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Results 1-10 of 29 (Search time: 0.003 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.
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.
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.
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
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.
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.
2013
PIK3CA and PTEN gene and exon mutation-specific clinicopathologic and molecular associations in colorectal cancer
Day, F.
;
Jorissen, R.
;
Lipton, L.
;
Mouradov, D.
;
Sakthianandeswaren, A.
;
Christie, M.
;
Li, S.
;
Tsui, C.
;
Tie, J.
;
Desai, J.
;
Xu, Z.
;
Molloy, P.
;
Whitehall, V.
;
Leggett, B.
;
Jones, I.
;
McLaughlin, S.
;
Ward, R.
;
Hawkins, N.
;
Ruszkiewicz, A.
;
Moore, J.
;
et al.
2012
KCNQ2 encephalopathy: Emerging phenotype of a neonatal epileptic encephalopathy
Weckhuysen, S.
;
Mandelstam, S.
;
Suls, A.
;
Audenaert, D.
;
Deconinck, T.
;
Claes, L.
;
Deprez, L.
;
Smets, K.
;
Hristova, D.
;
Yordanova, I.
;
Jordanova, A.
;
Ceulemans, B.
;
Jansen, A.
;
Hasaerts, D.
;
Roelens, F.
;
Lagae, L.
;
Yendle, S.
;
Stanley, T.
;
Heron, S.
;
Mulley, J.
;
et al.
2015
DAT isn’t all that: cocaine reward and reinforcement require Toll-like receptor 4 signaling
Northcutt, A.
;
Hutchinson, M.
;
Wang, X.
;
Baratta, M.
;
Hiranita, T.
;
Cochran, T.
;
Pomrenze, M.
;
Galer, E.
;
Kopajtic, T.
;
Li, C.
;
Amat, J.
;
Larson, G.
;
Cooper, D.
;
Huang, Y.
;
O'Neill, C.
;
Yin, H.
;
Zahniser, N.
;
Katz, J.
;
Rice, K.
;
Maier, S.
;
et al.
Discover
Author
5
Gecz, J.
4
Corbett, M.
4
Gardner, A.
3
Haan, E.
3
Heron, S.
3
Hughes, J.
3
Kumar, R.
2
Chelly, J.
2
Christie, M.
2
Day, F.
.
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6
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