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Material Type: Artigo
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Immunological and hematological findings as major features in a patient with a new germline pathogenic CBL variantStellacci, Emilia ; Stevenson, David ; Moslehi, Dorsa ; Adams, David R. ; Afzali, Ben ; Allworth, Aimee ; Alvey, Justin ; Ashley, Euan A. ; Bacino, Carlos A. ; Baldwin, Erin ; Bale, Jim ; Beggs, Alan H. ; Behrens, Edward ; Bejerano, Gill ; Bernstein, Jonathan A. ; Blue, Elizabeth ; Burke, Elizabeth A. ; Burrage, Lindsay C. ; Byrd, William E. ; Carey, John ; Cassini, Thomas ; Coakley, Terra R. ; Cobban, Laurel A. ; Cogan, Joy D. ; Coggins, Matthew ; Corona, Rosario I. ; Cuddapah, Vishnu ; D'Souza, Precilla ; Dasari, Surendra ; Dell'Angelica, Esteban C. ; Dipple, Katrina ; Doherty, Daniel ; Dorrani, Naghmeh ; Earl, Dawn ; Esteves, Cecilia ; Ezell, Kimberly ; Fieg, Elizabeth L. ; Fisher, Paul G. ; Gahl, William A. ; Gonzalez, Joanna M. ; Gropman, Andrea ; Hamid, Rizwan ; Hassey, Kelly ; Holm, Ingrid A. ; Hom, Jason ; Horike‐Pyne, Martha ; Hurst, Anna ; Jean‐Marie, Orpa ; Jobanputra, Vaidehi ; Kanca, Oguz ; Kiley, Dana ; Korf, Bruce ; Krakow, Deborah ; Lam, Christina ; Lee, Brendan H. ; Leppig, Kathleen A. ; Longo, Nicola ; Macnamara, Ellen F. ; Mao, Rong ; Marth, Gabor ; Martínez‐Agosto, Julian A. ; McConkie‐Rosell, Allyn ; McMinn, Ashley ; Mikati, Mohamad ; Mitchell, Breanna ; Morimoto, Marie ; Mulvihill, John J. ; Orengo, James P. ; Petcharet, Leoyklang ; Phillips, John A. ; Swerdzewski, Barbara N. Pusey ; Quinlan, Aaron ; Rajagopalan, Ramakrishnan ; Rao, Deepak A. ; Raper, Anna ; Rebelo, Adriana ; Reuter, Chloe M. ; Rives, Lynette ; Rosenthal, Elizabeth ; Sampson, Jacinda B. ; Schedl, Timothy ; Schoch, Kelly ; Seto, Elaine ; Shashi, Vandana ; Sheppeard, Sam ; Sirugo, Giorgio ; Smith, Carson A. ; Solomon, Ben ; Sullivan, Kathleen ; Sybert, Virginia ; Taylor, Herman ; Tekin, Mustafa ; Toro, Camilo ; Ungar, Rachel A. ; Wahl, Colleen E. ; Walker, Melissa ; Wegner, Daniel ; Hubshman, Monika Weisz ; Wheeler, Matthew T. ; Bernstein, Jonathan A.American journal of medical genetics. Part A, 2024-08, Vol.194 (8), p.e63627-n/a [Periódico revisado por pares]Hoboken, USA: John Wiley & Sons, IncTexto completo disponível |
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Undiagnosed Disease Network collaborative approach in diagnosing rare disease in a patient with a mosaic CACNA1D variantGulsevin, Alican ; Hamid, Rizwan ; Neumann, Serena ; Phillips, John A. ; Adams, David R. ; Afzali, Ben ; Andrews, Ashley ; Bademci, Guney ; Balasubramanyam, Ashok ; Baldridge, Dustin ; Bayrak‐Toydemir, Pinar ; Beck, Anita ; Bennett, Jimmy ; Berry, Gerard T. ; Bican, Anna ; Bohnsack, John ; Bonner, Devon ; Borja, Nicholas ; Butte, Manish J. ; Byrd, William E. ; Callaway, Kaitlin ; Carvalho, George ; Chanprasert, Sirisak ; Chinn, Ivan ; Clark, Gary D. ; Cogan, Joy D. ; Coggins, Matthew ; Corner, Brian ; Dipple, Katrina ; Doherty, Daniel ; Douglas, Jessica ; Emrick, Lisa T. ; Eng, Christine M. ; Fogel, Brent L. ; Fu, Jiayu ; Glass, Ian ; Gropman, Andrea ; Halley, Meghan C. ; Hassey, Kelly ; Hayes, Nichole ; Hing, Anne ; Horike‐Pyne, Martha ; Huang, Alden ; Huang, Yan ; Kaitryn, Emerald ; Kanca, Oguz ; Kohler, Jennefer N. ; Krakow, Deborah ; Lam, Christina ; Lanpher, Brendan C. ; Lanza, Ian R. ; Liu, Pengfei ; Longo, Nicola ; Mahoney, Rachel ; Marth, Gabor ; McCray, Alexa T. ; Might, Matthew ; Miller, Danny ; Moretti, Paolo ; Mulvihill, John J. ; Mulvihill, Lindsay ; Neumann, Serena ; Novacic, Donna ; Orengo, James P. ; Pace, Laura ; Pak, Stephen ; Parker, Neil H. ; Pinto e Vairo, Filippo ; Posey, Jennifer E. ; Potocki, Lorraine ; Rader, Daniel J. ; Rosenfeld, Jill A. ; Ruzhnikov, Maura ; Sampson, Jacinda B. ; Schoch, Kelly ; Shashi, Vandana ; Shin, Jimann ; Silverman, Edwin K. ; Skelton, Tammi ; Spillmann, Rebecca C. ; Stergachis, Andrew ; Stoler, Joan M. ; Sutton, Shirley ; Sweetser, David A. ; Tabor, Holly K. ; Tan, Queenie ; Tan, Amelia L. M. ; Tifft, Cynthia J. ; Viskochil, Dave ; Walker, Melissa ; Walley, Nicole M. ; Wambach, Jennifer ; Ward, Patricia A. ; Wegner, Daniel ; Hubshman, Monika Weisz ; Wener, Mark ; Wenger, Tara ; Westerfield, Monte ; Wood, Heidi ; Worley, KimAmerican journal of medical genetics. Part A, 2024-07, Vol.194 (7), p.e63597-n/a [Periódico revisado por pares]Hoboken, USA: John Wiley & Sons, IncTexto completo disponível |
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The prevalence of postacute sequelae of coronavirus disease 2019 in solid organ transplant recipients: Evaluation of risk in the National COVID Cohort CollaborativeVinson, Amanda J. ; Dai, Ran ; French, Evan T. ; Lee, Stephen B. ; Ison, Michael ; Mannon, Roslyn B. ; Wilcox, Adam B. ; Lee, Adam M. ; Manna, Amin ; Saha, Amit ; Olex, Amy ; Zhou, Andrea ; Williams, Andrew E. ; Southerland, Andrew ; Girvin, Andrew T. ; Walden, Anita ; Sharathkumar, Anjali A. ; Amor, Benjamin ; Bates, Benjamin ; Patel, Brijesh ; Alexander, Caleb ; Bramante, Carolyn ; Ward-Caviness, Cavin ; Madlock-Brown, Charisse ; Suver, Christine ; Chute, Christopher ; Gabriel, Davera ; Eichmann, David A. ; Mazzotti, Diego ; Brown, Don ; Boudreau, Eilis ; Hill, Elaine ; Marti, Emily Carlson ; Pfaff, Emily R. ; Mariona, Federico ; Prior, Fred ; Sokos, George ; Mehta, Hemalkumar ; Liu, Hongfang ; Sidky, Hythem ; Pincavitch, Jami ; Harper, Jeremy Richard ; Ge, Jin ; Gagnier, Joel ; Saltz, Joel ; Buse, John ; Mathew, Jomol ; Rutter, Joni L. ; McMurry, Julie A. ; Starren, Justin ; Crowley, Karen ; Bradwell, Katie Rebecca ; Walters, Kellie M. ; Wilkins, Ken ; Cato, Kenrick Dwain ; Murray, Kimberly ; Kostka, Kristin ; Northington, Lavance ; Misquitta, Leonie ; Cottrell, Lesley ; Portilla, Lili ; Deacy, Mariam ; Bissell, Mark M. ; Clark, Marshall ; Emmett, Mary ; Saltz, Mary Morrison ; Palchuk, Matvey B. ; Adams, Meredith ; Temple-O'Connor, Meredith ; Kurilla, Michael G. ; Morris, Michele ; Qureshi, Nabeel ; Safdar, Nasia ; Sharafeldin, Noha ; Sadan, Ofer ; Francis, Patricia A. ; Burgoon, Penny Wung ; Robinson, Peter ; Payne, Philip R.O. ; Fuentes, Rafael ; Patel, Rena ; Moffitt, Richard A. ; Zhu, Richard L. ; Kamaleswaran, Rishi ; Hurley, Robert ; Bozzette, Samuel ; Mallipattu, Sandeep ; Vedula, Satyanarayana ; O'Neil, Shawn T. ; Setoguchi, Soko ; Hong, Stephanie S. ; Johnson, Steve ; Bennett, Tellen D. ; Topaloglu, Umit ; Sheikh, Usman ; Gordon, Valery ; Subbian, Vignesh ; Hernandez, Wenndy ; Cooper, Will ; Hillegass, WilliamAmerican journal of transplantation, 2024-06 [Periódico revisado por pares]Elsevier IncTexto completo disponível |
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The First Comprehensive Chemical Profiling of Vachellia gummifera (Willd.) Kyal. & Boatwr., a Plant with Medicinal ValueKisiriko, Musa ; Noleto‐Dias, Clarice ; Bitchagno, Gabin T. M. ; Naboulsi, Imane ; Anastasiadi, Maria ; Terry, Leon A. ; Sobeh, Mansour ; Beale, Michael H. ; Ward, Jane L.Chemistry & biodiversity, 2024-06, Vol.21 (6), p.e202400396-n/a [Periódico revisado por pares]Switzerland: Wiley Subscription Services, IncTexto completo disponível |
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EFEMP1 haploinsufficiency causes a Marfan‐like hereditary connective tissue disorderForghani, Irman ; Adam, Margaret ; Azamian, Mahshid S. ; Baker, Eva ; Baldridge, Dustin ; Bale, Jim ; Beck, Anita ; Berg‐Rood, Beverly ; Berry, Gerard T. ; Bican, Anna ; Boyd, Brenna ; Briere, Lauren C. ; Burke, Elizabeth A. ; Burrage, Lindsay C. ; Byers, Peter ; Carey, John ; Chang, Ta Chen Peter ; Cogan, Joy D. ; Colley, Heather A. ; D'Souza, Precilla ; Dasari, Surendra ; Dell'Angelica, Esteban C. ; Duncan, Laura ; Eckstein, David J. ; Emrick, Lisa T. ; Eng, Christine M. ; Esteves, Cecilia ; Fernandez, Liliana ; Fieg, Elizabeth L. ; Forghani, Irman ; Gochuico, Bernadette ; Grajewski, Alana ; Hahn, Sihoun ; Hamid, Rizwan ; High, Frances ; Hing, Anne ; Hisama, Fuki M. ; Holm, Ingrid A. ; Huang, Yong ; Jamal, Fariha ; Jayadev, Suman ; Kohler, Jennefer N. ; Krakow, Deborah ; Kravets, Elijah ; Koziura, Mary ; Lam, Byron ; Lam, Christina ; Lanza, Ian R. ; LeBlanc, Kimberly ; Lee, Brendan H. ; Lee, Hane ; Levitt, Roy ; Liu, Pengfei ; Maas, Richard L. ; Macnamara, Ellen F. ; Maduro, Valerie V. ; Majcherska, Marta M. ; Manolio, Teri A. ; Marth, Gabor ; Martínez‐Agosto, Julian A. ; Marwaha, Shruti ; McCauley, Jacob ; McConkie‐Rosell, Allyn ; McGee, Elisabeth ; Might, Matthew ; Mirzaa, Ghayda ; Moretti, Paolo M. ; Mosbrook‐Davis, Deborah ; Murdock, David R. ; Nieves‐Rodriguez, Shirley ; Parker, Neil H. ; Phillips, John A. ; Power, Bradley ; Pusey, Barbara N. ; Quinlan, Aaron ; Raskind, Wendy ; Sacco, Ralph ; Sampson, Jacinda B. ; Saporta, Mario ; Shin, Jimann ; Silverman, Edwin K. ; Sinsheimer, Janet S. ; Solem, Emily ; Stoler, Joan M. ; Sun, Angela ; Tabor, Holly K. ; Tan, Amelia L. M. ; Telischi, Fred ; Tifft, Cynthia J. ; Toro, Camilo ; Tucker, Brianna M. ; Vogel, Tiphanie P. ; Wambach, Jennifer ; Wang, Lee‐kai ; Wegner, Daniel ; Wenger, Tara ; Westerfield, Monte ; Wolfe, Lynne A. ; Zein, Wadih ; Zuchner, StephanAmerican journal of medical genetics. Part A, 2024-06, Vol.194 (6), p.e63556-n/a [Periódico revisado por pares]Hoboken, USA: John Wiley & Sons, IncTexto completo disponível |
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A circumpolar study unveils a positive non‐linear effect of temperature on arctic arthropod availability that may reduce the risk of warming‐induced trophic mismatch for breeding shorebirdsChagnon‐Lafortune, Aurélie ; Duchesne, Éliane ; Legagneux, Pierre ; McKinnon, Laura ; Reneerkens, Jeroen ; Casajus, Nicolas ; Abraham, Kenneth F. ; Bolduc, Élise ; Brown, Glen S. ; Brown, Stephen C. ; Gates, H. River ; Gilg, Olivier ; Giroux, Marie‐Andrée ; Gurney, Kirsty ; Kendall, Steve ; Kwon, Eunbi ; Lanctot, Richard B. ; Lank, David B. ; Lecomte, Nicolas ; Leung, Maria ; Liebezeit, Joseph R. ; Morrison, R. I. Guy ; Nol, Erica ; Payer, David C. ; Reid, Donald ; Ruthrauff, Daniel ; Saalfeld, Sarah T. ; Sandercock, Brett K. ; Smith, Paul A. ; Schmidt, Niels Martin ; Tulp, Ingrid ; Ward, David H. ; Høye, Toke T. ; Berteaux, Dominique ; Bêty, JoëlGlobal change biology, 2024-06, Vol.30 (6), p.e17356-n/a [Periódico revisado por pares]Oxford: Blackwell Publishing LtdTexto completo disponível |
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Proactive case finding of alcohol‐related liver disease in high‐risk populations: A systematic reviewArcher, Ann J. ; Phillips, Jennifer ; Subhani, Mohsan ; Ward, Zoe ; Gordon, Fiona H. ; Hickman, Matthew ; Dhanda, Ashwin D. ; Abeysekera, Kushala W. M.Liver international, 2024-06, Vol.44 (6), p.1298-1308 [Periódico revisado por pares]United States: Wiley Subscription Services, IncTexto completo disponível |
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The protective effect of dietary folate intake on gastric cancer is modified by alcohol consumption: A pooled analysis of the StoP ConsortiumGonzalez-Palacios, Sandra ; Compañ-Gabucio, Laura-María ; Torres-Collado, Laura ; Oncina-Canovas, Alejandro ; García-de-la-Hera, Manuela ; Collatuzzo, Giulia ; Negri, Eva ; Pelucchi, Claudio ; Rota, Matteo ; López-Carrillo, Lizbeth ; Lunet, Nuno ; Morais, Samantha ; Ward, Mary H ; Martin, Vicente ; Lozano-Lorca, Macarena ; Malekzadeh, Reza ; Pakseresht, Mohammadreza ; Hernández-Ramírez, Raúl Ulises ; Bonzi, Rossella ; Patel, Linia ; López-Cervantes, Malaquias ; Rabkin, Charles S ; Tsugane, Shoichiro ; Hidaka, Akihisa ; Trichopoulou, Antonia ; Karakatsani, Anna ; Camargo, M Constanza ; Curado, Maria Paula ; Zhang, Zuo-Feng ; La Vecchia, Carlo ; Boffetta, Paolo ; Vioque, JesúsInternational journal of cancer, 2024-05 [Periódico revisado por pares]United StatesTexto completo disponível |
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The Cyanoketenyl Anion [NC3O]Krischer, Felix ; Swamy, Varre S. V. S. N. ; Feichtner, Kai‐Stephan ; Ward, Robert J. ; Gessner, Viktoria H.Angewandte Chemie International Edition, 2024-05, Vol.63 (20), p.e202403766-n/a [Periódico revisado por pares]Germany: Wiley Subscription Services, IncTexto completo disponível |
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The Cyanoketenyl Anion [NC3O]Krischer, Felix ; Swamy, Varre S. V. S. N. ; Feichtner, Kai‐Stephan ; Ward, Robert J. ; Gessner, Viktoria H.Angewandte Chemie, 2024-05, Vol.136 (20), p.n/a [Periódico revisado por pares]Weinheim: Wiley Subscription Services, IncTexto completo disponível |