खोज परिणाम - Laryssa A. Huryn
- प्रदर्शित 1 - 7 परिणाम 7
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1
Single-cell–resolution map of human retinal pigment epithelium helps discover subpopulations with differential disease sensitivity द्वारा Davide Ortolan, Ruchi Sharma, A. I. Volkov, Arvydas Maminishkis, Nathan Hotaling, Laryssa A. Huryn, Catherine A. Cukras, Stefano Di Marco, Silvia Bisti, Kapil Bharti
प्रकाशित 2022Artigo -
2
Integrating adaptive optics-SLO and OCT for multimodal visualization of the human retinal pigment epithelial mosaic द्वारा Andrew J. Bower, Tao Liu, Nancy Aguilera, Joanne Li, Jianfei Liu, Rongwen Lu, John Giannini, Laryssa A. Huryn, Alfredo Dubra, Zhuolin Liu, Daniel X. Hammer, Johnny Tam
प्रकाशित 2021Artigo -
3
Antisense oligonucleotides targeting mutant Ataxin-7 restore visual function in a mouse model of spinocerebellar ataxia type 7 द्वारा Chenchen Niu, Thazah P. Prakash, Aneeza Kim, John Quach, Laryssa A. Huryn, Yuechen Yang, Edith Lopez, Ali Jazayeri, Gene Hung, Bryce L. Sopher, Brian P. Brooks, Eric E. Swayze, C. Frank Bennett, Albert R. La Spada
प्रकाशित 2018Artigo -
4
GM1 gangliosidosis type II: Results of a 10-year prospective study द्वारा Precilla D’Souza, Cristan Farmer, Jean M. Johnston, Sangwoo T. Han, David H. Adams, Adam L. Hartman, Wadih M. Zein, Laryssa A. Huryn, Beth Solomon, Kelly King, Christopher P. Jordan, Jennifer Myles, Elena‐Raluca Nicoli, Caroline E Rothermel, Yoliann Mojica Algarin, Reyna Huang, Rachel Quimby, Mosufa Zainab, S. Bowden, Anna Crowell, Ashura Buckley, Carmen C. Brewer, Debra S. Regier, Brian P. Brooks, Maria T. Acosta, Eva H. Baker, Gilbert Vézina, Audrey Thurm, Cynthia J. Tifft
प्रकाशित 2024Artigo -
5
Variants in myelin regulatory factor (MYRF) cause autosomal dominant and syndromic nanophthalmos in humans and retinal degeneration in mice द्वारा Sarah J. Garnai, Michelle L. Brinkmeier, Ben Emery, Tomas S. Alemán, Louise C. Pyle, Biliana O. Veleva-Rotse, Robert A. Sisk, Frank W. Rozsa, Ayse Bilge Ozel, Jun Z. Li, Sayoko E. Moroi, Steven M. Archer, Cheng‐mao Lin, Sarah Sheskey, Laurel Wiinikka-Buesser, James A. Eadie, Jill Urquhart, Graeme Black, Mohammad Othman, Michael Boehnke, Scot A. Sullivan, Gregory L. Skuta, Hemant Pawar, Alexander Katz, Laryssa A. Huryn, Robert B. Hufnagel, Sally A. Camper, Julia E. Richards, Lev Prasov
प्रकाशित 2019Artigo -
6
Defining the clinical phenotype of Saul–Wilson syndrome द्वारा Carlos R. Ferreira, Wadih M. Zein, Laryssa A. Huryn, Andrea Merker, Seth Berger, William G. Wilson, George E. Tiller, Lynne A. Wolfe, Melissa A. Merideth, Daniel R. Carvalho, Angela L. Duker, Heiko Bratke, Marte G. Haug, Luis Rohena, Hanne Hove, Zhi‐Jie Xia, Bobby G. Ng, Hudson H. Freeze, Melissa Gabriel, Alvaro H. Serrano Russi, Lauren Brick, Mariya Kozenko, Dawn Earl, Emma Tham, Gen Nishimura, John A. Phillips, William A. Gahl, Rizwan Hamid, Andrew P. Jackson, Giedre Grigelioniené, Michael B. Bober
प्रकाशित 2020Artigo -
7
Gain-of-function mutations in<i>ALPK1</i>cause an NF-κB-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of patients with ROSAH syn... द्वारा Christina Torres Kozycki, Shilpa Kodati, Laryssa A. Huryn, Hongying Wang, Blake M. Warner, Priyam Jani, Dima A. Hammoud, Mones Abu‐Asab, Yingyos Jittayasothorn, Mary J. Mattapallil, Wanxia Li Tsai, Ehsan Ullah, Ping‐Kun Zhou, Xiaoying Tian, Ariane Soldatos, Niki M. Moutsopoulos, Marie Kao-Hsieh, Theo Heller, Edward W. Cowen, Chyi‐Chia Richard Lee, Camilo Toro, Shelley S. Kalsi, Zohreh Khavandgar, Alan N. Baer, Margaret Beach, Debra Long Priel, Michele Nehrebecky, Sofia Rosenzweig, Tina Romeo, Natalie Deuitch, Laurie Brenchley, Eileen Pelayo, Wadih M. Zein, Nida Sen, Alexander H. Yang, Gary L. Farley, David A. Sweetser, Lauren C. Briere, Janine Yang, Fabiano de Oliveira Poswar, Ida Vanessa Döederlein Schwartz, Tamires Silva Alves, Perrine Dusser, Isabelle Koné‐Paut, Isabelle Touitou, Salah Mohamed Titah, P. Martin van Hagen, Rogier T. A. van Wijck, Peter J. van der Spek, Hiromi YANO, Andreas Benneche, Ellen M. Apalset, Ragnhild Wivestad Jansson, Rachel R Caspi, Douglas B. Kuhns, Massimo Gadina, Hidetoshi Takada, Hiroaki Ida, Ryuta Nishikomori, Elena Verrecchia, Eugenio Sangiorgi, Raffaele Manna, Brian P. Brooks, Lucia Sobrin, Robert B. Hufnagel, David B. Beck, Feng Shao, Amanda K. Ombrello, Ivona Aksentijevich, Daniel L. Kastner
प्रकाशित 2022Artigo
खोज साधन:
संबंधित विषय
Biology
Genetics
Medicine
Disease
Gene
Retinal
Biochemistry
Cell biology
Internal medicine
Neuroscience
Pediatrics
Retinal pigment epithelium
Adaptive optics
Adult-onset Still's disease
Artificial intelligence
Ataxia
Bioinformatics
Biomedical engineering
Body mass index
Cell
Cell type
Choroideremia
Cohort
Computer science
Contrast (vision)
Enzyme replacement therapy
Etiology
Exon
Frameshift mutation
Function (biology)