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Results 1-10 of 15 (Search time: 0.002 seconds).
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Issue Date
Title
Author(s)
2000
Long-term effects of pyloromyotomy on pyloric motility and gastric emptying in humans
Sun, W.
;
Doran, S.
;
Jones, K.
;
Davidson, G.
;
Dent, J.
;
Horowitz, M.
2002
Variable expression of mental retardation, autism, seizures, and dystonic hand movements in two families with an identical ARX gene mutation
Turner, G.
;
Partington, M.
;
Kerr, B.
;
Mangelsdorf, M.
;
Gecz, J.
2006
FBN1, TGFBR1, and the Marfan-craniosynostosis/mental retardation disorders revisited
Ades, L.
;
Sullivan, K.
;
Biggin, A.
;
Haan, E.
;
Brett, M.
;
Holman, K.
;
Dixon, J.
;
Robertson, S.
;
Holmes, A.
;
Rogers, J.
;
Bennetts, B.
2002
The molecular basis of cystathionine b-synthase deficiency in Australian patients: Genotype-phenotype correlations and response to treatment
Gaustadnes, M.
;
Wilcken, B.
;
Oliveriusova, J.
;
McGill, J.
;
Fletcher, J.
;
Kraus, J.
;
Wilcken, D.
2000
Quality of life of mothers and families caring for preterm infants requiring home oxygen therapy: A brief report
McLean, A.
;
Townsend, A.
;
Clark, J.
;
Sawyer, M.
;
Baghurst, P.
;
Haslam, R.
;
Whaites, L.
2004
Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardation
Freude, K.
;
Hoffmann, K.
;
Jensen, L.
;
Delatycki, M.
;
des Portes, V.
;
Moser, B.
;
Hamel, B.
;
van Bokhoven, H.
;
Moraine, C.
;
Fryns, J.
;
Chelly, J.
;
Gecz, J.
;
Lenzner, S.
;
Kalscheuer, V.
;
Ropers, H.
2005
Sleep-disordered breathing in Prader-Willi syndrome and its association with neurobehavioral abnormalities
O'Donoghue, F.
;
Camfferman, D.
;
Kennedy, J.
;
Martin, A.
;
Couper, T.
;
Lack, L.
;
Lushington, K.
;
McEvoy, R.
2002
National study of adverse reactions after vaccination with bacille Calmette-Guérin
Turnbull, F.
;
McIntyre, P.
;
Achat, H.
;
Wang, H.
;
Stapledon, R.
;
Gold, M.
;
Burgess, M.
2007
Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factor
Ali, A.
;
Christie, P.
;
Grigorieva, I.
;
Harding, B.
;
Van Esch, H.
;
Ahmed, S.
;
Bitner-Glindzicz, M.
;
Blind, E.
;
Bloch, C.
;
Christin, P.
;
Clayton, P.
;
Gecz, J.
;
Gilbert-Dussardier, B.
;
Guillen-Navarro, E.
;
Hackett, A.
;
Halac, I.
;
Hendy, G.
;
Lalloo, F.
;
Mache, C.
;
Mughal, Z.
;
et al.
2009
Sporadic in utero generalized edema caused by mutations in the lymphangiogenic genes VEGFR3 and FOXC2
Ghalamkarpour, A.
;
Debauche, C.
;
Haan, E.
;
Van Regemorter, N.
;
Snzajer, Y.
;
Thomas, D.
;
Revencu, N.
;
Gillerot, Y.
;
Boon, L.
;
Vikkula, M.
Discover
Author
3
Gecz, J.
2
Davidson, G.
2
Fletcher, J.
2
Haan, E.
2
McGill, J.
1
Achat, H.
1
Ades, L.
1
Ahmed, S.
1
Ali, A.
1
Baghurst, P.
.
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Subject
15
Humans
13
Female
9
Child
8
Adolescent
8
Child, Preschool
4
Infant, Newborn
4
Middle Aged
4
Mutation
3
Abnormalities, Multiple
3
Follow-Up Studies
.
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