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Issue Date
Title
Author(s)
2013
Phenotype and genotype in 101 males with X-linked creatine transporter deficiency
van de Kamp, J.
;
Bratkovic, D.
;
Poplawski, N.
2014
Mutations in mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformations
Scheffer, I.
;
Heron, S.
;
Regan, B.
;
Mandelstam, S.
;
Crompton, D.
;
Hodgson, B.
;
Licchetta, L.
;
Provini, F.
;
Bisulli, F.
;
Vadlamudi, L.
;
Gecz, J.
;
Connelly, A.
;
Tinuper, P.
;
Ricos, M.
;
Berkovic, S.
;
Dibbens, L.
2014
Perinatal outcomes following maternal asthma and cigarette smoking during pregnancy
Hodyl, N.
;
Stark, M.
;
Scheil, W.
;
Grzeskowiak, L.
;
Clifton, V.
2018
A Type 1 Diabetes Genetic Risk Score Predicts Progression of Islet Autoimmunity and Development of Type 1 Diabetes in Individuals at Risk
Redondo, M.J.
;
Geyer, S.
;
Steck, A.K.
;
Sharp, S.
;
Wentworth, J.M.
;
Weedon, M.N.
;
Antinozzi, P.
;
Sosenko, J.
;
Atkinson, M.
;
Pugliese, A.
;
Oram, R.A.
;
Type 1 Diabetes TrialNet Study Group,
2010
Enzyme replacement therapy for mucopolysaccharidosis VI: evaluation of long-term pulmonary function in patients treated with recombinant human N-acetylgalactosamine 4-sulfatase
Harmatz, P.
;
Yu, Z.
;
Giugliani, R.
;
Schwartz, I.
;
Guffon, N.
;
Teles, E.
;
Miranda, C.
;
Wraith, J.
;
Beck, M.
;
Arash, L.
;
Scarpa, M.
;
Ketteridge, D.
;
Hopwood, J.
;
Plecko, B.
;
Steiner, R.
;
Whitley, C.
;
Kaplan, P.
;
Swiedler, S.
;
Hardy, K.
;
Berger, K.
;
et al.
2012
The impact of intensified exercise training on insulin resistance and fitness in overweight and obese women with and without polycystic ovary syndrome
Harrison, C.L.
;
Stepto, N.K.
;
Hutchison, S.K.
;
Teede, H.J.
2010
Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome
Gecz, J.
2011
A novel method for the nonradiological assessment of ineffective swallowing
Omari, T.
;
Dejaeger, E.
;
Van Beckevoort, D.
;
Goeleven, A.
;
de Cock, P.
;
Hoffman, I.
;
Smet, M.
;
Davidson, G.
;
Tack, J.
;
Rommel, N.
2010
PHF6 mutations in T-cell acute lymphoblastic leukemia
Van Vlierberghe, P.
;
Palomero, T.
;
Khiabanian, H.
;
Van der Meulen, J.
;
Castillo, M.
;
Van Roy, N.
;
De Moerloose, B.
;
Philippe, J.
;
Gonzalez-Garcia, M.
;
Toribio, M.
;
Taghon, T.
;
Zuurbier, L.
;
Cauwelier, B.
;
Harrison, C.
;
Schwab, C.
;
Pisecker, M.
;
Strehl, S.
;
Langerak, A.
;
Gecz, J.
;
Sonneveld, E.
;
et al.
2018
Asthma treatment impacts time to pregnancy: evidence from the international SCOPE study
Grzeskowiak, L.E.
;
Smithers, L.G.
;
Grieger, J.A.
;
Bianco-Miotto, T.
;
Leemaqz, S.Y.
;
Clifton, V.L.
;
Poston, L.
;
McCowan, L.M.
;
Kenny, L.C.
;
Myers, J.
;
Walker, J.J.
;
Norman, R.J.
;
Dekker, G.A.
;
Roberts, C.T.
Discover
Author
17
et al.
8
Gecz, J.
6
Marshall, H.
5
Bloemenkamp, K.
5
Grzeskowiak, L.
5
Makrides, M.
5
Mol, B.
5
Porath, M.
5
Scheffer, I.
5
Suthers, G.
.
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Subject
72
Humans
60
Female
44
Male
29
Young Adult
24
Adolescent
22
Child
22
Middle Aged
22
Pregnancy
18
Infant, Newborn
13
Mutation
.
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Date issued
2
2019
7
2018
1
2017
5
2016
5
2015
10
2014
7
2013
12
2012
9
2011
14
2010
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