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Circulation, ISSN 0009-7322, 11/2016, Volume 134, Issue Suppl_1 Suppl 1, pp. A18770 - A18770
IntroductionNoonan syndrome (NS) is an autosomal dominant disorder with a characteristic clinical phenotype of facial dysmorphisms, short stature, and... 
Journal Article
Mayo Clinic Proceedings, ISSN 0025-6196, 11/2016, Volume 91, Issue 11, pp. 1606 - 1616
We illustrate the work necessary to reverse course after identification of a KCNQ1 variant interpreted erroneously as causing long QT syndrome (LQTS) and to... 
EXOME | MEDICINE, GENERAL & INTERNAL | YOUNG | SKELETAL MYOPATHY | UNEXPLAINED DEATH | SUDDEN CARDIAC DEATH | MOLECULAR AUTOPSY | LONG QT SYNDROME | GENETIC-VARIANTS | MUTATIONS | POTASSIUM CHANNEL | Long QT syndrome | Causes of | Analysis | Sudden death | Genetic screening | Risk factors
Journal Article
Circulation, ISSN 0009-7322, 06/2018, Volume 137, Issue 25, pp. 2705 - 2715
BACKGROUND:Potentially lethal cardiac channelopathies/cardiomyopathies may underlie a substantial portion of sudden unexplained death in the young (SUDY). The... 
sudden death | genetics | cardiomyopathies | channelopathies | SUDDEN UNEXPLAINED DEATH | CARDIAC & CARDIOVASCULAR SYSTEMS | YOUNG | VENTRICULAR-FIBRILLATION | PERIPHERAL VASCULAR DISEASE | CARDIAC DEATH | DILATED CARDIOMYOPATHY | MUTATIONS | Usage | Young adults | Cardiomyopathy | Autopsy | Cardiac arrest | Genetic aspects | Research | Heart diseases | Health aspects | Risk factors
Journal Article
Mayo Clinic Proceedings, ISSN 0025-6196, 2016, Volume 91, Issue 11, pp. 1606 - 1616
Abstract We illustrate the work necessary to reverse course after identification of a KCNQ1 variant interpreted erroneously as causing long QT syndrome (LQTS)... 
Internal Medicine
Journal Article
JCI INSIGHT, ISSN 2379-3708, 03/2017, Volume 2, Issue 5, p. e91225
Noonan syndrome (NS; MIM 163950) is an autosomal dominant disorder and a member of a family of developmental disorders termed "RASopathies," which are caused... 
MEDICINE, RESEARCH & EXPERIMENTAL | GENE PRIORITIZATION | LOOSE ANAGEN HAIR | PROTEIN | COSTELLO-SYNDROME | M-RAS | GERMLINE MUTATIONS | PHENOTYPE | FUNCTIONAL-CHARACTERIZATION | OF-FUNCTION MUTATIONS | MISSENSE MUTATIONS
Journal Article
Journal of Medicinal Chemistry, ISSN 0022-2623, 11/1994, Volume 37, Issue 24, pp. 4227 - 4236
Syntheses of 5'-acyl furanosteroids are described from the corresponding unsubstituted [3,2-b]furanosteroids using acid anhydrides and acid chlorides in the... 
MECHANICAL MOLECULAR-MODELS | CHEMISTRY, MEDICINAL | ANTAGONIST | WIN-49596 | 5-ALPHA-REDUCTASE INHIBITOR | MEN | Furans - metabolism | Animals | Androgen Antagonists - metabolism | Receptors, Androgen - metabolism | Steroids - metabolism | Androgen Antagonists - pharmacology | Rats | Male | Structure-Activity Relationship | Rats, Sprague-Dawley
Journal Article
Journal of the American College of Cardiology, ISSN 0735-1097, 08/2004, Volume 44, Issue 3, pp. 602 - 610
Journal Article
Circulation, ISSN 0009-7322, 11/2016, Volume 134, Issue Suppl_1 Suppl 1, pp. A19858 - A19858
IntroductionRecent guidelines advise that postmortem genetic testing be considered as the new standard of care in the evaluation of sudden death in the young... 
Journal Article
by Lum, R and Bae, J and Okoye, A and Hagen, S.I and Park, H and Legasse, A.W and Axthelm, M.K and Estes, J.D and Estes, J.D and Piatak, M and Lifson, J.D and Picker, L.J and Stampouloglou, E and Cesa, K and Alvino, D and Piechocka-Trocha, A and Pereyra, F and Walker, B and Kløverpris, H.N and Stryhn, A and Stryhn, A and Buus, S and Price, D and Goulder, P and Porichis, F and Hart, M and Barblu, L and Brennan, T.E and Kavanagh, D and Kaufmann, D and Hejblum, B and Skinner, J and Montes, M and Chêne, G and Palucka, K and Banchereau, J and Levy, Y and Dreyer, A.M and Hoot, S and Lippy, A and Stuart, A and Cohen, K.W and Jardine, J and Menis, S and Scheid, J.F and West, A.P and Schief, W.R and Stamatatos, L and Leonavicius, K and Schuster, H and Kong, L and Saliba, R and Wegmann, F and Huang, P and Stewart-Jones, G.B and Schief, W.R and Davis, B.G and Sattentau, Q.J and Grant, M and Killick, M.A and Cerutti, N and Capovilla, A and Epaulard, O and Adam, L and Poux, C and Zurawski, G and Rosenbaum, P and Dereuddre-Bosquet, N and Zurawski, S and Oh, S and Romain, G and Banchereau, J and Lévy, Y and Le Grand, R and Sundling, C and Feng, Y and O'Dell, S and O'Dell, S and Reimann, K and Mascola, J and Wyatt, R and Hedestam, G.B. Karlsson and Ahmed, T and Ahmed, T and Nicola, B and Hayton, E and Hayton, E and Hayton, E and Vasilyeva, E and Frahm, N and Frahm, N and Colloca, S and Nicosia, A and McMichael, A and Dorrell, L and Hanke, T and Hanke, T and Hanke, T and Natalia, R and Zoya, G and ...
AIDS Research and Human Retroviruses, ISSN 0889-2229, 11/2013, Volume 29, Issue 11, pp. A-1 - A-208
Journal Article
Journal of the American College of Cardiology, ISSN 0735-1097, 03/2003, Volume 41, Issue 6, pp. 169 - 169
Journal Article
European validation of SAGE-2 aerosol profiles, ISSN 0065-3713, 11/1988
A SAGE-2 validation program was performed using ground based lidars and balloon-borne polarimetric and photographic experiments. Between the tropopause height... 
Journal Article
by Achberger, Christine and Ackerman, Stephen A and Albanil, Adelina and Alexander, P and Alfaro, Eric J and Allan, Rob and Alves, Lincoln M and Amador, Jorge A and Ambenje, Peter and Andrianjafinirina, Solonomenjanahary and Antonov, John and Aravequia, Jose A and Arendt, A and Arévalo, Juan and Arndt, Derek S and Ashik, I and Atheru, Zachary and Banzon, Viva and Baringer, Molly O and Barreira, Sandra and Barriopedro, David E and Beard, Grant and Becker, Andreas and Behrenfeld, Michael J and Bell, Gerald D and Benedetti, Angela and Bernhard, Germar and Berrisford, Paul and Berry, David I and Bhatt, U and Bidegain, Mario and Bindoff, Nathan and Bissolli, Peter and Blake, Eric S and Blunden, Jessica and Booneeady, Raj and Bosilovich, Michael and Box, J.E and Boyer, Tim and Braathen, Geir O and Bromwich, David H and Brown, R and Brown, L and Bruhwiler, Lori and Bulygina, Olga N and Burgess, D and Burrows, John and Calderón, Blanca and Camargo, Suzana J and Campbell, Jayaka and Cao, Y and Cappelen, J and Carrasco, Gualberto and Chambers, Don P and Chang'A, L and Chappell, Petra and Chehade, Wissam and Cheliah, Muthuvel and Christiansen, Hanne H and Christy, John R and Ciais, Phillipe and Coelho, Caio A.S and Cogley, J.G and Colwell, Steve and Cross, J.N and Crouch, Jake and Cunningham, Stuart A and Dacic, Milan and De Jeu, Richard A.M and Dekaa, Francis S and Demircan, Mesut and Derksen, C and Diamond, Howard J and Dlugokencky, Ed J and Dohan, Kathleen and Dolman, A.Johannes and Domingues, Catia M and Dong, Shenfu and Dorigo, Wouter A and Drozdov, D.S and Duguay, Claude R and Dunn, Robert J.H and Dúran-Quesada, Ana M and Dutton, Geoff S and Ehmann, Christian and Elkins, James W and Euscátegui, Christian and Famiglietti, James S and Fang, Fan and Fauchereau, Nicolas and Feely, Richard A and Fekete, Balázs M and Fenimore, Chris and Fioletov, Vitali E and Fogarty, Chris T and Fogt, Ryan L and Folland, Chris K and Foster, Michael J and Frajka-Williams, Eleanor and Franz, Bryan A and ... and Stockholms universitet and Naturvetenskapliga fakulteten and Institutionen för geologiska vetenskaper
Bulletin of the American Meteorological Society, ISSN 0003-0007, 08/2013, Volume 94, Issue 8, pp. S1 - S238
Journal Article
Journal Article