Promoter mutation is a common variant in GJC2-associated Pelizaeus–Merzbacher-like disease von Meyer, E., Kurian, M.A., Morgan, N.V., McNeill, A., Pasha, S., Tee, L., Younis, R., Norman, A., van der Knaap, M.S., Wassmer, E., Trembath, R.C., Brueton, L., Maher, E.R.

Volltext

Comparison of multiple electrode aggregometry with lumi‐aggregometry for the diagnosis of patients with mild bleeding disorders von Al Ghaithi, R., Drake, S., Watson, S. P., Morgan, N. V., Harrison, P.

Volltext

Genotyping and phenotyping of platelet function disorders von Watson, S. P., Lowe, G. C., Lordkipanidzé, M., Morgan, N. V.

Volltext

Use of next‐generation sequencing and candidate gene analysis to identify underlying defects in patients with inherited platelet function disorders von Leo, V. C., Morgan, N. V., Bem, D., Jones, M. L., Lowe, G. C., Lordkipanidzé, M., Drake, S., Simpson, M. A., Gissen, P., Mumford, A., Watson, S. P., Daly, M. E.

Volltext

O6-1 Loss-of-function mutations in the gene encoding the dopamine transporter, SLC6A3, cause Infantile Parkinsonism Dystonia (IPD) von Kurian, M.A, Zhen, J, Cheng, S.-Y, Li, Y, Mordekar, S.R, Jardine, P, Morgan, N.V, Meyer, E, Tee, L, Pasha, S, Wassmer, E, Assmann, B, Heales, S.J.R, Gissen, P, Reith, M.E.A, Maher, E.R

Volltext

Gene of the issue: RUNX1 mutations and inherited bleeding von Morgan, N.V, Daly, M.E

Volltext bestellen

Sorting Nexin 24 is required for α-granule biogenesis and cargo delivery in megakaryocytes von Lacey, J, Webster, S.J, Heath, P.R, Hill, C.J, Nicholson-Goult, L, Wagner, B.E, Khan, A.O, Morgan, N.V, Makris, M, Daly, M.E

Volltext bestellen

Addressing the challenges of genetic screening for deafness von Martin, T P C, Morgan, N V, McKeown, C, Maher, E

Volltext

A locus for asphyxiating thoracic dystrophy, ATD, maps to chromosome 15q 13 von MORGAN, N. V, BACCHELLI, C, KELLY, D. A, TREMBATH, R. C, SCAMBLER, P. J, MAHER, E. R, GOODMAN, F. R, JOHNSON, C. A, GISSEN, P, MORTON, J, FERRERO, G. B, SILENGO, M, LABRUNE, P, CASTEELS, I, HALL, C, COX, P

Volltext

A comprehensive targeted next-generation sequencing panel for genetic diagnosis of patients with suspected inherited thrombocytopenia von Johnson, B, Doak, R, Allsup, D, Astwood, E, Evans, G, Grimley, C, James, B, Myers, B, Stokley, S, Thachil, J, Wilde, J, Williams, M, Makris, M, Lowe, G.C, Wallis, Y, Daly, M.E, Morgan, N.V, UK GAPP Study Group

Volltext bestellen

Diversity and impact of rare variants in genes encoding the platelet G protein-coupled receptors von Jones, M.L, Norman, J.E, Morgan, N.V, Mundell, S.J, Lordkipanidze, M, Lowe, G.C, Daly, M.E, Simpson, M.A, Drake, S, Watson, S.P, Mumford, A.D, UKGAPPS

Volltext bestellen

Use of next-generation sequencing and candidate gene analysis to identify underlying defects in patients with inherited platelet function disorders von Leo, V.C, Morgan, N.V, Bem, D, Jones, M.L, Lowe, G.C, Lordkipanidzé, M, Drake, S, Simpson, M.A, Gissen, P, Mumford, A, Watson, S.P, Daly, M.E

Volltext bestellen

SLFN14 mutations underlie thrombocytopenia with excessive bleeding and platelet secretion defects von Fletcher, S.J, Johnson, B, Lowe, G.C, Bem, D, Drake, S, Lordkipanidzé, M, Guiu, I.S, Dawood, B, Rivera, J, Simpson, M.A, Daly, M.E, Motwani, J, Collins, P.W, Watson, S.P, Morgan, N.V

Volltext bestellen

Whole exome sequencing identifies genetic variants in inherited thrombocytopenia with secondary qualitative function defects von Johnson, B, Lowe, G.C, Futterer, J, Lordkipanidze', M, MacDonald, D, Simpson, M.A, Sanchez Guiu', I, Drake, S, Bem, D, Leo, V, Fletcher, S.J, Dawood, B, Rivera, J, Allsup, D, Biss, T, Bolton-Maggs, P.H.B, Collins, P, Curry, N, Grimley, C, James, B, Makris, M, Motwani, J, Pavord, S, Talks, K, Thachil, J, Wilde, J, Williams, M, Harrison, P, Gissen, P, Mundell, S, Mumford, A, Daly, M.E, Watson, S.P, Morgan, N.V

Volltext bestellen

An overview of metadata for e-learning, focusing on the Gateway to Educational Materials and activities of the Dublin Core Education Working Group von Morgan, N.V.

Volltext bestellen

The CPS's pre-heating effect on the capability to withstand extreme plasma loads von Herashchenko, S.S., Makhlai, V.A., Garkusha, I.E., Petrov, Yu.V., Aksenov, N.N., Byrka, O.V., Cheboratev, V.V., Kulik, N.V., Staltsov, V.V., Shevchuk, P.B., Morgan, T.W.

Volltext

Antitumor Effects and Biomarkers of Activity of AZD0530, a Src Inhibitor, in Pancreatic Cancer von Rajeshkumar, N V, Tan, Aik Choon, De Oliveira, Elizabeth, Womack, Chris, Wombwell, Helen, Morgan, Shethah, Warren, Madhuri V, Walker, Jill, Green, Tim P, Jimeno, Antonio, Messersmith, Wells A, Hidalgo, Manuel

Volltext

Reassessing the principles of electrical stimulation von Simmons, N.J., Daly, C.C., Cummings, T.L., Morgan, S.K., Johnson, N.V., Lombard, A.

Volltext

Using hepatitis C viral load distribution data from a global database to derive the optimal limit of detection for a point-of-care diagnostic test von Morgan Freiman, J., Wang, J., Easterbrook, P., Kamkamidze, G., Krajden, M., Loarec, A., Marinucci, F., Kinh, N.V., Njouom, R., Solomon, S.S., Tsertsvadze, T., White, L.F., Denkinger, C., Linas, B.

Volltext

THU-419 - Using hepatitis C viral load distribution data from a global database to derive the optimal limit of detection for a point-of-care diagnostic test von Morgan Freiman, J., Wang, J., Easterbrook, P., Kamkamidze, G., Krajden, M., Loarec, A., Marinucci, F., Kinh, N.V., Njouom, R., Solomon, S.S., Tsertsvadze, T., White, L.F., Denkinger, C., Linas, B.

Volltext