis and polysyndactyly of the hands and feet; many other clinical features occur, and the most frequent include obesity,
Publikováno v:
American Journal of Medical Genetics. Part a
Pfeiffer syndrome is an autosomal dominant condition classically combining craniosynostosis with digital anomalies of the hands and feet. The majority of cases are caused by heterozygous mutations in the third immunoglobulin-like domain (IgIII) of FG
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::c3a7aac5a1d09dd64f63e6ce0d18a8f7
https://doi.org/10.1002/ajmg.a.35842
https://doi.org/10.1002/ajmg.a.35842
Autor:
Bendon, CL, Fenwick, AL, Hurst, JA, Nürnberg, G, Nürnberg, P, Wall, SA, Wilkie, AO, Johnson, D
Publikováno v:
BMC Medical Genetics
BMC Medical Genetics, Vol 13, Iss 1, p 104 (2012)
BMC Medical Genetics, Vol 13, Iss 1, p 104 (2012)
Background Frank-ter Haar syndrome is a rare disorder associated with skeletal, cardiac, ocular and craniofacial features including hypertelorism and brachycephaly. The most common underlying genetic defect in Frank-ter Haar syndrome appears to be a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::635dde9fd3124c6b4a3074da0b2b8699
https://ora.ox.ac.uk/objects/uuid:645a3784-0052-4241-bff7-67d990c994bd
https://ora.ox.ac.uk/objects/uuid:645a3784-0052-4241-bff7-67d990c994bd
Publikováno v:
Andrology
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::80f5607f6e38948339f74a2dc008955b
https://doi.org/10.1111/andr.12185
https://doi.org/10.1111/andr.12185
Autor:
Morriss-Kay, GM, Wilkie, AO
The mammalian skull vault is constructed principally from five bones: the paired frontals and parietals, and the unpaired interparietal. These bones abut at sutures, where most growth of the skull vault takes place. Sutural growth involves maintenanc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::6462f3349bb200506cbcc1e111ff0be7
https://europepmc.org/articles/PMC1571561/
https://europepmc.org/articles/PMC1571561/
Alpha-thalassemia caused by a large (62 kb) deletion upstream of the human alpha globin gene cluster
Autor:
Hatton, CS, Wilkie, AO, Drysdale, HC, Wood, WG, Vickers, MA, Sharpe, J, Ayyub, H, Pretorius, IM, Buckle, VJ, Higgs, DR
Publikováno v:
Blood; July 1990, Vol. 76 Issue: 1 p221-227, 7p
Publikováno v:
Blood; April 1989, Vol. 73 Issue: 5 p1081-1104, 24p
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