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Results 1-10 of 92 (Search time: 0.004 seconds).
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PreviewIssue DateTitleAuthor(s)
2008X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairmentDibbens, 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.
1995An integrated physical map of human chromosome 16Doggett, N.; Goodwin, L.; Tesmer, J.; Meincke, L.; Bruce, D.; Clark, L.; Altherr, M.; Ford, A.; Chi, H.C.; Marrone, B.; Longmire, J.; Lane, S.; Whitmore, S.; Lowenstein, N.; Sutherland, G.; Mundt, M.; Knill, E.; Bruno, W.; Macken, C.; Torney, D.; et al.
2007Epidemiological comparisons of problems and positive qualities reported by adolescents in 24 countriesRescorla, L.; Achenbach, T.; Ivanova, M.; Dumenci, L.; Almqvist, F.; Bilenberg, N.; Bird, H.; Broberg, A.; Dobrean, A.; Dopfner, M.; Erol, N.; Forns, M.; Hannesdottir, H.; Kanbayashi, Y.; Lambert, M.; Leung, P.; Minaei, A.; Mulatu, M.; Novik, T.; Oh, K.; et al.
1997A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndromeMuenke, M.; Gripp, K.; McDonald-McGinn, D.; Gaudenz, K.; Whitaker, L.; Bartlett, S.; Markowitz, R.; Robin, N.; Nwokoro, N.; Mulvihill, J.; Losken, H.; Mulliken, J.; Guttmacher, A.; Wilroy, R.; Clarke, L.; Hollway, G.; Ades, L.; Haan, E.; Mulley, J.; Cohen, M.; et al.
2007Mutations in ZDHHC9, which encodes a palmitoyltransferase of NRAS and HRAS, cause X-linked mental retardation associated with a marfanoid habitusRaymond, F.; Tarpey, P.; Edkins, S.; Tofts, C.; O'Meara, S.; Teague, J.; Butler, A.; Stevens, C.; Barthorpe, S.; Buck, G.; Cole, J.; Dicks, E.; Gray, K.; Harrison, R.; Hills, K.; Hinton, J.; Jones, D.; Menzies, A.; Perry, J.; Raine, K.; et al.
2020Septum resection in women with a septate uterus: a cohort studyRikken, J.F.; Verhorstert, K.W.; Emanuel, M.H.; Kuchenbecker, W.K.; Jansen, F.W.; Torrenga, B.; Schols, W.A.; Verhoeve, H.R.; Hoek, A.; Clark, T.J.; Stephenson, M.; Mol, B.W.; Van der Veen, F.; Van Wely, M.; Goddijn, M.; Bongers, M.Y.; van der Steeg, J.W.; Janssen, I.A.H.; Kapiteijn, K.; Torrance, H.L.; et al.
2019Preferred learning modalities and practice for critical skills: a global survey of paediatric emergency medicine cliniciansCraig, S.S.; Auerbach, M.; Cheek, J.A.; Babl, F.E.; Oakley, E.; Nguyen, L.; Rao, A.; Dalton, S.; Lyttle, M.D.; Mintegi, S.; Nagler, J.; Mistry, R.D.; Dixon, A.; Rino, P.; Kohn-Loncarica, G.; Dalziel, S.R.; Tzimenatos, L.; Mistry, R.; Brown, K.; Powell, E.; et al.
2018A C6orf10/LOC101929163 locus is associated with age of onset in C9orf72 carriersZhang, M.; Ferrari, R.; Tartaglia, M.C.; Keith, J.; Surace, E.I.; Wolf, U.; Sato, C.; Grinberg, M.; Liang, Y.; Xi, Z.; Dupont, K.; McGoldrick, P.; Weichert, A.; McKeever, P.M.; Schneider, R.; McCorkindale, M.D.; Manzoni, C.; Rademakers, R.; Graff-Radford, N.R.; Dickson, D.W.; et al.
2014Tumor mismatch repair immunohistochemistry and DNA MLH1 methylation testing of patients with endometrial cancer diagnosed at age younger than 60 years optimizes triage for population-level germline mismatch repair gene mutation testingBuchanan, D.; Tan, Y.; Walsh, M.; Clendenning, M.; Metcalf, A.; Ferguson, K.; Arnold, S.; Thompson, B.; Lose, F.; Parsons, M.; Walters, R.; Pearson, S.; Cummings, M.; Oehler, M.; Blomfield, P.; Quinn, M.; Kirk, J.; Stewart, C.; Obermair, A.; Young, J.; et al.
2023Transnasal Humidified Rapid Insufflation Ventilatory Exchange in children requiring emergent intubation (Kids THRIVE): a statistical analysis plan for a randomised controlled trialGeorge, S.; Gibbons, K.; Williams, T.; Humphreys, S.; Gelbart, B.; Le Marsney, R.; Craig, S.; Tingay, D.; Chavan, A.; Schibler, A.; Cronin, J.; Pearson, K.; Rasmussen, K.; Acworth, J.; Hickey, L.; Delzoppo, C.; Perkins, E.; Oberender, F.; Waghorn, J.; McCahill, C.; et al.

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