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Tytuł :
De novo truncating mutations in WASF1 cause intellectual disability with seizures
Autorzy :
Ito, Y
Carss, KJ
Duarte, ST
Hartley, T
Keren, B
Kurian, MA
Marey, I
Charles, P
Mendonça, C
Nava, C
Pfundt, R
Sanchis-Juan, A
Van Bokhoven, H
Van Essen, A
Van Ravenswaaij-Arts, C
Boycott, KM
Kernohan, KD
Dyack, S
Raymond, FL
Aitman, T
Bennett, D
Caulfield, M
Chinnery, P
Gale, D
Koziell, A
Kuijpers, TW
Laffan, MA
Maher, E
Markus, HS
Morrell, NW
Ouwehand, WH
Perry, DJ
Roberts, I
Smith, KGC
Thrasher, A
Watkins, H
Williamson, C
Woods, G
Ashford, S
Bradley, JR
Fletcher, D
Hammerton, T
James, R
Kingston, N
Penkett, CJ
Stirrups, K
Veltman, M
Young, T
Brown, M
Clements-Brod, N
Davis, J
Dewhurst, E
Dolling, H
Erwood, M
Frary, A
Linger, R
Martin, JM
Papadia, S
Rehnstrom, K
Stark, H
Allsup, D
Austin, S
Bakchoul, T
Bariana, TK
Bolton-Maggs, P
Chalmers, E
Collins, J
Collins, P
Erber, WN
Everington, T
Favier, R
Freson, K
Furie, B
Gattens, M
Gebhart, J
Gomez, K
Greene, D
Greinacher, A
Gresele, P
Hart, D
Heemskerk, JWM
Henskens, Y
Kazmi, R
Keeling, D
Kelly, AM
Lambert, MP
Lentaigne, C
Liesner, R
Makris, M
Mangles, S
Mathias, M
Millar, CM
Mumford, A
Nurden, P
Payne, J
Pasi, J
Peerlinck, K
Revel-Vilk, S
Richards, M
Rondina, M
Roughley, C
Schulman, S
Schulze, H
Scully, M
Sivapalaratnam, S
Stubbs, M
Tait, RC
Talks, K
Thachil, J
Toh, C-H
Turro, E
Van Geet, C
De Vries, M
Warner, TQ
Watson, H
Westbury, S
Furnell, A
Mapeta, R
Rayner-Matthews, P
Simeoni, I
Staines, S
Stephens, J
Watt, C
Whitehorn, D
Attwood, A
Daugherty, L
Deevi, SVV
Halmagyi, C
Hu, F
Matser, V
Meacham, S
Megy, K
Shamardina, O
Titterton, C
Tuna, S
Yu, P
Von Ziegenweldt, J
Astle, W
Bleda, M
Gräf, S
Haimel, M
Lango-Allen, H
Richardson, S
Calleja, P
Rankin, S
Turek, W
Anderson, J
Bryson, C
Carmichael, J
McJannet, C
Stock, S
Allen, L
Ambegaonkar, G
Armstrong, R
Arno, G
Bitner-Glindzicz, M
Brady, A
Canham, N
Chitre, M
Clement, E
Clowes, V
Deegan, P
Deshpande, C
Doffinger, R
Firth, H
Flinter, F
French, C
Gardham, A
Ghali, N
Gissen, P
Grozeva, D
Henderson, R
Hensiek, A
Holden, S
Holder, M
Holder, S
Hurst, J
Josifova, D
Krishnakumar, D
Lees, M
Maclaren, R
Maw, A
Mehta, S
Michaelides, M
Moore, A
Murphy, E
Park, S-M
Parker, A
Patch, C
Paterson, J
Rankin, J
Reid, E
Rosser, E
Sandford, R
Santra, S
Scott, R
Sohal, A
Stein, P
Thomas, E
Thompson, D
Tischkowitz, M
Vogt, J
Wakeling, E
Wassmer, E
Webster, A
Ali, S
Boggard, HJ
Church, C
Coghlan, G
Cookson, V
Corris, PA
Creaser-Myers, A
Dacosta, R
Dormand, N
Eyries, M
Gall, H
Ghataorhe, PK
Ghio, S
Ghofrani, A
Gibbs, JSR
Girerd, B
Greenhalgh, A
Hadinnapola, C
Houweling, AC
Humbert, M
In’T Veld, AH
Kennedy, F
Kiely, DG
Kovacs, G
Lawrie, A
Ross, RVM
Machado, R
Masati, L
Meehan, S
Moledina, S
Montani, D
Othman, S
Peacock, AJ
Pepke-Zaba, J
Pollock, V
Polwarth, G
Ranganathan, L
Rhodes, CJ
Rue-Albrecht, K
Schotte, G
Shipley, D
Soubrier, F
Southgate, L
Scelsi, L
Suntharalingam, J
Tan, Y
Toshner, M
Treacy, CM
Trembath, R
Noordegraaf, AV
Walker, S
Wanjiku, I
Wharton, J
Wilkins, M
Wort, SJ
Yates, K
Alachkar, H
Antrobus, R
Arumugakani, G
Bacchelli, C
Baxendale, H
Bethune, C
Bibi, S
Booth, C
Browning, M
Burns, S
Chandra, A
Cooper, N
Davies, S
Devlin, L
Drewe, E
Edgar, D
Egner, W
Ghurye, R
Gilmour, K
Goddard, S
Gordins, P
Grigoriadou, S
Hackett, S
Hague, R
Harper, L
Hayman, G
Herwadkar, A
Huissoon, A
Jolles, S
Kelleher, P
Kumararatne, D
Lear, S
Longhurst, H
Lorenzo, L
Maimaris, J
Manson, A
McDermott, E
Murng, S
Nejentsev, S
Noorani, S
Oksenhendler, E
Ponsford, M
Qasim, W
Quinti, I
Richter, A
Samarghitean, C
Sargur, R
Savic, S
Seneviratne, S
Sewell, C
Staples, E
Stauss, H
Thaventhiran, J
Thomas, M
Welch, S
Willcocks, L
Yeatman, N
Yong, P
Ancliff, P
Babbs, C
Layton, M
Louka, E
McGowan, S
Mead, A
Roy, N
Chambers, J
Dixon, P
Estiu, C
Hague, B
Marschall, H-U
Simpson, M
Chong, S
Emmerson, I
Ginsberg, L
Gosal, D
Hadden, R
Horvath, R
Mahdi-Rogers, M
Manzur, A
Marshall, A
Matthews, E
McCarthy, M
Reilly, M
Renton, T
Rice, A
Themistocleous, A
Vale, T
Van Zuydam, N
Ormondroyd, L
Hudson, G
Wei, W
Yu Wai Man, P
Whitworth, J
Afzal, M
Colby, E
Saleem, M
Alavijeh, OS
Cook, HT
Johnson, S
Levine, AP
Wong, EKS
Tan, R
Mackenzie, A
Majewski, J
Brudno, M
Bulman, D
Dyment, D
Pokaż więcej
Źródło :
American Journal of Human Genetics. 103
Tytuł :
Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration
Autorzy :
Arno, G.
Carss, K. J.
Hull, S.
Zihni, C.
Robson, A. G.
Fiorentino, A.
Hardcastle, A. J.
Holder, G. E.
Cheetham, M. E.
Plagnol, V.
Moore, A. T.
Raymond, F. L.
Matter, K.
Balda, M. S.
Webster, A. R.
Black, G.
Hall, G.
Ingram, S.
Gillespie, R.
Manson, F.
Sergouniotis, P.
Inglehearn, C.
Toomes, C.
Ali, M.
McKibbin, M.
Poulter, J.
Khan, K.
Lord, E.
Nemeth, A.
Downes, S.
Halford, S.
Yu, J.
Lise, S.
Ponitkos, N.
Michaelides, M.
van Heyningen, V.
Aitman, T.
Alachkar, H.
Ali, S.
Allen, L.
Allsup, D.
Ambegaonkar, G.
Anderson, J.
Antrobus, R.
Armstrong, R.
Arumugakani, G.
Ashford, S.
Astle, W.
Attwood, A.
Austin, S.
Bacchelli, C.
Bakchoul, T.
Bariana, T. K.
Baxendale, H.
Bennett, D.
Bethune, C.
Bibi, S.
Bitner-Glindzicz, M.
Bleda, M.
Boggard, H.
Bolton-Maggs, P.
Booth, C.
Bradley, J. R.
Brady, A.
Brown, M.
Browning, M.
Bryson, C.
Burns, S.
Calleja, P.
Canham, N.
Carmichael, J.
Carss, K.
Caulfield, M.
Chalmers, E.
Chandra, A.
Chinnery, P.
Chitre, M.
Church, C.
Clement, E.
Clements-Brod, N.
Clowes, V.
Coghlan, G.
Collins, P.
Cooper, N.
Creaser-Myers, A.
DaCosta, R.
Daugherty, L.
Davies, S.
Davis, J.
De Vries, M.
Deegan, P.
Deevi, S. V. V.
Deshpande, C.
Devlin, L.
Dewhurst, E.
Doffinger, R.
Dormand, N.
Drewe, E.
Edgar, D.
Egner, W.
Erber, W. N.
Erwood, M.
Everington, T.
Favier, R.
Firth, H.
Fletcher, D.
Flinter, F.
Fox, J. C.
Frary, A.
Freson, K.
Furie, B.
Furnell, A.
Gale, D.
Gardham, A.
Gattens, M.
Ghali, N.
Ghataorhe, P. K.
Ghurye, R.
Gibbs, S.
Gilmour, K.
Gissen, P.
Goddard, S.
Gomez, K.
Gordins, P.
Gräf, S.
Greene, D.
Greenhalgh, A.
Greinacher, A.
Grigoriadou, S.
Grozeva, D.
Hackett, S.
Hadinnapola, C.
Hague, R.
Haimel, M.
Halmagyi, C.
Hammerton, T.
Hart, D.
Hayman, G.
Heemskerk, J. W. M.
Henderson, R.
Hensiek, A.
Henskens, Y.
Herwadkar, A.
Holden, S.
Holder, M.
Holder, S.
Hu, F.
Huissoon, A.
Humbert, M.
Hurst, J.
James, R.
Jolles, S.
Josifova, D.
Kazmi, R.
Keeling, D.
Kelleher, P.
Kelly, A. M.
Kennedy, F.
Kiely, D.
Kingston, N.
Koziell, A.
Krishnakumar, D.
Kuijpers, T. W.
Kumararatne, D.
Kurian, M.
Laffan, M. A.
Lambert, M. P.
Allen, H. L.
Lawrie, A.
Lear, S.
Lees, M.
Lentaigne, C.
Liesner, R.
Linger, R.
Longhurst, H.
Lorenzo, L.
Machado, R.
Mackenzie, R.
MacLaren, R.
Maher, E.
Maimaris, J.
Mangles, S.
Manson, A.
Mapeta, R.
Markus, H. S.
Martin, J.
Masati, L.
Mathias, M.
Matser, V.
Maw, A.
McDermott, E.
McJannet, C.
Meacham, S.
Meehan, S.
Megy, K.
Mehta, S.
Millar, C. M.
Moledina, S.
Moore, A.
Morrell, N.
Mumford, A.
Murng, S.
Murphy, E.
Nejentsev, S.
Noorani, S.
Nurden, P.
Oksenhendler, E.
Ouwehand, W. H.
Papadia, S.
Park, S-M
Parker, A.
Pasi, J.
Patch, C.
Paterson, J.
Payne, J.
Peacock, A.
Peerlinck, K.
Penkett, C. J.
Pepke-Zaba, J.
Perry, D. J.
Pollock, V.
Polwarth, G.
Ponsford, M.
Qasim, W.
Quinti, I.
Rankin, S.
Rankin, J.
Rehnstrom, K.
Reid, E.
Rhodes, C. J.
Richards, M.
Richardson, S.
Richter, A.
Roberts, I.
Rondina, M.
Rosser, E.
Roughley, C.
Rue-Albrecht, K.
Samarghitean, C.
Sanchis-Juan, A.
Sandford, R.
Santra, S.
Sargur, R.
Savic, S.
Schulman, S.
Schulze, H.
Scott, R.
Scully, M.
Seneviratne, S.
Sewell, C.
Shamardina, O.
Shipley, D.
Simeoni, I.
Sivapalaratnam, S.
Smith, K.
Sohal, A.
Southgate, L.
Staines, S.
Staples, E.
Stauss, H.
Stein, P.
Stephens, J.
Stirrups, K.
Stock, S.
Suntharalingam, J.
Tait, R. C.
Talks, K.
Tan, Y.
Thachil, J.
Thaventhiran, J.
Thomas, E.
Thomas, M.
Thompson, D.
Thrasher, A.
Tischkowitz, M.
Titterton, C.
Toh, C-H
Toshner, M.
Treacy, C.
Trembath, R.
Tuna, S.
Turek, W.
Turro, E.
Van Geet, C.
Veltman, M.
Vogt, J.
von Ziegenweldt, J.
Noordegraaf, A. V.
Wakeling, E.
Wanjiku, I.
Warner, T. Q.
Wassmer, E.
Watkins, H.
Webster, A.
Welch, S.
Westbury, S.
Wharton, J.
Whitehorn, D.
Wilkins, M.
Willcocks, L.
Williamson, C.
Woods, G.
Wort, J.
Yeatman, N.
Yong, P.
Young, T.
Yu, P.
Pokaż więcej
Temat :
Retinitis pigmentosa
inherited retinal dystrophy
retinal degeneration
ARHGEF18
p114RhoGEF
apicobasal polarity
Źródło :
The American Journal of Human Genetics, 100 (2) pp. 334-342. (2017)
Opis pliku :
text
Tytuł :
A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss
Autorzy :
Turro, Ernest
Astle, William
Papadia, Sofia
Tuna, Salih
Simeoni, Ilenia
Stirrups, Kathleen
Rendon, Cesar
Bradley, John
Raymond, Frances
Richardson, Sylvia
Ouwehand, Willem
Stritt, S
Nurden, P
Greene, Daniel
Jansen, SB
Westbury, SK
Petersen, R
Marlin, S
Bariana, TK
Kostadima, M
Lentaigne, C
Maiwald, S
Kelly, AM
Stephens, Jonathan
Penkett, CJ
Ashford, S
Austin, S
Bakchoul, T
Collins, P
Favier, R
Lambert, MP
Mathias, M
Millar, CM
Mapeta, R
Perry, David
Schulman, S
Thys, C
BRIDGE-BPD Consortium
Gomez, K
Erber, WN
Van Geet, C
Laffan, MA
Nurden, AT
Nieswandt, B
Freson, K
Mumford, AD
Pokaż więcej
Temat :
Thrombocytopenia
Young Adult
Cells, Cultured
Syndrome
A549 Cells
Polymorphism, Single Nucleotide
Adaptor Proteins, Signal Transducing
HEK293 Cells
Female
Immunology
Case-Control Studies
Aged
Middle Aged
Pedigree
Mutation
Cardiovascular Medicine And Haematology
Adolescent
Genetic Association Studies
Journal Article
Genetic Predisposition to Disease
Hearing Loss
Clinical Sciences
Adult
Paediatrics And Reproductive Medicine
Humans
Male
Child
BRIDGE-BPD Consortium
Źródło :
Stritt, S, Nurden, P, Turro, E, Greene, D, Jansen, S B, Westbury, S K, Petersen, R, Astle, W J, Marlin, S, Bariana, T K, Kostadima, M, Lentaigne, C, Maiwald, S, Papadia, S, Kelly, A M, Stephens, J C, Penkett, C J, Ashford, S, Tuna, S, Austin, S, Bakchoul, T, Collins, P, Favier, R, Lambert, M P, Mathias, M, Millar, C M, Mapeta, R, Perry, D J, Schulman, S, Simeoni, I, Thys, C, Consortium, B-B, Gomez, K, Erber, W N, Stirrups, K, Rendon, A, Bradley, J R, van Geet, C, Raymond, F L, Laffan, M A, Nurden, A T, Nieswandt, B, Richardson, S, Freson, K, Ouwehand, W H & Mumford, A D 2016, ' A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss ', Blood, vol. 127, no. 23, pp. 2903-2914 . https://doi.org/10.1182/blood-2015-10-675629
Opis pliku :
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