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Autor:
Elizabeth Forsythe, Usha G. Mallya, Min Yang, Caroline Huber, Mary Lynn Cala, Alexandra Greatsinger, Ella Hagopian, Jeremy Pomeroy, Andrea M. Haqq
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-12 (2023)
Abstract Background Bardet-Biedl syndrome (BBS) is a rare, genetically heterogeneous obesity syndrome associated with hyperphagia. Given the early onset of BBS symptoms in childhood and multifaceted complications, this study aimed to quantify the car
Externí odkaz:
https://doaj.org/article/13858c5d51db43c5b28162d8281e35cc
Autor:
Elizabeth Forsythe, Usha G. Mallya, Min Yang, Caroline Huber, Mary Lynn Cala, Alexandra Greatsinger, Ella Hagopian, Jeremy Pomeroy, Andrea M. Haqq
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-10 (2023)
Abstract Background Signs and symptoms of Bardet–Biedl syndrome (BBS) occur during early childhood, progress over time, and place substantial, multifaceted burden on patients and their caregivers. Hyperphagia may be a contributing factor to early-o
Externí odkaz:
https://doaj.org/article/b0b9f9b20aad497f8d8c3b210f153398
Autor:
Ed.D. Tatiana Solovieva
Publikováno v:
Journal of Education and Culture Studies. 4:p122
The book seems to ultimately discuss the concept of meaning of life. This novel chiefly concentrates on a life of only one woman, but what a wonderful example for discussions of many significant questions in a woman’s life! It is written in persona
Autor:
Elizabeth Forsythe, Robert M. Haws, Jesús Argente, Philip Beales, Gabriel Á. Martos-Moreno, Hélène Dollfus, Costel Chirila, Ari Gnanasakthy, Brieana C. Buckley, Usha G. Mallya, Karine Clément, Andrea M. Haqq
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-10 (2023)
Abstract Background Bardet–Biedl syndrome is a rare genetic disease associated with hyperphagia and early-onset, severe obesity. There is limited evidence on how hyperphagia and obesity affect health-related quality of life in patients with Bardet
Externí odkaz:
https://doaj.org/article/95baf4bee81746aaaf9b8a040bb3a09a
Autor:
Ruth Skrine
Publikováno v:
BMJ (Clinical research ed.). 354
Autor:
Thompson, Joyce
Publikováno v:
Texas Women Writers; 1997, p143-147, 5p
Publikováno v:
Community Health, 1976 Oct 01. 8(2), 119-119.
Externí odkaz:
https://www.jstor.org/stable/45159857
Publikováno v:
EBioMedicine, Vol 70, Iss , Pp 103515- (2021)
Background: Ciliary dysfunction underlies a range of genetic disorders collectively termed ciliopathies, for which there are no treatments available. Bardet-Biedl syndrome (BBS) is characterised by multisystemic involvement, including rod-cone dystro
Externí odkaz:
https://doaj.org/article/17b83887edb04500b767d0d8aaafffeb
Autor:
Andrea M, Haqq, Wendy K, Chung, Hélène, Dollfus, Robert M, Haws, Gabriel Á, Martos-Moreno, Christine, Poitou, Jack A, Yanovski, Robert S, Mittleman, Guojun, Yuan, Elizabeth, Forsythe, Karine, Clément, Jesús, Argente
Publikováno v:
The Lancet Diabetes & Endocrinology. 10:859-868
Impaired cilial signalling in the melanocortin-4 receptor (MC4R) pathway might contribute to obesity in patients with Bardet-Biedl syndrome and Alström syndrome, rare genetic diseases associated with hyperphagia and early-onset severe obesity. We ai