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Issue Date
Title
Author(s)
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.
2015
Pharmacological management of low milk supply with domperidone: separating fact from fiction
Grzeskowiak, L.E.
;
Amir, L.H.
2015
shRNA off-target effects in vivo: impaired endogenous siRNA expression and spermatogenic defects
Song, H.
;
Bettegowda, A.
;
Oliver, D.
;
Yan, W.
;
Phan, M.
;
De Rooij, D.
;
Corbett, M.
;
Wilkinson, M.
;
White-Cooper, H.
2014
Refining analyses of copy number variation identifies specific genes associated with developmental delay
Coe, B.
;
Witherspoon, K.
;
Rosenfeld, J.
;
van Bon, B.
;
Vulto-van Silfhout, A.
;
Bosco, P.
;
Friend, K.
;
Baker, C.
;
Buono, S.
;
Vissers, L.
;
Schuurs-Hoeijmakers, J.
;
Hoischen, A.
;
Pfundt, R.
;
Krumm, N.
;
Carvill, G.
;
Li, D.
;
Amaral, D.
;
Brown, N.
;
Lockhart, P.
;
Scheffer, I.
;
et al.
2014
Pharmacological management of low milk supply with domperidone: separating fact from fiction
Grzeskowiak, L.E.
;
Amir, L.H.
2013
Enzyme replacement therapy for mucopolysaccharidosis VI: long-term cardiac effects of galsulfase (Naglazyme®) therapy
Braunlin, E.
;
Rosenfeld, H.
;
Kampmann, C.
;
Johnson, J.
;
Beck, M.
;
Giugliani, R.
;
Guffon, N.
;
Ketteridge, D.
;
Miranda, C.
;
Scarpa, M.
;
Schwartz, I.
;
Teles, E.
;
Wraith, J.
;
Barrios, P.
;
Dias da Silva, E.
;
Kurio, G.
;
Richardson, M.
;
Gildengorin, G.
;
Hopwood, J.
;
Imperiale, M.
;
et al.
2015
Mutations in the intellectual disability gene KDM5C reduce protein stability and demethylase activity
Brookes, E.
;
Laurent, B.
;
Õunap, K.
;
Carroll, R.
;
Moeschler, J.
;
Field, M.
;
Schwartz, C.
;
Gecz, J.
;
Shi, Y.
2012
BRIDGE Study warrants critique
Allen, D.
;
Parry, P.
;
Purssey, R.
;
Spielmans, G.
;
Jureidini, J.
;
Rosenlicht, N.
;
Healy, D.
;
Feinberg, I.
2013
A suppressor screen in Mecp2 mutant mice implicates cholesterol metabolism in Rett syndrome
Buchovecky, C.
;
Turley, S.
;
Brown, H.
;
Kyle, S.
;
McDonald, J.
;
Liu, B.
;
Pieper, A.
;
Huang, W.
;
Katz, D.
;
Russell, D.
;
Shendure, J.
;
Justice, M.
2010
Immunogenicity of a monovalent 2009 influenza A(H1N1) vaccine in infants and children: A randomized trial
Nolan, T.
;
McVernon, J.
;
Skeljo, M.
;
Richmond, P.
;
Wadia, U.
;
Lambert, S.
;
Nissen, M.
;
Marshall, H.
;
Booy, R.
;
Heron, L.
;
Hartel, G.
;
Lai, M.
;
Basser, R.
;
Gittleson, C.
;
Greenberg, M.
Discover
Author
22
Gecz, J.
19
et al.
17
Anderson, P.J.
14
Doyle, L.W.
12
Lee, K.J.
12
Makrides, M.
10
Cheong, J.L.Y.
9
Haan, E.
8
Corbett, M.
8
Field, M.
.
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