Zobrazeno 1 - 10
of 112
pro vyhledávání: '"Richard Haas"'
Autor:
Paige Heiman, Al-Walid Mohsen, Anuradha Karunanidhi, Claudette St Croix, Simon Watkins, Erik Koppes, Richard Haas, Jerry Vockley, Lina Ghaloul-Gonzalez
Publikováno v:
Scientific Reports, Vol 12, Iss 1, Pp 1-11 (2022)
Abstract Transport and Golgi Organization protein 2 Homolog (TANGO2)-related disease is an autosomal recessive disorder caused by mutations in the TANGO2 gene. Symptoms typically manifest in early childhood and include developmental delay, stress-ind
Externí odkaz:
https://doaj.org/article/bbd84a9f628544dc9e3cb0595985fc6f
Autor:
Evdokia Angelidis, Arthur Beisang, Timothy Benke, Daniel Glaze, Richard Haas, Peter Heydemann, Mary Jones, Jane Lane, David Lieberman, Eric Marsh, Jeffrey Neul, Sarika Peters, Robin Ryther, Steven Skinner, Shannon Standridge, Walter Kaufmann, Alan Percy, Caroline Buchanan
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100134- (2023)
Externí odkaz:
https://doaj.org/article/0b1ad74a6ae24261aa773689f619b32c
Autor:
Xiaolan Fang, Kameryn M. Butler, Fatima Abidi, Jennifer Gass, Arthur Beisang, Timothy Feyma, Robin C. Ryther, Shannon Standridge, Peter Heydemann, Mary Jones, Richard Haas, David N Lieberman, Eric D. Marsh, Tim A. Benke, Steve Skinner, Jeffrey L. Neul, Alan K. Percy, Michael J. Friez, Raymond C. Caylor
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 10, Iss 5, Pp n/a-n/a (2022)
Abstract Background Rett syndrome (RTT) is a rare neurodevelopmental disorder associated with pathogenic MECP2 variants. Because the MECP2 gene is subject to X‐chromosome inactivation (XCI), factors including MECP2 genotypic variation, tissue diffe
Externí odkaz:
https://doaj.org/article/996c3d61b19843d580a58e638b94cc77
Publikováno v:
Journal of Cachexia, Sarcopenia and Muscle, Vol 11, Iss 4, Pp 909-918 (2020)
Abstract Background This study aims to evaluate the effect of subcutaneous (SC) elamipretide dosing on exercise performance using the 6 min walk test (6MWT), patient‐reported outcomes measuring fatigue, functional assessments, and safety to guide t
Externí odkaz:
https://doaj.org/article/4e3c7d9d0ebc4d80bc122ad1421fdd2d
Autor:
Jennifer Friedman, Lynne M. Bird, Richard Haas, Shira L. Robbins, Shareef A. Nahas, David P. Dimmock, Matthew J. Yousefzadeh, Mariah A. Witt, Laura J. Niedernhofer, Shimul Chowdhury
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 9, Iss 7, Pp n/a-n/a (2021)
ABSTRACT Background Cockayne syndrome (CS) is a rare autosomal recessive disorder characterized by growth failure and multisystemic degeneration. Excision repair cross‐complementation group 6 (ERCC6 OMIM: *609413) is the gene most frequently mutate
Externí odkaz:
https://doaj.org/article/8adc526922e441619f5e782f3745aa77
Publikováno v:
Case Reports in Endocrinology, Vol 2018 (2018)
Pheochromocytomas are rare tumors that arise from the adrenal medulla, with an incidence of less than 1 per 100,000 person-years. These tumors are characterized by excess catecholamine secretion and classically present with the triad of headaches, pa
Externí odkaz:
https://doaj.org/article/eff2fc2b05794c49bc8dc43cd0dfd7aa
Autor:
Zhe Zhang, Mai Tsukikawa, Min Peng, Erzsebet Polyak, Eiko Nakamaru-Ogiso, Julian Ostrovsky, Shana McCormack, Emily Place, Colleen Clarke, Gail Reiner, Elizabeth McCormick, Eric Rappaport, Richard Haas, Joseph A Baur, Marni J Falk
Publikováno v:
PLoS ONE, Vol 8, Iss 7, p e69282 (2013)
Primary mitochondrial respiratory chain (RC) diseases are heterogeneous in etiology and manifestations but collectively impair cellular energy metabolism. Mechanism(s) by which RC dysfunction causes global cellular sequelae are poorly understood. To
Externí odkaz:
https://doaj.org/article/c2e03b712d594c12b237fdd41b0d9428
Mother-infant bonding and breastfeeding in neonates with hypoxic ischemic encephalopathy or seizures
Autor:
Cynthia Sharpe, Peter Reed, Tania Borja, Sonya Wang, Maynard Rassmussen, Lilly Lee, Richard Haas, Gail Reiner
Mother-infant bonding and breastfeeding are critical factors in the long-term outcomes of neonates. This is a first-of-its-kind exploratory study that reports the maternal bonding status and provision of breastmilk for families whose infants suffered
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5603169764199cdb4ca6fc08115cc28f
https://doi.org/10.21203/rs.3.rs-2269922/v1
https://doi.org/10.21203/rs.3.rs-2269922/v1
Autor:
Valentina Emmanuele, Jaya Ganesh, Georgirene Vladutiu, Richard Haas, Douglas Kerr, Russell P. Saneto, Bruce H. Cohen, Johan Van Hove, Fernando Scaglia, Charles Hoppel, Xiomara Q. Rosales, Emanuele Barca, Richard Buchsbaum, John L. Thompson, Salvatore DiMauro, Michio Hirano
Publikováno v:
Mol Genet Metab
OBJECTIVE: To harmonize terminology in mitochondrial medicine, we propose revised clinical criteria for primary mitochondrial syndromes. METHODS: The North American Mitochondrial Disease Consortium (NAMDC) established a Diagnostic Criteria Committee
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e71d657fc56a25cafc54472d437d7d19
https://europepmc.org/articles/PMC9341219/
https://europepmc.org/articles/PMC9341219/
Publikováno v:
Journal of Composite Materials. 55:3293-3305
In this work, the reinforcement efficiency of concrete composites prestressed with glass and carbon rovings was studied. Prestressed concrete composites samples were prepared at a prestress level one-third the maximum tensile strength of the roving.