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Results 1-10 of 95 (Search time: 0.004 seconds).
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PreviewIssue DateTitleAuthor(s)
2008Preimplantation genetic diagnosis for BRCA1 exon 13 duplication mutation using linked polymorphic markers resulting in a live birthJasper, M.; Liebelt, J.; Hussey, N.
2002A mutation in the gene TNFRSF11B encoding osteoprotegerin causes an idiopathic hyperphosphatasia phenotypeCundy, T.; Hegde, M.; Naot, D.; Chong, B.; King, A.; Wallace, R.; Mulley, J.; Love, D.; Seidel, J.; Fawkner, M.; Banovic, T.; Callon, K.; Grey, A.; Reid, I.; Middleton-Hardie, C.; Cornish, J.
2002Sodium-channel defects in benign familial neonatal-infantile seizuresHeron, S.; Crossland, K.; Andermann, E.; Phillips, H.; Hall, A.; Bleasel, A.; Shevell, M.; Mercho, S.; Seni, M.; Guiot, M.; Mulley, J.; Berkovic, S.; Scheffer, I.
2019GJB2 and GJB6 mutations in hereditary recessive non-syndromic hearing impairment in CameroonTingang Wonkam, E.; Chimusa, E.; Noubiap, J.J.; Adadey, S.M.; F Fokouo, J.V.; Wonkam, A.
1998Identification of a common mutation (R245h) in Sanfilippo A patients from the NetherlandsWeber, B.; Vandekamp, J.; Kleijer, W.; Guo, X.H.; Blanch, L.; van Diggelen, O.; Wevers, R.; Poorthuis, B.; Hopwood, J.
2020Heterozygous rare genetic variants in non-syndromic early-onset obesitySerra-Juhé, C.; Martos-Moreno, G.; Bou de Pieri, F.; Flores, R.; Chowen, J.A.; Pérez-Jurado, L.A.; Argente, J.
2017Epiregulin and EGFR interactions are involved in pain processingMartin, L.J.; Smith, S.B.; Khoutorsky, A.; Magnussen, C.A.; Samoshkin, A.; Sorge, R.E.; Cho, C.; Yosefpour, N.; Sivaselvachandran, S.; Tohyama, S.; Cole, T.; Khuong, T.M.; Mir, E.; Gibson, D.G.; Wieskopf, J.S.; Sotocinal, S.G.; Austin, J.S.; Meloto, C.B.; Gitt, J.H.; Gkogkas, C.; et al.
2014Inactivating mutations in NPC1L1 and protection from coronary heart diseaseStitziel, N.O.; Won, H.H.; Morrison, A.C.; Peloso, G.M.; Do, R.; Lange, L.A.; Fontanillas, P.; Gupta, N.; Duga, S.; Goel, A.; Farrall, M.; Saleheen, D.; Ferrario, P.; König, I.; Asselta, R.; Merlini, P.A.; Marziliano, N.; Notarangelo, M.F.; Schick, U.; Auer, P.; et al.
1999Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tardaGedeon, A.; Colley, A.; Jamieson, R.; Thompson, E.; Rogers, J.; Sillence, D.; Tiller, G.; Mulley, J.; Gecz, J.
2000A de novo mutation in sporadic nocturnal frontal lobe epilepsyPhillips, H.; Marini, C.; Scheffer, I.; Sutherland, G.; Mulley, J.; Berkovic, S.

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