Hasil Pencarian - David R Adams
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On Pacard's regularity for the equation $-Delta u = u^p$ oleh David R. Adams
Diterbitkan 2012-08-01
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Retrospective analysis in oculocutaneous albinism patients for the 2.7 kb deletion in the OCA2 gene revealed a co-segregation of the controversial variant, p.R305W oleh Jackson Gao, Leera D’Souza, Keith Wetherby, Christian Antolik, Melissa Reeves, David R. Adams, Santa Tumminia, Xinjing Wang
Diterbitkan 2017-04-01
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The Undiagnosed Diseases Program Integrated Collaboration System (UDPICS): One Program’s Experience Developing Custom Software to Support Research for Complex-Disease Families oleh Jessica Guzman, Elizabeth Lee, David Draper, Zaheer Valivullah, Guoyun Yu, Murat Sincan, William A. Gahl, David R. Adams
Diterbitkan 2015-07-01
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Novel Anti-Infective Compounds from Marine Bacteria oleh Hafizur Rahman, Brian Austin, Wilfrid J. Mitchell, Peter C. Morris, Derek J. Jamieson, David R. Adams, Andrew Mearns Spragg, Michael Schweizer
Diterbitkan 2010-03-01
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A Novel Selective Sphingosine Kinase 2 Inhibitor, HWG-35D, Ameliorates the Severity of Imiquimod-Induced Psoriasis Model by Blocking Th17 Differentiation of Naïve CD4 T Lymphocytes... oleh Sun-Hye Shin, Hee-Yeon Kim, Hee-Soo Yoon, Woo-Jae Park, David R. Adams, Nigel J. Pyne, Susan Pyne, Joo-Won Park
Diterbitkan 2020-11-01
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DYRK1A pathogenic variants in two patients with syndromic intellectual disability and a review of the literature oleh Laura E. Meissner, Ellen F. Macnamara, Precilla D'Souza, John Yang, Gilbert Vezina, Undiagnosed Diseases Network, Carlos R. Ferreira, Wadih M. Zein, Cynthia J. Tifft, David R. Adams
Diterbitkan 2020-12-01
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LUSTR: a new customizable tool for calling genome-wide germline and somatic short tandem repeat variants oleh Jinfeng Lu, Camilo Toro, David R. Adams, Undiagnosed Diseases Network, Cristiane Araujo Martins Moreno, Wan-Ping Lee, Yuk Yee Leung, Mathew B. Harms, Badri Vardarajan, Erin L. Heinzen
Diterbitkan 2024-01-01
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Hermansky-Pudlak syndrome and oculocutaneous albinism in Chinese children with pigmentation defects and easy bruising oleh Bradley Power, Carlos R. Ferreira, Dong Chen, Wadih M. Zein, Kevin J. O’Brien, Wendy J. Introne, Joshi Stephen, William A. Gahl, Marjan Huizing, May Christine V. Malicdan, David R. Adams, Bernadette R. Gochuico
Diterbitkan 2019-02-01
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Biallelic HEPHL1 variants impair ferroxidase activity and cause an abnormal hair phenotype. oleh Prashant Sharma, Marie Reichert, Yan Lu, Thomas C Markello, David R Adams, Peter J Steinbach, Brie K Fuqua, Xenia Parisi, Stephen G Kaler, Christopher D Vulpe, Gregory J Anderson, William A Gahl, May Christine V Malicdan
Diterbitkan 2019-05-01
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FOXR1 regulates stress response pathways and is necessary for proper brain development. oleh Andressa Mota, Hannah K Waxman, Rui Hong, Gavin D Lagani, Sheng-Yong Niu, Féodora L Bertherat, Lynne Wolfe, Christine May Malicdan, Thomas C Markello, David R Adams, William A Gahl, Christine S Cheng, Uwe Beffert, Angela Ho
Diterbitkan 2021-11-01
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FOXR1 regulates stress response pathways and is necessary for proper brain development oleh Andressa Mota, Hannah K. Waxman, Rui Hong, Gavin D. Lagani, Sheng-Yong Niu, Féodora L. Bertherat, Lynne Wolfe, Christine May Malicdan, Thomas C. Markello, David R. Adams, William A. Gahl, Christine S. Cheng, Uwe Beffert, Angela Ho
Diterbitkan 2021-11-01
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Cellular and molecular defects in a patient with Hermansky-Pudlak syndrome type 5. oleh Joshi Stephen, Tadafumi Yokoyama, Nathanial J Tolman, Kevin J O'Brien, Elena-Raluca Nicoli, Brian P Brooks, Laryssa Huryn, Steven A Titus, David R Adams, Dong Chen, William A Gahl, Bernadette R Gochuico, May Christine V Malicdan
Diterbitkan 2017-01-01
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Deficiency in the endocytic adaptor proteins PHETA1/2 impairs renal and craniofacial development oleh Kristin M. Ates, Tong Wang, Trevor Moreland, Rajalakshmi Veeranan-Karmegam, Manxiu Ma, Chelsi Jeter, Priya Anand, Wolfgang Wenzel, Hyung-Goo Kim, Lynne A. Wolfe, Joshi Stephen, David R. Adams, Thomas Markello, Cynthia J. Tifft, Robert Settlage, William A. Gahl, Graydon B. Gonsalvez, May Christine Malicdan, Heather Flanagan-Steet, Y. Albert Pan
Diterbitkan 2020-05-01
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Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment oleh Marie Morimoto, Vikas Bhambhani, Nour Gazzaz, Mariska Davids, Paalini Sathiyaseelan, Ellen F. Macnamara, Jennifer Lange, Anna Lehman, Patricia M. Zerfas, Jennifer L. Murphy, Maria T. Acosta, Camille Wang, Emily Alderman, Undiagnosed Diseases Network, Sara Reichert, Audrey Thurm, David R. Adams, Wendy J. Introne, Sharon M. Gorski, Cornelius F. Boerkoel, William A. Gahl, Cynthia J. Tifft, May Christine V. Malicdan
Diterbitkan 2023-02-01
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yippee like 3 (ypel3) is a novel gene required for myelinating and perineurial glia development. oleh Bernardo Blanco-Sánchez, Aurélie Clément, Sara J Stednitz, Jennifer Kyle, Judy L Peirce, Marcie McFadden, Jeremy Wegner, Jennifer B Phillips, Ellen Macnamara, Yan Huang, David R Adams, Camilo Toro, William A Gahl, May Christine V Malicdan, Cynthia J Tifft, Erika M Zink, Kent J Bloodsworth, Kelly G Stratton, Undiagnosed Diseases Network, David M Koeller, Thomas O Metz, Philip Washbourne, Monte Westerfield
Diterbitkan 2020-06-01
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Investigating Determinants and Evaluating Deep Learning Training Approaches for Visual Acuity in Foveal Hypoplasia oleh Volha V. Malechka, MD, Dat Duong, PhD, Keyla D. Bordonada, MD, Amy Turriff, MS, Delphine Blain, MS, MBA, Elizabeth Murphy, PhD, Wendy J. Introne, MD, Bernadette R. Gochuico, MD, David R. Adams, MD, PhD, Wadih M. Zein, MD, Brian P. Brooks, MD, PhD, Laryssa A. Huryn, MD, Benjamin D. Solomon, MD, Robert B. Hufnagel, MD, PhD
Diterbitkan 2023-03-01
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