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Material Type: Artigo
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Mode of life and habitat of scaphitid ammonitesLandman, Neil H. ; Cobban, William A. ; Larson, Neal L.Geobios, 2012-01, Vol.45 (1), p.87-98 [Periódico revisado por pares]Paris: Elsevier SASTexto completo disponível |
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Material Type: Artigo
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Interregional correlation of disconformities in Upper Cretaceous strata, Western Interior Seaway; biostratigraphic and sequence-stratigraphic evidence for eustatic changeWalaszczyk, Ireneusz ; Shank, Joel A ; Plint, A. Guy ; Cobban, William AGeological Society of America bulletin, 2014-03, Vol.126 (3-4), p.307-316 [Periódico revisado por pares]Boulder: Geological Society of America (GSA)Texto completo disponível |
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Material Type: Artigo
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High-dimensional immunophenotyping reveals immune cell aberrations in patients with undiagnosed inflammatory and autoimmune diseasesMueller, Alisa A ; Sasaki, Takanori ; Keegan, Joshua W ; Nguyen, Jennifer P ; Griffith, Alec ; Horisberger, Alice M ; Licata, Thomas ; Fieg, Elizabeth ; Cao, Ye ; Elahee, Mehreen ; Marks, Kathryne E ; Simmons, Daimon P ; Briere, Lauren C ; Cobban, Laurel A ; Pallais, J Carl ; High, Frances A ; Walker, Melissa A ; Linnoila, Jenny J ; Sparks, Jeffrey A ; Holers, V Michael ; Costenbader, Karen H ; Sweetser, David A ; Krier, Joel B ; Loscalzo, Joseph ; Lederer, James A ; Rao, Deepak AThe Journal of clinical investigation, 2023-12, Vol.133 (24), p.1-3 [Periódico revisado por pares]United States: American Society for Clinical InvestigationTexto completo disponível |
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Material Type: Artigo
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Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal AcidificationBecerril, Alissa ; Larson, Austin ; Zerfas, Patricia M. ; Acosta, Maria T. ; Agrawal, Pankaj ; Alejandro, Mercedes E. ; Andrews, Ashley ; Bacino, Carlos A. ; Bademci, Guney ; Baker, Eva ; Baldridge, Dustin ; Bale, Jim ; Barbouth, Deborah ; Batzli, Gabriel F. ; Bayrak-Toydemir, Pinar ; Bernstein, Jonathan A. ; Birch, Camille L. ; Bivona, Stephanie ; Bohnsack, John ; Bonnenmann, Carsten ; Bostwick, Bret L. ; Brokamp, Elly ; Burrage, Lindsay C. ; Carey, John ; Clark, Gary D. ; Cope, Heidi ; Dasari, Surendra ; Dayal, Jyoti G. ; Dorset, Daniel C. ; Eng, Christine M. ; Esteves, Cecilia ; Fresard, Laure ; Goldman, Alica M. ; Goldstein, David B. ; Groden, Catherine A. ; Haendel, Melissa ; Hayes, Nichole ; Holm, Ingrid A. ; Jiang, Yong-hui ; Johnston, Jean M. ; Jones, Angela L. ; Kohane, Isaac S. ; Krakow, Deborah ; Krasnewich, Donna M. ; Korrick, Susan ; Krier, Joel B. ; Lalani, Seema R. ; Lam, Byron ; Lazar, Jozef ; Levy, Shawn E. ; Liu, Xue Zhong ; Malicdan, May Christine V. ; Mamounas, Laura A. ; Markello, Thomas C. ; Marom, Ronit ; Martínez-Agosto, Julian A. ; McCormack, Colleen E. ; McCray, Alexa T. ; Might, Matthew ; Morava-Kozicz, Eva ; Murdock, David R. ; Nath, Avi ; Nelson, Stan F. ; Newman, John H. ; Orengo, James P. ; Pace, Laura ; Papp, Jeanette C. ; Parker, Neil H. ; Potocki, Lorraine ; Raja, Archana N. ; Reuter, Chloe M. ; Rives, Lynette ; Rowley, Robb K. ; Sampson, Jacinda B. ; Saporta, Mario ; Schedl, Timothy ; Shields, Kathleen ; Signer, Rebecca ; Sillari, Catherine H. ; Sisco, Kathy ; Spillmann, Rebecca C. ; Stoler, Joan M. ; Stong, Nicholas ; Sullivan, Jennifer A. ; Tekin, Mustafa ; Thorson, Willa ; Tran, Alyssa A. ; Wahl, Colleen E. ; Wan, Jijun ; Wang, Lee-kai ; Wangler, Michael F. ; Westerfield, Monte ; Wheeler, Matthew T. ; Wolfe, Lynne A. ; Woods, Jeremy D. ; Worthey, Elizabeth A. ; Yamamoto, Shinya ; Zuchner, Stephan ; Day-Salvatore, Debra L. ; Mindell, Joseph A.American journal of human genetics, 2019-06, Vol.104 (6), p.1127-1138 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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Sequence stratigraphy of the Mancos Shale, lower Tres Hermanos Formation, and coeval middle Cenomanian to middle Turonian strata, southern New Mexico, USAMack, Greg H. ; Hook, Stephen ; Giles, Katherine A. ; Cobban, William A. Hampson, Gary ; Hampson, GarySedimentology, 2016-06, Vol.63 (4), p.781-808 [Periódico revisado por pares]Madrid: Blackwell Publishing LtdTexto completo disponível |
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Material Type: Artigo
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Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β SignalingJohnson, Brett V. ; Alexander, Suzy ; Vega, Michelle Sanchez ; Domingo, Deepti ; Oh, Tracey ; Lines, Matthew ; Grønborg, Sabine ; Mercier, Sandra ; Küry, Sébastien ; Billette de Villemeur, Thierry ; Koolen, David A. ; Sa, Joaquim ; Santiago-Fernández, Olaya ; Fernández-Jaén, Alberto ; Goldstein, Amy ; Madan-Khetarpal, Suneeta ; Sullivan, Jennifer A. ; Bacino, Carlos A. ; Baker, Eva ; Bellen, Hugo J. ; Bernstein, Jonathan A. ; Bick, David P. ; Butte, Manish J. ; Davids, Mariska ; Davidson, Jean M. ; Dayal, Jyoti G. ; Dhar, Shweta U. ; Douine, Emilie D. ; Draper, David D. ; Emrick, Lisa T. ; Esteves, Cecilia ; Estwick, Tyra ; Fernandez, Liliana ; Ferreira, Carlos ; Forghani, Irman ; Friedman, Noah D. ; Gahl, William A. ; Godfrey, Rena A. ; Hanchard, Neil A. ; Jiang, Yong-hui ; Karaviti, Lefkothea ; Korrick, Susan ; Koziura, Mary ; Krier, Joel B. ; Lanpher, Brendan C. ; LeBlanc, Kimberly ; Lee, Brendan H. ; Liu, Xue Zhong ; Marwaha, Shruti ; McCauley, Jacob ; Morimoto, Marie ; Nath, Avi ; Nelson, Stan F. ; Newman, John H. ; Oglesbee, Devin ; Orengo, James P. ; Pak, Stephen ; Parker, Neil H. ; Phillips, John A. ; Reuter, Chloe M. ; Rives, Lynette ; Robertson, Amy K. ; Rodan, Lance H. ; Sampson, Jacinda B. ; Schedl, Timothy ; Shakachite, Lisa ; Sharma, Prashant ; Signer, Rebecca ; Silverman, Edwin K. ; Sinsheimer, Janet S. ; Tekin, Mustafa ; Thorson, Willa ; Tran, Alyssa A. ; Vogel, Tiphanie P. ; Wahl, Colleen E. ; Walsh, Chris A. ; Wang, Lee-kai ; Wangler, Michael F. ; Worthey, Elizabeth A. ; Yu, Guoyun ; Zastrow, Diane B. ; Zhao, Chunli ; Gahl, William ; Sullivan, Jennifer A. ; Barnett, Sarah S. ; Perry, M. Scott ; Schuette, Jane L. ; Smith, Laurie D. ; Rosenfeld, Jill A. ; Bhoj, Elizabeth ; Kaplan, Paige ; Oegema, Renske ; Armstrong, Martin ; Lin, Angela E. ; Hollander, Nicolette den ; Hoffer, Mariëtte J.V. ; Mosher, Theresa Mihalic ; Tezcan, Kamer ; Penzes, Peter ; Piper, MichaelBiological psychiatry (1969), 2020-01, Vol.87 (2), p.100-112 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic DecompensationMao, Dongxue ; Reuter, Chloe M. ; Farrow, Emily G. ; Rosenfeld, Jill A. ; Mackenzie, Katherine M. ; Küry, Sébastien ; Genetti, Casie A. ; Alejandro, Mercedes ; Agrawal, Pankaj B. ; Alvey, Justin ; Ashley, Euan A. ; Balasubramanyam, Ashok ; Beck, Anita ; Bellen, Hugo J. ; Berg-Rood, Beverly ; Bernier, Raphael ; Bivona, Stephanie ; Bohnsack, John ; Briere, Lauren C. ; Burke, Elizabeth A. ; Butte, Manish J. ; Carrasquillo, Olveen ; Cogan, Joy D. ; Cole, F. Sessions ; Colley, Heather A. ; Cooper, Cynthia M. ; Craigen, William J. ; Cunningham, Michael ; Dasari, Surendra ; Dayal, Jyoti G. ; Dhar, Shweta U. ; Emrick, Lisa T. ; Estwick, Tyra ; Ferreira, Carlos ; Fieg, Elizabeth L. ; Fogel, Brent L. ; Forghani, Irman ; Gahl, William A. ; Godfrey, Rena A. ; Goldman, Alica M. ; Hahn, Sihoun ; Hanchard, Neil A. ; Hing, Anne ; Holm, Ingrid A. ; Huang, Yong ; Jamal, Fariha ; Jayadev, Suman ; Karaviti, Lefkothea ; Kelley, Emily G. ; Kohane, Isaac S. ; Kohler, Jennefer N. ; Krakow, Deborah ; Korrick, Susan ; Koziura, Mary ; Krier, Joel B. ; Lam, Byron ; Lanpher, Brendan C. ; Lanza, Ian R. ; Lee, Brendan H. ; Lewis, Richard A. ; Loo, Sandra K. ; Majcherska, Marta M. ; Malicdan, May Christine V. ; Mamounas, Laura A. ; Markello, Thomas C. ; Martin, Martin G. ; Martínez-Agosto, Julian A. ; McCormack, Colleen E. ; Merritt, J. Lawrence ; Moretti, Paolo M. ; Mulvihill, John J. ; Murdock, David R. ; Nickerson, Deborah ; Pallais, J. Carl ; Posey, Jennifer E. ; Potocki, Lorraine ; Raja, Archana N. ; Renteria, Genecee ; Rosenfeld, Jill A. ; Samson, Susan L. ; Schedl, Timothy ; Shakachite, Lisa ; Signer, Rebecca ; Silverman, Edwin K. ; Sybert, Virginia ; Tekin, Mustafa ; Thorson, Willa ; Tran, Alyssa A. ; Urv, Tiina K. ; Wahl, Colleen E. ; Wegner, Daniel ; Wheeler, Matthew T. ; Yamamoto, Shinya ; Yang, John ; Yoon, Amanda J. ; Yu, Guoyun ; Zastrow, Diane B. ; Zhao, Chunli ; Bernstein, Jonathan A. ; Chao, Hsiao-TuanAmerican journal of human genetics, 2020-04, Vol.106 (4), p.570-583 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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Large-scale mutational analysis identifies UNC93B1 variants that drive TLR-mediated autoimmunity in mice and humansRael, Victoria E ; Yano, Julian A ; Huizar, John P ; Slayden, Leianna C ; Weiss, Madeleine A ; Turcotte, Elizabeth A ; Terry, Jacob M ; Zuo, Wenqi ; Thiffault, Isabelle ; Pastinen, Tomi ; Farrow, Emily G ; Jenkins, Janda L ; Becker, Mara L ; Wong, Stephen C ; Stevens, Anne M ; Otten, Catherine ; Allenspach, Eric J ; Bonner, Devon E ; Bernstein, Jonathan A ; Wheeler, Matthew T ; Saxton, Robert A ; Liu, Bo ; Majer, Olivia ; Barton, Gregory MThe Journal of experimental medicine, 2024-08, Vol.221 (8) [Periódico revisado por pares]United StatesTexto completo disponível |
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Material Type: Artigo
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Bi-allelic variants in INTS11 are associated with a complex neurological disorderTepe, Burak ; Cogne, Benjamin ; Neil, Jennifer E. ; Walsh, Christopher A. ; Magal, Nurit ; Drasinover, Valerie ; Schwab, Tanya ; Schmitz, Chris ; Clark, Karl ; Blanc, Pierre ; Bademci, Guney ; Balasubramanyam, Ashok ; Baldridge, Dustin ; Bayrak-Toydemir, Pinar ; Beck, Anita ; Behrens, Edward ; Bican, Anna ; Bivona, Stephanie ; Blue, Elizabeth ; Boyd, Brenna ; Briere, Lauren C. ; Brown, Gabrielle ; Byers, Peter ; Byrd, William E. ; Carey, John ; Clark, Gary D. ; Coakley, Terra R. ; Colley, Heather A. ; Craigen, William J. ; Cunningham, Michael ; Dasari, Surendra ; Dayal, Jyoti G. ; Deardorff, Matthew ; Dipple, Katrina ; Doherty, Daniel ; Doss, Argenia L. ; Emrick, Lisa T. ; Fernandez, Liliana ; Forghani, Irman ; Glass, Ian ; Gochuico, Bernadette ; Golden-Grant, Katie ; Goldrich, Madison P. ; Gutierrez, Irma ; Hamid, Rizwan ; Hayes, Nichole ; Hom, Jason ; Horike-Pyne, Martha ; Isasi, Rosario ; Jarvik, Jeffrey ; Jobanputra, Vaidehi ; Karaviti, Lefkothea ; Kiley, Dana ; Kobren, Shilpa N. ; Krasnewich, Donna M. ; LeBlanc, Kimberly ; Levitt, Roy ; Mahoney, Rachel ; Malicdan, May Christine V. ; Mamounas, Laura A. ; Mao, Rong ; Maravilla, Kenneth ; Marom, Ronit ; Martin, Martin G. ; Martínez-Agosto, Julian A. ; Merritt, J. Lawrence ; Morava, Eva ; Newman, John H. ; Nickerson, Deborah ; Novacic, Donna ; Oglesbee, Devin ; Pace, Laura ; Palmer, Christina GS ; Papp, Jeanette C. ; Rao, Deepak A. ; Renteria, Genecee ; Reuter, Chloe M. ; Robertson, Amy K. ; Rosenfeld, Jill A. ; Rossignol, Francis ; Ruzhnikov, Maura ; Scott, C. Ron ; Shin, Jimann ; Sinsheimer, Janet S. ; Sullivan, Jennifer A. ; Sun, Angela ; Tabor, Holly K. ; Telischi, Fred ; Toro, Camilo ; Tucker, Brianna M. ; Urv, Tiina K. ; Vogel, Tiphanie P. ; Walker, Melissa ; Wangler, Michael F. ; Perry, Katherine Wesseling ; Westerfield, Monte ; Wolfe, Lynne A. ; Worley, Kim ; Xiao, Changrui ; Zuchner, StephanAmerican journal of human genetics, 2023-05, Vol.110 (5), p.774-789 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3Michener, Sydney L. ; Chan, Hiuling ; Rosenfeld, Jill A. ; Bekheirnia, Mir Reza ; Wagner, Matias ; Engels, Hartmut ; Guillen Sacoto, Maria J. ; McDonnell, Pamela P. ; Pastinen, Tomi ; Zhou, Dihong ; Bolton, Jeffrey ; Julia Suh, Dong Sun ; Toosi, Mehran Beiraghi ; Maroofian, Reza ; Schaefer, Gerald Bradley ; Russ-Hall, Sophie ; Carvill, Gemma L. ; Mefford, Heather ; Acosta, Maria T. ; Adams, David R. ; Amendola, Laura ; Bademci, Guney ; Balasubramanyam, Ashok ; Beck, Anita ; Bican, Anna ; Blue, Elizabeth ; Botto, Lorenzo ; Boyd, Brenna ; Briere, Lauren C. ; Brown, Gabrielle ; Carey, John ; Crouse, Andrew B. ; Dipple, Katrina ; Doss, Argenia L. ; Douine, Emilie D. ; Eckstein, David J. ; Fieg, Elizabeth L. ; Forghani, Irman ; Godfrey, Rena A. ; Grajewski, Alana ; Hahn, Sihoun ; Hisama, Fuki M. ; Hutchison, Sarah ; Introne, Wendy ; Ketkar, Shamika ; Kiley, Dana ; Kilich, Gonench ; Korrick, Susan ; Kozuira, Mary ; Krakow, Deborah ; Kravets, Elijah ; Lalani, Seema R. ; LeBlanc, Kimberly ; Levitt, Roy ; Lewis, Richard A. ; Loo, Sandra K. ; Mahoney, Rachel ; Mao, Rong ; Maravilla, Kenneth ; Marwaha, Shruti ; McCray, Alexa T. ; Mefford, Heather ; Merritt, J. Lawrence ; Morava, Eva ; Nakano-Okuno, Mariko ; Nelson, Stanley F. ; Phillips III, John A. ; Posey, Jennifer E. ; Potocki, Lorraine ; Rao, Deepak A. ; Raskind, Wendy ; Renteria, Genecee ; Reuter, Chloe M. ; Robertson, Amy K. ; Rossignol, Francis ; Ruzhnikov, Maura ; Saporta, Mario ; Seto, Elaine ; Sisco, Kathy ; Spillmann, Rebecca C. ; Stoler, Joan M. ; Tabor, Holly K. ; Tan, Queenie K.-G. ; Tan, Amelia L.M. ; Telischi, Fred ; Tifft, Cynthia J. ; Toro, Camilo ; Tran, Alyssa A. ; Ungar, Rachel A. ; Vogel, Tiphanie P. ; Wallace, Stephanie ; Wambach, Jennifer ; Wegner, Daniel ; Wener, Mark ; Wenger, Tara ; Westerfield, Monte ; Worley, Kim ; Xiao, Changrui ; Yang, John ; Chao, Hsiao-TuanAmerican journal of human genetics, 2024-01, Vol.111 (1), p.96-118 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |