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Issue Date
Title
Author(s)
2012
Loss-of-function germline GATA2 mutations in patients with MDS/AML or MonoMAC syndrome and primary lymphedema reveal a key role for GATA2 in the lymphatic vasculature
Kazenwadel, J.
;
Secker, G.
;
Liu, Y.
;
Rosenfeld, J.
;
Wildin, R.
;
Cuellar-Rodriguez, J.
;
Hsu, A.
;
Dyack, S.
;
Fernandez, C.
;
Chong, C.
;
Babic, M.
;
Bardy, P.
;
Shimamura, A.
;
Zhang, M.
;
Walsh, T.
;
Holland, S.
;
Hickstein, D.
;
Horwitz, M.
;
Hahn, C.
;
Scott, H.
;
et al.
2013
Evidence for a retroviral insertion in TRPM1 as the cause of congenital stationary night blindness and leopard complex spotting in the horse
Bellone, R.
;
Holl, H.
;
Sealuri, V.
;
Devi, S.
;
Maddodi, N.
;
Archer, S.
;
Sandmeyer, L.
;
Ludwig, A.
;
Foerster, D.
;
Pruvost, M.
;
Reissmann, M.
;
Bortfeldt, R.
;
Adelson, D.
;
Lim, S.
;
Nelson, J.
;
Haase, B.
;
Engensteiner, M.
;
Leeb, T.
;
Forsyth, G.
;
Mienaltowski, M.
;
et al.
2015
Progesterone receptor modulates ERα action in breast cancer
Mohammed, H.
;
Russell, I.
;
Stark, R.
;
Rueda, O.
;
Hickey, T.
;
Tarulli, G.
;
Serandour, A.
;
Birrell, S.
;
Bruna, A.
;
Saadi, A.
;
Menon, S.
;
Hadfield, J.
;
Pugh, M.
;
Raj, G.
;
Brown, G.
;
D'Santos, C.
;
Robinson, J.
;
Silva, G.
;
Launchbury, R.
;
Perou, C.
;
et al.
2016
TBC1D24 genotype-phenotype correlation
Balestrini, S.
;
Milh, M.
;
Castiglioni, C.
;
Lüthy, K.
;
Finelli, M.
;
Verstreken, P.
;
Cardon, A.
;
Stražišar, B.
;
Holder, J.
;
Lesca, G.
;
Mancardi, M.
;
Poulat, A.
;
Repetto, G.
;
Banka, S.
;
Bilo, L.
;
Birkeland, L.
;
Bosch, F.
;
Brockmann, K.
;
Cross, J.
;
Doummar, D.
;
et al.
2013
Identification Of KLHL41 mutations implicates BTB-Kelch-Mediated Ubiquitination as an alternate pathway to myofibrillar disruption in nemaline myopathy
Gupta, V.
;
Ravenscroft, G.
;
Shaheen, R.
;
Todd, E.
;
Swanson, L.
;
Shiina, M.
;
Ogata, K.
;
Hsu, C.
;
Clarke, N.
;
Darras, B.
;
Farrar, M.
;
Hashem, A.
;
Manton, N.
;
Muntoni, F.
;
North, K.
;
Sandaradura, S.
;
Nishino, I.
;
Hayashi, Y.
;
Sewry, C.
;
Thompson, E.
;
et al.
2002
Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndrome
Lower, K.
;
Turner, G.
;
Kerr, B.
;
Mathews, K.
;
Shaw, M.
;
Gedeon, A.
;
Schelley, S.
;
Hoyme, H.
;
White, S.
;
Delatycki, M.
;
Lampe, A.
;
Clayton-Smith, J.
;
Stewart, H.
;
van Ravenswaay, C.
;
de Vries, B.
;
Cox, B.
;
Grompe, M.
;
Ross, S.
;
Thomas, P.
;
Mulley, J.
;
et al.
2017
Antenatal suppression of il-1 protects against inflammation-induced fetal injury and improves neonatal and developmental outcomes in mice
Nadeau-Vallée, M.
;
Chin, P.
;
Belarbi, L.
;
Brien, M.
;
Pundir, S.
;
Berryer, M.
;
Beaudry-Richard, A.
;
Madaan, A.
;
Sharkey, D.
;
Lupien-Meilleur, A.
;
Hou, X.
;
Quiniou, C.
;
Beaulac, A.
;
Boufaied, I.
;
Boudreault, A.
;
Carbonaro, A.
;
Doan, N.
;
Joyal, J.
;
Lubell, W.
;
Olson, D.
;
et al.
2018
Plasmacytoid dendritic cells protect from viral bronchiolitis and asthma through semaphorin 4a-mediated T reg expansion
Lynch, J.
;
Werder, R.
;
Loh, Z.
;
Sikder, M.
;
Curren, B.
;
Zhang, V.
;
Rogers, M.
;
Lane, K.
;
Simpson, J.
;
Mazzone, S.
;
Spann, K.
;
Hayball, J.
;
Diener, K.
;
Everard, M.
;
Blyth, C.
;
Forstner, C.
;
Dennis, P.
;
Murtaza, N.
;
Morrison, M.
;
Cuív, P.
;
et al.
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.
2010
Mutations in MAP3K1 cause 46,XY disorders of sex development and implicate a common signal transduction pathway in human testis determination
Pearlman, A.
;
Loke, J.
;
Le Caignec, C.
;
White, S.
;
Chin, L.
;
Friedman, A.
;
Warr, N.
;
Willan, J.
;
Brauer, D.
;
Farmer, C.
;
Brooks, E.
;
Oddoux, C.
;
Riley, B.
;
Shajahan, S.
;
Camerino, G.
;
Homfray, T.
;
Crosby, A.
;
Couper, J.
;
David, A.
;
Greenfield, A.
;
et al.
Discover
Author
3
Adelson, D.
3
Gecz, J.
3
Hughes, J.
3
White, S.
2
Babic, M.
2
Bellone, R.
2
Burdon, K.
2
Cheng, Y.
2
Chong, C.
2
Crawford, A.
.
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Subject
32
Humans
30
Male
25
Mice
12
Mutation
11
Pedigree
10
Child
8
Child, Preschool
7
Adult
7
Brain
7
Disease Models, Animal
.
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Date issued
2
2020 - 2021
30
2010 - 2019
7
2001 - 2009