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Issue Date
Title
Author(s)
2010
Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disability
Whibley, A.
;
Plagnol, V.
;
Tarpey, P.
;
Abidi, F.
;
Fullston, T.
;
Choma, M.
;
Boucher, C.
;
Shepherd, L.
;
Willatt, L.
;
Parkin, G.
;
Smith, R.
;
Futreal, P.
;
Shaw, M.
;
Boyle, J.
;
Licata, A.
;
Skinner, C.
;
Stevenson, R.
;
Turner, G.
;
Field, M.
;
Hackett, A.
;
et al.
2010
Past medical history and pancreatic cancer risk: Results from a multicenter case-control study
Maisonneuve, P.
;
Lowenfels, A.
;
Bueno-de-Mesquita, H.
;
Ghadirian, P.
;
Baghurst, P.
;
Zatonski, W.
;
Miller, A.
;
Duell, E.
;
Boffetta, P.
;
Boyle, P.
2010
Cryogenic burns from intentional use of aerosol spray in children: An emerging phenomenon
Stefanutti, G.
;
Yee, J.
;
Sparnon, A.
2010
Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly
Giannandrea, M.
;
Bianchi, V.
;
Mignogna, M.
;
Sirri, A.
;
Carrabino, S.
;
D'Elia, E.
;
Vecellio, M.
;
Russo, S.
;
Cogliati, F.
;
Larizza, L.
;
Ropers, H.
;
Tzschach, A.
;
Kalscheuer, V.
;
Oehl-Jaschkowitz, B.
;
Skinner, C.
;
Schwartz, C.
;
Gecz, J.
;
Van Esch, H.
;
Raynaud, M.
;
Chelly, J.
;
et al.
2010
A role for the phosphatidylinositol 3-kinase - protein kinase C zeta - Sp1 pathway in the 1,25-dihydroxyvitamin D3 induction of the 25-hydroxyvitamin D3 24-hydroxylase gene in human kidney cells
Dwivedi, P.
;
Gao, X.
;
Tan, J.
;
Evdokiou, A.
;
Ferrante, A.
;
Morris, H.
;
May, B.
;
Hii, C.
2010
Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome
Gecz, J.
2010
Mutations in MAP3K1 cause 46,XY disorders of sex development and implicate a common signal transduction pathway in human testis determination
Pearlman, A.
;
Loke, J.
;
Le Caignec, C.
;
White, S.
;
Chin, L.
;
Friedman, A.
;
Warr, N.
;
Willan, J.
;
Brauer, D.
;
Farmer, C.
;
Brooks, E.
;
Oddoux, C.
;
Riley, B.
;
Shajahan, S.
;
Camerino, G.
;
Homfray, T.
;
Crosby, A.
;
Couper, J.
;
David, A.
;
Greenfield, A.
;
et al.
2010
Determination of urinary oligosaccharides by high-performance liquid chromatography/electrospray ionization-tandem mass spectrometry: Application to Hunter syndrome
Nielsen, T.
;
Rozek, T.
;
Hopwood, J.
;
Fuller, M.
2010
Cretinism revisited
Chen, Z.
;
Hetzel, B.
2010
Socioeconomic risk factors for mental health problems in 4-5-year-old children: Australian population study
Davis, E.
;
Sawyer, M.
;
Lo, S.
;
Priest, N.
;
Wake, M.
Discover
Author
17
et al.
17
Gecz, J.
11
Hopwood, J.
11
Sawyer, M.
9
Scheffer, I.
7
Baghurst, P.
6
Berkovic, S.
6
Gold, M.
6
Mulley, J.
5
Anson, D.
.
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Subject
68
Humans
43
Female
35
Male
21
Child
18
Animals
14
Adult
12
Child, Preschool
12
Infant
12
Pregnancy
11
Adolescent
.
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