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Results 1-10 of 16 (Search time: 0.005 seconds).
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Issue Date
Title
Author(s)
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.
2016
A splicing-regulatory polymorphism in DRD2 disrupts ZRANB2 binding, impairs cognitive functioning and increases risk for schizophrenia in six Han Chinese samples
Cohen, O.
;
Weickert, T.
;
Hess, J.
;
Paish, L.
;
McCoy, S.
;
Rothmond, D.
;
Galletly, C.
;
Liu, D.
;
Weinberg, D.
;
Huang, X.
;
Xu, Q.
;
Shen, Y.
;
Zhang, D.
;
Yue, W.
;
Yan, J.
;
Wang, L.
;
Lu, T.
;
He, L.
;
Shi, Y.
;
Xu, M.
;
et al.
2016
Point mutations in Exon 1B of APC reveal gastric adenocarcinoma and proximal polyposis of the stomach as a familial adenomatous polyposis variant
Li, J.
;
Woods, S.
;
Healey, S.
;
Beesley, J.
;
Chen, X.
;
Lee, J.
;
Sivakumaran, H.
;
Wayte, N.
;
Nones, K.
;
Waterfall, J.
;
Pearson, J.
;
Patch, A.
;
Senz, J.
;
Ferreira, M.
;
Kaurah, P.
;
MacKenzie, R.
;
Heravi-Moussavi, A.
;
Hansford, S.
;
Lannagan, T.
;
Spurdle, A.
;
et al.
2016
X chromosome dose and sex bias in autoimmune diseases: increased prevalence of 47,XXX in systemic lupus erythematosus and Sjögren's syndrome
Liu, K.
;
Kurien, B.
;
Zimmerman, S.
;
Kaufman, K.
;
Taft, D.
;
Kottyan, L.
;
Lazaro, S.
;
Weaver, C.
;
Ice, J.
;
Adler, A.
;
Chodosh, J.
;
Radfar, L.
;
Rasmussen, A.
;
Stone, D.
;
Lewis, D.
;
Li, S.
;
Koelsch, K.
;
Igoe, A.
;
Talsania, M.
;
Kumar, J.
;
et al.
2016
Novel germ line DDX41 mutations define families with a lower age of MDS/AML onset and lymphoid malignancies
Lewinsohn, M.
;
Brown, A.L.
;
Weinel, L.M.
;
Phung, C.
;
Rafidi, G.
;
Lee, M.K.
;
Schreiber, A.W.
;
Feng, J.
;
Babic, M.
;
Chong, C.E.
;
Lee, Y.
;
Yong, A.
;
Suthers, G.K.
;
Poplawski, N.
;
Altree, M.
;
Phillips, K.
;
Jaensch, L.
;
Fine, M.
;
D'Andrea, R.J.
;
Lewis, I.D.
;
et al.
2016
Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID
van Bon, B.W.M.
;
Coe, B.P.
;
Bernier, R.
;
Green, C.
;
Gerdts, J.
;
Witherspoon, K.
;
Kleefstra, T.
;
Willemsen, M.H.
;
Kumar, R.
;
Bosco, P.
;
Fichera, M.
;
Li, D.
;
Amaral, D.
;
Cristofoli, F.
;
Peeters, H.
;
Haan, E.
;
Romano, C.
;
Mefford, H.C.
;
Scheffer, I.
;
Gecz, J.
;
et al.
2016
Multiplex families with epilepsy: success of clinical and molecular genetic characterization
Afawi, Z.
;
Oliver, K.L.
;
Kivity, S.
;
Mazarib, A.
;
Blatt, I.
;
Neufeld, M.Y.
;
Helbig, K.L.
;
Goldberg-Stern, H.
;
Misk, A.J.
;
Straussberg, R.
;
Walid, S.
;
Mahajnah, M.
;
Lerman-Sagie, T.
;
Ben-Zeev, B.
;
Kahana, E.
;
Masalha, R.
;
Kramer, U.
;
Ekstein, D.
;
Shorer, Z.
;
Wallace, R.H.
;
et al.
2016
The incidence, mortality and timing of Pneumocystis jiroveci pneumonia after hematopoietic cell transplantation: a CIBMTR analysis
Williams, K.
;
Ahn, K.
;
Chen, M.
;
Aljurf, M.
;
Agwu, A.
;
Chen, A.
;
Walsh, T.
;
Szabolcs, P.
;
Boeckh, M.
;
Auletta, J.
;
Lindemans, C.
;
Zanis-Neto, J.
;
Malvezzi, M.
;
Lister, J.
;
De Toledo Codina, J.
;
Sackey, K.
;
Chakrabarty, J.
;
Ljungman, P.
;
Wingard, J.
;
Seftel, M.
;
et al.
2016
Genetically predicted longer telomere length is associated with increased risk of B-cell lymphoma subtypes
Machiela, M.
;
Lan, Q.
;
Slager, S.
;
Vermeulen, R.
;
Teras, L.
;
Camp, N.
;
Cerhan, J.
;
Spinelli, J.
;
Wang, S.
;
Nieters, A.
;
Vijai, J.
;
Yeager, M.
;
Wang, Z.
;
Ghesquières, H.
;
McKay, J.
;
Conde, L.
;
de Bakker, P.
;
Cox, D.
;
Burdett, L.
;
Monnereau, A.
;
et al.
2016
Integration of genetic and clinical risk factors improves prognostication in relapsed childhood B-cell precursor acute lymphoblastic leukemia
Irving, J.
;
Enshaei, A.
;
Parker, C.
;
Sutton, R.
;
Kuiper, R.
;
Erhorn, A.
;
Minto, L.
;
Venn, N.
;
Law, T.
;
Yu, J.
;
Schwab, C.
;
Davies, R.
;
Matheson, E.
;
Davies, A.
;
Sonneveld, E.
;
Den Boer, M.
;
Love, S.
;
Harrison, C.
;
Hoogerbrugge, P.
;
Revesz, T.
;
et al.
Discover
Author
2
Afawi, Z.
2
Brown, A.L.
2
Gecz, J.
2
Lewis, I.D.
2
Li, S.
2
Schwab, C.
1
Abdel-Wahab, M.
1
Adler, A.
1
Agwu, A.
1
Ahn, K.
.
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Subject
16
Humans
15
Male
7
Adult
6
Middle Aged
5
Aged
5
Genetic Predisposition to Disease
4
Adolescent
4
Child
4
Child, Preschool
4
Cohort Studies
.
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