Showing results 3002 to 3020 of 3020
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| Preview | Issue Date | Title | Author(s) |
| 2016 | X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes | Hu, H.; Haas, S.; Chelly, J.; Van Esch, H.; Raynaud, M.; De Brouwer, A.; Weinert, S.; Froyen, G.; Frints, S.; Laumonnier, F.; Zemojtel, T.; Love, M.; Richard, H.; Emde, A.; Bienek, M.; Jensen, C.; Hambrock, M.; Fischer, U.; Langnick, C.; Feldkamp, M.; et al. |
| 1999 | X-inactivation and marker studies in three families with incontinentia pigmenti: implications for counselling and gene localisation | Woffendin, H.; Jakins, T.; Jouet, M.; Stewart, H.; Landy, S.; Haan, E.; Harris, A.; Donnai, D.; Read, A.; Kenwrick, S. |
| 1998 | X-linked adrenoleukodystrophy: the Australasian experience | Kirk, E.; Fletcher, J.; Sharp, P.; Carey, B.; Poulos, A. |
| 2003 | X-linked myotubular myopathy in a family with three adult survivors | Yu, S.; Manson, J.; White, S.; Bourne, A.; Waddy, H.; Davis, M.; Haan, E. |
| 2008 | X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment | Dibbens, L.; Tarpey, P.; Hynes, K.; Bayly, M.; Scheffer, I.; Smith, R.; Bomar, J.; Sutton, E.; Vandeleur, L.; Shoubridge, C.; Edkins, S.; Turner, S.; Stevens, C.; O'Meara, S.; Tofts, C.; Barthorpe, S.; Buck, G.; Cole, J.; Halliday, K.; Jones, D.; et al. |
| 2008 | XLMR genes: update 2007 | Chiurazzi, P.; Schwartz, C.; Gecz, J.; Neri, G. |
| 2005 | XLMR in MRX families 29, 32, 33 and 38 results from the dup24 mutation in the ARX (Aristaless related homeobox) gene | Stepp, M.; Cason, A.; Finnis, M.; Mangelsdorf, M.; Holinski-Feder, E.; Macgregor, D.; MacMillan, A.; Holden, J.; Gecz, J.; Stevenson, R.; Schwartz, C. |
| 2000 | Y-receptor-like genes GPR72 and GPR73: molecular cloning, genomic organisation and assignment to human chromosome 11q21.1 and 2p14 and mouse chromosome 9 and 6 | Parker, R.; Liu, M.; Eyre, H.; Copeland, N.; Gilbert, D.; Crawford, J.; Sutherland, G.; Jenkins, N.; Herzog, H. |
| 2008 | Yoghurts containing probiotics reduce disruption of the small intestinal barrier in methotrexate-treated rats | Southcott, E.; Tooley, K.; Howarth, G.; Davidson, G.; Butler, R. |
| 1988 | Zellweger syndrome amniocytes - morphological appearance and a simple sedimentation method for prenatal-diagnosis | LAZAROW, P.B.; SMALL, G.M.; SANTOS, M.; SHIO, H.; MOSER, A.; MOSER, H.; ESTERMAN, A.; BLACK, V.; DANCIS, J. |
| 2011 | Zinc homeostasis and gut function in children with celiac disease | Tran, C.; Katsikeros, R.; Manton, N.; Krebs, N.; Hambidge, M.; Butler, R.; Davidson, G. |
| 2015 | Zinc supplementation for improving pregnancy and infant outcome | Ota, E.; Mori, R.; Middleton, P.F.; Tobe-Gai, R.; Mahomed, K.; Miyazaki, C.; Bhutta, Z.A. |
| 2006 | ZNF674: A new Kruppel-associated box-containing zinc-finger gene involved in nonsyndromic X-linked mental retardation | Lugtenberg, D.; Yntema, H.; Banning, M.; Oudakker, A.; Firth, H.; Willatt, L.; Raynaud, M.; Kleefstra, T.; Fryns, J.; Ropers, H.; Chelly, J.; Moraine, C.; Gecz, J.; van Reeuwijk, J.; Nabuurs, S.; de Vries, B.; Hamel, B.; de Brouwer, A.; van Bokhoven, H. |
| 2009 | Zyvox (R) annual appraisal of potency and spectrum program: linezolid surveillance program results for 2008 | Jones, R.; Ross, J.; Bell, J.; Utsuki, U.; Kobayashi, I.; Fumiaki, I.; Turnidge, J. |
| 2002 | α-L-Iduronidase and enzyme replacement therapy for mucopolysaccharidosis I | Brooks, D. |
| 2015 | α-l-Iduronidase transduced mesenchymal stem cells improve the behavioral deficits in mucopolysaccharidosis type I mice | Jackson, M.R.; Robertsa, A.L.K.D.; Gronthos, S.; Byers, S.; 11th Annual Research Meeting WORLD Symposium of the Lysosomal Disease Network (WORLD) (9 Feb 2015 - 13 Feb 2015 : Orlando, FL) |
| 2002 | α-Mannosidosis in the guinea pig: cloning of the lysosomal α-mannosidase cDNA and identification of a missense mutation causing α-mannosidosis | Berg, T.; Hopwood, J. |
| 2008 | Δ6 desaturase mRNA abundance in HepG2 cells is suppressed by unsaturated fatty acids | Portolesi, R.; Powell, B.; Gibson, R. |
| 2019 | ω-3 Fatty Acids in Pregnancy: Time for Action | Makrides, M. |
