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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.
2017
NAD deficiency, congenital malformations, and niacin supplementation
Shi, H.
;
Enriquez, A.
;
Rapadas, M.
;
Martin, E.
;
Wang, R.
;
Moreau, J.
;
Lim, C.
;
Szot, J.
;
Ip, E.
;
Hughes, J.
;
Sugimoto, K.
;
Humphreys, D.
;
McInerney-Leo, A.
;
Leo, P.
;
Maghzal, G.
;
Halliday, J.
;
Smith, J.
;
Colley, A.
;
Mark, P.
;
Collins, F.
;
et al.
2014
Inactivating mutations in NPC1L1 and protection from coronary heart disease
Stitziel, 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.
2017
Self-reverting mutations partially correct the blood phenotype in a Diamond Blackfan Anemia patient
Venugopal, P.
;
Moore, S.
;
Lawrence, D.
;
George, A.
;
Hannan, R.
;
Bray, S.
;
To, L.
;
D Andrea, R.
;
Feng, J.
;
Tirimacco, A.
;
Yeoman, A.
;
Young, C.
;
Fine, M.
;
Schreiber, A.
;
Hahn, C.
;
Barnett, C.
;
Saxon, B.
;
Scott, H.
2013
A novel prion disease associated with diarrhea and autonomic neuropathy
Mead, S.
;
Gandhi, S.
;
Beck, J.
;
Caine, D.
;
Gallujipali, D.
;
Carswell, C.
;
Hyare, H.
;
Joiner, S.
;
Ayling, H.
;
Lashley, T.
;
Linehan, J.M.
;
Al-Doujaily, H.
;
Sharps, B.
;
Revesz, T.
;
Sandberg, M.K.
;
Reilly, M.M.
;
Koltzenburg, M.
;
Forbes, A.
;
Rudge, P.
;
Brandner, S.
;
et al.
2013
Migalastat HCl reduces globotriaosylsphingosine (Lyso-Gb3) in fabry transgenic mice and in the plasma of fabry patients
Young-Gqamana, B.
;
Brignol, N.
;
Chang, H.
;
Khanna, R.
;
Soska, R.
;
Fuller, M.
;
Sitaraman, S.
;
Germain, D.
;
Giugliani, R.
;
Hughes, D.
;
Mehta, A.
;
Nicholls, K.
;
Boudes, P.
;
Lockhart, D.
;
Valenzano, K.
;
Benjamin, E.
;
Schiffmann, R.
2014
The relationship between rash, tumour KRAS mutation status and clinical and quality of life outcomes in patients with advanced colorectal cancer treated with cetuximab in the NCIC CTG/AGITG CO.17
Sommeijer, D.
;
Karapetis, C.
;
Zalcberg, J.
;
Tu, D.
;
Jonker, D.
;
Simes, J.
;
Tebbutt, N.
;
Yip, D.
;
Price, T.
;
O'Callaghan, C.
2015
Novel IL1RAPL1 mutations associated with intellectual disability impair synaptogenesis
Ramos-Brossier, M.
;
Montani, C.
;
Lebrun, N.
;
Gritti, L.
;
Martin, C.
;
Seminatore-Nole, C.
;
Toussaint, A.
;
Moreno, S.
;
Poirier, K.
;
Dorseuil, O.
;
Chelly, J.
;
Hackett, A.
;
Gecz, J.
;
Bieth, E.
;
Faudet, A.
;
Heron, D.
;
Kooy, R.
;
Loeys, B.
;
Humeau, Y.
;
Sala, C.
;
et al.
2016
Reinitiation of mRNA translation in a patient with X-linked infantile spasms with a protein-truncating variant in ARX
Moey, C.
;
Topper, S.
;
Karn, M.
;
Johnson, A.
;
Das, S.
;
Vidaurre, J.
;
Shoubridge, C.
2016
HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the results of an X-chromosome exome sequencing study
Friez, M.
;
Brooks, S.
;
Stevenson, R.
;
Field, M.
;
Basehore, M.
;
Adès, L.
;
Sebold, C.
;
Mcgee, S.
;
Saxon, S.
;
Skinner, C.
;
Craig, M.
;
Murray, L.
;
Simensen, R.
;
Yap, Y.
;
Shaw, M.
;
Gardner, A.
;
Corbett, M.
;
Kumar, R.
;
Bosshard, M.
;
Van Loon, B.
;
et al.
Discover
Author
29
et al.
21
Gecz, J.
8
Gardner, A.
7
Corbett, M.
7
Haan, E.
6
Field, M.
6
Jolly, L.
6
Price, T.
5
Berkovic, S.
5
Dibbens, L.
.
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