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PreviewIssue DateTitleAuthor(s)
20041024C>T (R342X) is a recurrent RHF6 mutation also found in the original Börjeson-Forssman-Lehmann syndrome familyLower, K.; Solders, G.; Bondeson, M.; Nelson, J.; Brun, A.; Crawford, J.; Malm, G.; Borjeson, M.; Turner, G.; Partington, M.; Gecz, J.
20101210 Methodological approaches to conceptualizing and modeling the effect of dynamic family structure on child behaviorMcDonald, S.; Moodie, E.; Lynch, J.; Satellite Symposia
201214q12 and severe Rett-like phenotypes: new clinical insights and physical mapping of FOXG1-regulatory elementsAllou, L.; Lambert, L.; Amsallem, D.; Bieth, E.; Edery, P.; Destree, A.; Rivier, F.; Amor, D.; Thompson, E.; Nicholl, J.; Harbord, M.; Nemos, C.; Saunier, A.; Moustaine, A.; Vigouroux, A.; Jonveaux, P.; Philippe, C.
201117-alpha-hydroxyprogesterone caproate for the prevention of adverse neonatal outcome in multiple pregnancies: A randomized controlled trialLim, A.; Schuit, E.; Bloemenkamp, K.; Bernardus, R.; Duvekot, J.; Erwich, J.; van Eyck, J.; Groenwold, R.; Hasaart, T.; Hummel, P.; Kars, M.; Kwee, A.; van Oirschot, C.; van Pampus, M.; Papatsonis, D.; Porath, M.; Spaanderman, M.; Willekes, C.; Wilpshaar, J.; Mol, B.; et al.
20081D09C3, an mAb specific for MHC-IIZola, H.; Beare, A.
2009A 1q44 deletion, paternal UPD of chromosome 2 and a deletion due to a complex translocation detected in children with abnormal phenotypes using new SNP array technologyTalseth-Palmer, B.; Bowden, N.; Meldrum, C.; Nicholl, J.; Thompson, E.; Friend, K.; Liebelt, J.; Bratkovic, D.; Haan, E.; Yu, S.; Scott, R.
2015236 effect of cyclic adenosine monophosphate modulator regulators in association with bmp15 on bovine embryo development in vitroMachado, M.F.; Nogueira, M.F.; Gilchrist, R.B.; Sutton-McDowall, M.L.; Mottershead, D.G.; White, M.A.; Thompson, J.G.; Australia)
201425-hydroxyvitamin D concentrations in children with Crohn's disease supplemented with either 2000 or 400 IU daily for 6 months: a randomized controlled studyWingate, K.; Jacobson, K.; Issenman, R.; Carroll, M.; Barker, C.; Israel, D.; Brill, H.; Weiler, H.; Barr, S.; Li, W.; Lyon, M.; Green, T.
1996A 3-year follow-up of the intellectual and academic functioning of children receiving central nervous system prophylactic chemotherapy for leukemiaBrown, R.; Sawyer, M.; Antoniou, G.; Toogood, I.; Rice, M.; Thompson, N.; Madan-Swain, A.
20114-aminobutyrate aminotrasferase (ABAT): genetic and pharmacological evidence for an involvement in gastro esophageal reflux diseaseJirholt, J.; Asling, B.; Hammond, P.; Davidson, G.; Knutsson, M.; Walentinsson, A.; Jensen, J.; Lehmann, A.; Agreus, L.; Lagerstrom-Fermer, M.
2002The 8th Human Leucocyte Differentiation Antigens Workshop: Potential new CD moleculesZola, H.
2005The 8th international workshop on human leucocyte differentiation antigens, Adelaide, Australia, 2000-2004Zola, H.; Dandie, G.
2004a-L-fucosidases: Exoglycosidases with unusual transglycosylation propertiesBerteau, O.; Bielicki, J.; Kilonda, A.; Machy, D.; Anson, D.; Kenne, L.
2003The a-L-iduronidase mutations R89Q and R89W result in an attenuated mucopolysaccharidosis type I clinical presentationHein, L.; Hopwood, J.; Clements, P.; Brooks, D.
2004a-L-iduronidase premature stop codons and potential read-through in mucopolysaccharidosis type I patientsHein, L.; Bawden, M.; Muller, V.; Sillence, D.; Hopwood, J.; Brooks, D.
2004A2 milk is allergenicSmith, W.; Thompson, D.; Kummerow, M.; Quinn, P.; Gold, M.
2004Aberrant CBFA2T3B gene promoter methylation in breast tumorsBais, A.; Gardner, A.; McKenzie, O.; Callen, D.; Sutherland, G.; Kremmidiotis, G.
2012Ablation of PGC1 beta prevents mTOR dependent endoplasmic reticulum stress responseCamacho, A.; Rodriguez-Cuenca, S.; Blount, M.; Prieur, X.; Barbarroja, N.; Fuller, M.; Hardingham, G.; Vidal-Puig, A.
2002Abnormal expression of the KLF8 (ZNF741) gene in a female patient with an X;autosome translocation t(X;21)(p11.2;q22.3) and non-syndromic mental retardationLossi, A.; Laugier-Anfossi, F.; Depetris, D.; Gecz, J.; Gedeon, A.; Kooy, F.; Schwartz, C.; Mattei, M.; Croquette, M.; Villard, L.
2012Abnormal gangliosides are localized in lipid rafts in Sanfilippo (MPS3a) mouse brainDawson, G.; Fuller, M.; Hemsley, K.; Hopwood, J.