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IRF2BPL Is Associated with Neurological Phenotypes
IRF2BPL Is Associated with Neurological Phenotypes
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IRF2BPL Is Associated with Neurological Phenotypes

Marcogliese, Paul C. ; Rosenfeld, Jill A. ; Koenig, Mary Kay ; Chen, Agnes H. ; Dickson, Patricia I. ; Vera, Moin U. ; Salamon, Noriko ; Infante, Elena ; Poppe, Bruce ; Chung, Hyung-Lok ; Zuo, Zhongyuan ; Kanca, Oguz ; Xia, Fan ; Smith, Edward C. ; Jasien, Joan ; Kansagra, Sujay ; Lark, Robert ; Riley, Kacie ; Golden-Grant, Katie ; Poppe, Bruce ; Terryn, Wim ; Adams, David R. ; Allard, Patrick ; Bacino, Carlos A. ; Bick, David P. ; Bostwick, Bret L. ; Brush, Matthew ; Burrage, Lindsay C. ; Clark, Gary D. ; Cooper, Cynthia M. ; D’Souza, Precilla ; Davids, Mariska ; Dell’Angelica, Esteban C. ; Dhar, Shweta U. ; Dillon, Ani ; Dorrani, Naghmeh ; Dorset, Daniel C. ; Esteves, Cecilia ; Fogel, Brent L. ; Gahl, William A. ; Gourdine, Jean-Philippe F. ; Haendel, Melissa ; Hamid, Rizwan ; Hanchard, Neil A. ; Howerton, Ellen M. ; Jiang, Yong-hui ; Johnston, Jean M. ; Krier, Joel B. ; Lalani, Seema R. ; Lau, C. Christopher ; Lee, Brendan H. ; Levy, Shawn E. ; Lewis, Richard A. ; Lipson, Allen ; Loo, Sandra K. ; Macnamara, Ellen F. ; MacRae, Calum A. ; Manolio, Teri A. ; Martínez-Agosto, Julian A. ; McConkie-Rosell, Allyn ; McCormack, Colleen E. ; Morimoto, Marie ; Mulvihill, John J. ; Muzny, Donna M. ; Nelson, Stan F. ; Newberry, J. Scott ; Nicholas, Sarah K. ; Pallais, J. Carl ; Palmer, Christina G.S. ; Papp, Jeanette C. ; Parker, Neil H. ; Phillips, John A. ; Posey, Jennifer E. ; Postlethwait, John H. ; Potocki, Lorraine ; Robertson, Amy K. ; Sampson, Jacinda B. ; Schoch, Kelly ; Shashi, Vandana ; Smith, Kevin S. ; Splinter, Kimberly ; Stoler, Joan M. ; Sweetser, David A. ; Toro, Camilo ; Urv, Tiina K. ; Vilain, Eric ; Vogel, Tiphanie P. ; Wahl, Colleen E. ; Walley, Nicole M. ; Walsh, Chris A. ; Waters, Katrina M. ; Westerfield, Monte ; Yu, Guoyun ; Zheng, Allison ; Yamamoto, Shinya ; Wangler, Michael F. ; Lee, Brendan ; Nelson, Stanley F. ; Goldstein, David B. ; Bellen, Hugo J.

American journal of human genetics, 2018-08, Vol.103 (2), p.245-260 [Periódico revisado por pares]

United States: Elsevier Inc

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2
Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay
Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay
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Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay

Sullivan, Jennifer A. ; Shashi, Vandana ; Jiang, Yong-hui ; Stong, Nicholas ; Fiala, Elise ; Willing, Marcia ; Pfundt, Rolph ; Kleefstra, Tjitske ; Orellana, Carmen ; Monfort, Sandra ; Roscioli, Tony ; Jones, Wendy D. ; Sebastian, Jessica ; Sonal, Desai ; Sakkubai, Naidu ; Faivre, Laurence ; Krantz, Ian D. ; Adams, David R. ; Alejandro, Mercedes E. ; Azamian, Mahshid S. ; Barseghyan, Hayk ; Batzli, Gabriel F. ; Beggs, Alan H. ; Bican, Anna ; Birch, Camille L. ; Bonner, Devon ; Boone, Braden E. ; Briere, Lauren C. ; Brown, Donna M. ; Brush, Matthew ; Chen, Shan ; Coakley, Terra R. ; Cooper, Cynthia M. ; Cope, Heidi ; Craigen, William J. ; Dayal, Jyoti G. ; Dell’Angelica, Esteban C. ; Dillon, Ani ; Dipple, Katrina M. ; Donnell-Fink, Laurel A. ; Dorrani, Naghmeh ; Dorset, Daniel C. ; Eskin, Ascia ; Friedman, Noah D. ; Glanton, Emily ; Godfrey, Rena A. ; Gould, Sarah E. ; Gropman, Andrea L. ; Hom, Jason ; Jacob, Howard J. ; Jain, Mahim ; Jiang, Yong-hui ; Kohane, Isaac S. ; Krieg, Elizabeth L. ; Lau, C. Christopher ; Lazar, Jozef ; Lee, Brendan H. ; Lee, Hane ; Lewis, Richard A. ; Loo, Sandra K. ; Majcherska, Marta M. ; Malicdan, May Christine V. ; Mamounas, Laura A. ; Markello, Thomas C. ; Martínez-Agosto, Julian A. ; Marwaha, Shruti ; May, Thomas ; McCray, Alexa T. ; Might, Matthew ; Mulvihill, John J. ; Murphy, Jennifer L. ; Nelson, Stan F. ; Newman, John H. ; Novacic, Donna ; Orange, Jordan S. ; Pallais, J. Carl ; Pena, Loren D.M. ; Phillips, John A. ; Postlethwait, John H. ; Reuter, Chloe M. ; Rosenfeld, Jill A. ; Sharma, Prashant ; Shashi, Vandana ; Signer, Rebecca ; Sinsheimer, Janet S. ; Spillmann, Rebecca C. ; Splinter, Kimberly ; Stoler, Joan M. ; Stong, Nicholas ; Sweetser, David A. ; Tran, Alyssa A. ; Valivullah, Zaheer M. ; Wahl, Colleen E. ; Waters, Katrina M. ; Westerfield, Monte ; Wise, Anastasia L. ; Worthey, Elizabeth A. ; Yang, Yaping ; Zastrow, Diane B. ; Campeau, Philippe M.

American journal of human genetics, 2019-01, Vol.104 (1), p.164-178 [Periódico revisado por pares]

United States: Elsevier Inc

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3
De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation
De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation
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De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation

Mao, 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-Tuan

American journal of human genetics, 2020-04, Vol.106 (4), p.570-583 [Periódico revisado por pares]

United States: Elsevier Inc

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4
IRF2BPL Is Associated with Neurological Phenotypes
IRF2BPL Is Associated with Neurological Phenotypes
Material Type:
Artigo 		Adicionar ao Meu Espaço

IRF2BPL Is Associated with Neurological Phenotypes

Shashi, Vandana ; Spillmann, Rebecca C. ; Stong, Nicholas ; Rosenfeld, Jill A. ; Martínez-Agosto, Julián A. ; Herzog, Matthew ; Chen, Agnes H. ; Dickson, Patricia I. ; Vera, Moin U. ; Graham, John M. ; Infante, Elena ; Zuo, Zhongyuan ; Lee, Pei-Tseng ; Xia, Fan ; Smith, Edward C. ; Jasien, Joan ; Spiridigliozzi, Gail ; Koeberl, Dwight D. ; Golden-Grant, Katie ; Terryn, Wim ; Adams, David R. ; Allard, Patrick ; Bacino, Carlos A. ; Bick, David P. ; Bostwick, Bret L. ; Brush, Matthew ; Burrage, Lindsay C. ; Clark, Gary D. ; Coakley, Terra R. ; Cooper, Cynthia M. ; D’Souza, Precilla ; Davids, Mariska ; Dell’Angelica, Esteban C. ; Dhar, Shweta U. ; Dillon, Ani ; Dorrani, Naghmeh ; Dorset, Daniel C. ; Douine, Emilie D. ; Esteves, Cecilia ; Fogel, Brent L. ; Gahl, William A. ; Gourdine, Jean-Philippe F. ; Haendel, Melissa ; Hamid, Rizwan ; Hanchard, Neil A. ; Howerton, Ellen M. ; Jiang, Yong-hui ; Johnston, Jean M. ; Krier, Joel B. ; Lalani, Seema R. ; Lau, C. Christopher ; Lee, Brendan H. ; Levy, Shawn E. ; Lewis, Richard A. ; Lipson, Allen ; Loo, Sandra K. ; Macnamara, Ellen F. ; MacRae, Calum A. ; Manolio, Teri A. ; Martínez-Agosto, Julian A. ; McConkie-Rosell, Allyn ; McCormack, Colleen E. ; Morimoto, Marie ; Mulvihill, John J. ; Muzny, Donna M. ; Nelson, Stan F. ; Newberry, J. Scott ; Nicholas, Sarah K. ; Pallais, J. Carl ; Palmer, Christina G.S. ; Papp, Jeanette C. ; Parker, Neil H. ; Phillips, John A. ; Posey, Jennifer E. ; Postlethwait, John H. ; Potocki, Lorraine ; Robertson, Amy K. ; Sampson, Jacinda B. ; Samson, Susan L. ; Schoch, Kelly ; Silverman, Edwin K. ; Smith, Kevin S. ; Splinter, Kimberly ; Stoler, Joan M. ; Sweetser, David A. ; Toro, Camilo ; Urv, Tiina K. ; Vilain, Eric ; Vogel, Tiphanie P. ; Wahl, Colleen E. ; Walley, Nicole M. ; Walsh, Chris A. ; Waters, Katrina M. ; Westerfield, Monte ; Yamamoto, Shinya ; Yu, Guoyun ; Zheng, Allison ; Wangler, Michael F. ; Nelson, Stanley F. ; Bellen, Hugo J.

American journal of human genetics, 2018-09, Vol.103 (3), p.456-456 [Periódico revisado por pares]

United States: Elsevier Inc

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5
Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes
Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes
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Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes

Phillips, Jennifer B. ; Lanza, Denise G. ; Jain, Mahim ; Raman, Vandana ; Chitayat, David ; Chinn, Ivan K. ; Bertuch, Alison A. ; Bamshad, Michael ; Savarirayan, Ravi ; Doddapaneni, Harsha ; Muzny, Donna ; Gibbs, Richard A. ; Rosenfeld, Jill A. ; Postlethwait, John ; Beaudet, Arthur L. ; Ranza, Emmanuelle ; Cormier-Daire, Valérie ; Orange, Jordan S. ; Allard, Patrick ; Barseghyan, Hayk ; Batzli, Gabriel F. ; Beggs, Alan H. ; Bellen, Hugo J. ; Bernstein, Jonathan A. ; Bick, David P. ; Briere, Lauren C. ; Brokamp, Elly ; Brush, Matthew ; Coakley, Terra R. ; Cope, Heidi ; Davidson, Jean M. ; Dayal, Jyoti G. ; Dhar, Shweta U. ; Dipple, Katrina M. ; Dorrani, Naghmeh ; Duncan, Laura ; Emrick, Lisa T. ; Eng, Christine M. ; Enns, Gregory M. ; Fisher, Paul G. ; Friedman, Noah D. ; Gahl, William A. ; Glanton, Emily ; Goldman, Alica M. ; Gourdine, Jean-Philippe F. ; Groden, Catherine A. ; Haendel, Melissa ; Hamid, Rizwan ; High, Frances ; Huang, Yong ; Karaviti, Lefkothea ; Kohler, Jennefer N. ; Krasnewich, Donna M. ; Korrick, Susan ; Krier, Joel B. ; Kyle, Jennifer E. ; Lau, C. Christopher ; Lee, Hane ; Loo, Sandra K. ; Loscalzo, Joseph ; Martin, Martin G. ; Martínez-Agosto, Julian A. ; Marwaha, Shruti ; McCormack, Colleen E. ; McCray, Alexa T. ; Metz, Thomas O. ; Murdock, David R. ; Newberry, J. Scott ; Nicholas, Sarah K. ; Palmer, Christina G.S. ; Papp, Jeanette C. ; Phillips, John A. ; Posey, Jennifer E. ; Pusey, Barbara N. ; Sampson, Jacinda B. ; Shakachite, Lisa ; Signer, Rebecca ; Silverman, Edwin K. ; Spillmann, Rebecca C. ; Stoler, Joan M. ; Stong, Nicholas ; Sweetser, David A. ; Tan, Queenie K.-G. ; Tran, Alyssa A. ; Vogel, Tiphanie P. ; Wahl, Colleen E. ; Wangler, Michael F. ; Waters, Katrina M. ; Westerfield, Monte ; Wise, Anastasia L. ; Yang, John ; Yang, Yaping ; Yoon, Amanda J. ; Zastrow, Diane B. ; Zhao, Chunli ; Offiah, Amaka C. ; Carey, John C. ; Bacino, Carlos A. ; Campeau, Philippe M. ; Lee, Brendan

American journal of human genetics, 2019-03, Vol.104 (3), p.422-438 [Periódico revisado por pares]

United States: Elsevier Inc

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6
Presence of Large Deletions in Kindreds with Autism
Presence of Large Deletions in Kindreds with Autism
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Presence of Large Deletions in Kindreds with Autism

Yu, Chang-En ; Dawson, Geraldine ; Munson, Jeffrey ; D’Souza, Ian ; Osterling, Julie ; Estes, Annette ; Leutenegger, Anne-Louise ; Flodman, Pamela ; Smith, Moyra ; Raskind, Wendy H. ; Spence, M. Anne ; McMahon, William ; Wijsman, Ellen M. ; Schellenberg, Gerard D.

American journal of human genetics, 2002-07, Vol.71 (1), p.100-115 [Periódico revisado por pares]

Chicago, IL: Elsevier Inc

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