Zobrazeno 1 - 10
of 170
pro vyhledávání: '"Sarah P, Young"'
Autor:
Insa Mannstadt, Susan M. Goodman, Mangala Rajan, Sarah R. Young, Fei Wang, Iris Navarro‐Millán, Bella Mehta
Publikováno v:
ACR Open Rheumatology, Vol 6, Iss 6, Pp 375-379 (2024)
Objective Mixed‐methods research is valuable in health care to gain insights into patient perceptions. However, analyzing textual data from interviews can be time‐consuming and require multiple analysts for investigator triangulation. This study
Externí odkaz:
https://doaj.org/article/f79ad7e49c6a4c67a9fafbcac9f1af2a
Whole exome sequencing reveals a dual diagnosis of BCAP31-related syndrome and glutaric aciduria III
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 40, Iss , Pp 101117- (2024)
Background: Biochemical testing is a common first-tier approach in the setting of genetic evaluation of patients with unexplained developmental delay. However, results can be unclear, and a plan for second-tier analysis must be determined based on th
Externí odkaz:
https://doaj.org/article/5b06a9ca26644f6a8fa8d70ac35fb95b
Autor:
Nicholas J. Shields, Estelle M. Peyroux, Angela L. Ferguson, Megan Steain, Silke Neumann, Sarah L. Young
Publikováno v:
Frontiers in Immunology, Vol 15 (2024)
Externí odkaz:
https://doaj.org/article/40c9f9365f9c40efb8d32419af6af5f0
Autor:
Gisele Nishiguchi, Lauren G. Mascibroda, Sarah M. Young, Elizabeth A. Caine, Sherif Abdelhamed, Jeffrey J. Kooijman, Darcie J. Miller, Sourav Das, Kevin McGowan, Anand Mayasundari, Zhe Shi, Juan M. Barajas, Ryan Hiltenbrand, Anup Aggarwal, Yunchao Chang, Vibhor Mishra, Shilpa Narina, Melvin Thomas, Allister J. Loughran, Ravi Kalathur, Kaiwen Yu, Suiping Zhou, Xusheng Wang, Anthony A. High, Junmin Peng, Shondra M. Pruett-Miller, Danette L. Daniels, Marjeta Urh, Anang A. Shelat, Charles G. Mullighan, Kristin M. Riching, Guido J. R. Zaman, Marcus Fischer, Jeffery M. Klco, Zoran Rankovic
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-17 (2024)
Abstract Molecular-glue degraders are small molecules that induce a specific interaction between an E3 ligase and a target protein, resulting in the target proteolysis. The discovery of molecular glue degraders currently relies mostly on screening ap
Externí odkaz:
https://doaj.org/article/93a742dfa7284effac1e877a18d0d84e
Autor:
Susan M. Goodman, Insa Mannstadt, J. Alex B. Gibbons, Mangala Rajan, Anne Bass, Linda Russell, Bella Mehta, Mark Figgie, Michael L. Parks, Shilpa Venkatachalam, W. Benjamin Nowell, Collin Brantner, Geyanne Lui, Andrea Card, Peggy Leung, Henry Tischler, Sarah R. Young, Iris Navarro-Millán
Publikováno v:
BMC Musculoskeletal Disorders, Vol 24, Iss 1, Pp 1-11 (2023)
Abstract Objective Racial and ethnic disparities in arthroplasty utilization are evident, but the reasons are not known. We aimed to identify concerns that may contribute to barriers to arthroplasty from the patient’s perspective. Methods We identi
Externí odkaz:
https://doaj.org/article/fac1f66c11824723b4259b5fd4e61c17
Publikováno v:
BMJ Open, Vol 14, Iss 3 (2024)
Objective To identify and describe evidence on brief emergency department (ED)-delivered behavioural and care process interventions among patients presenting with suicide attempt or acute ideation, substance overdose or psychosis.Design We employed a
Externí odkaz:
https://doaj.org/article/e61631ef431148e987ec0a421daab8e8
Autor:
Monika Williams, Iskren Menkovic, Pamela Reitnauer, Eileen Gilbert, Dwight Koeberl, Sarah P. Young, Ashlee R. Stiles
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 38, Iss , Pp 101062- (2024)
Mitochondrial 3-hydroxy-3-methylglutaryl-CoA (HMG-CoA) synthase (mHS) deficiency is an autosomal recessive disorder of ketone body synthesis caused by biallelic pathogenic variants in HMGCS2. Clinical symptoms are precipitated by prolonged fasting an
Externí odkaz:
https://doaj.org/article/9318d626e74e4516b096a145643dc2c0
Autor:
Pascale Tuyaa-Boustugue, Ingrid Jantzen, Haoyue Zhang, Sarah P. Young, Pierre Broqua, Mireille Tallandier, Eugeni Entchev
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 37, Iss , Pp 101011- (2023)
Deficiencies of lysosomal enzymes responsible for the degradation of glycosaminoglycans (GAG) cause pathologies commonly known as the mucopolysaccharidoses (MPS). Each type of MPS is caused by a deficiency in a specific GAG-degrading enzyme and is ch
Externí odkaz:
https://doaj.org/article/39015b4be7194098910689d76cf2f4c1
Autor:
Brian J. Conway, Léon Taquet, Timothy F. Boerger, Sarah C. Young, Kate B. Krucoff, Brian D. Schmit, Max O. Krucoff
Publikováno v:
Journal of NeuroEngineering and Rehabilitation, Vol 20, Iss 1, Pp 1-16 (2023)
Abstract Background In clinical and research settings, hand dexterity is often assessed as finger individuation, or the ability to move one finger at a time. Despite its clinical importance, there is currently no standardized, sufficiently sensitive,
Externí odkaz:
https://doaj.org/article/176cbf1b258e4b0898f3c13c4830205c
Autor:
Rauf Salamzade, Abigail L. Manson, Bruce J. Walker, Thea Brennan-Krohn, Colin J. Worby, Peijun Ma, Lorrie L. He, Terrance P. Shea, James Qu, Sinéad B. Chapman, Whitney Howe, Sarah K. Young, Jenna I. Wurster, Mary L. Delaney, Sanjat Kanjilal, Andrew B. Onderdonk, Cassiana E. Bittencourt, Gabrielle M. Gussin, Diane Kim, Ellena M. Peterson, Mary Jane Ferraro, David C. Hooper, Erica S. Shenoy, Christina A. Cuomo, Lisa A. Cosimi, Susan S. Huang, James E. Kirby, Virginia M. Pierce, Roby P. Bhattacharyya, Ashlee M. Earl
Publikováno v:
Genome Medicine, Vol 14, Iss 1, Pp 1-22 (2022)
Abstract Background Carbapenem-resistant Enterobacterales (CRE) are an urgent global health threat. Inferring the dynamics of local CRE dissemination is currently limited by our inability to confidently trace the spread of resistance determinants to
Externí odkaz:
https://doaj.org/article/57dc460746d040e3850323d8b6411193