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Results 51-60 of 137 (Search time: 0.002 seconds).
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PreviewIssue DateTitleAuthor(s)
2014Repair of partial atrioventricular septal defect: a 37-year experienceBuratto, E.; McCrossan, B.; Galati, J.; Bullock, A.; Kelly, A.; d'Udekem, Y.; Brizard, C.; Konstantinov, I.
2013Identification Of KLHL41 mutations implicates BTB-Kelch-Mediated Ubiquitination as an alternate pathway to myofibrillar disruption in nemaline myopathyGupta, V.; Ravenscroft, G.; Shaheen, R.; Todd, E.; Swanson, L.; Shiina, M.; Ogata, K.; Hsu, C.; Clarke, N.; Darras, B.; Farrar, M.; Hashem, A.; Manton, N.; Muntoni, F.; North, K.; Sandaradura, S.; Nishino, I.; Hayashi, Y.; Sewry, C.; Thompson, E.; et al.
2014"Shaken baby syndrome" and forensic pathology: an uneasy interfaceByard, R.
2013Rare variants in single-minded 1 (SIM1) are associated with severe obesityRamachandrappa, S.; Raimondo, A.; Cali, A.; Keogh, J.; Henning, E.; Saeed, S.; Thompson, A.; Garg, S.; Bochukova, E.; Brage, S.; Trowse, V.; Wheeler, E.; Sullivan, A.; Dattani, M.; Clayton, P.; Datta, V.; Bruning, J.; Wareham, N.; O'Rahilly, S.; Peet, D.; et al.
2010Immunogenicity of a monovalent 2009 influenza A(H1N1) vaccine in infants and children: A randomized trialNolan, 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.
2013Loss-of-function mutations in SIM1 contribute to obesity and Prader-Willi-like featuresBonnefond, A.; Raimondo, A.; Stutzmann, F.; Ghoussaini, M.; Ramachandrappa, S.; Bersten, D.; Durand, E.; Vatin, V.; Balkau, B.; Lantieri, O.; Raverdy, V.; Pattou, F.; Van Hul, W.; Van Gaal, L.; Peet, D.; Weill, J.; Miller, J.; Horber, F.; Goldstone, A.; Driscoll, D.; et al.
2019Managing asthma in pregnancy: effects on future child healthClifton, V.L.
2014Using mathematical transmission modelling to investigate drivers of respiratory syncytial virus seasonality in children in the PhilippinesPaynter, S.; Yakob, L.; Simões, E.; Lucero, M.; Tallo, V.; Nohynek, H.; Ware, R.; Weinstein, P.; Williams, G.; Sly, P.; Riley, S.
2019A combined immunodeficiency with severe infections, inflammation, and allergy caused by ARPC1B deficiencyVolpi, S.; Cicalese, M.P.; Tuijnenburg, P.; Tool, A.T.J.; Cuadrado, E.; Abu-Halaweh, M.; Ahanchian, H.; Alzyoud, R.; Akdemir, Z.C.; Barzaghi, F.; Blank, A.; Boisson, B.; Bottino, C.; Brigida, I.; Caorsi, R.; Casanova, J.L.; Chiesa, S.; Chinn, I.K.; Dückers, G.; Enders, A.; et al.
2013Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndromeAoki, Y.; Niihori, T.; Banjo, T.; Okamoto, N.; Mizuno, S.; Kurosawa, K.; Ogata, T.; Takada, F.; Yano, M.; Ando, T.; Hoshika, T.; Barnett, C.; Ohashi, H.; Kawame, H.; Hasegawa, T.; Okutani, T.; Nagashima, T.; Hasegawa, S.; Funayama, R.; Nagashima, T.; et al.