Results 161 to 170 of about 549,497 (314)

Signaling architecture of the glucagon-like peptide-1 receptor. [PDF]

J Clin Invest
Austin G, Tomas A.
europepmc   +1 more source

Growth Standards for Children With Smith–Magenis Syndrome (SMS)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Smith–Magenis syndrome (SMS, OMIM 182290) is a complex syndromic diagnosis marked by neurobehavioral differences and distinct facial dysmorphisms, caused by haploinsufficiency of the retinoic acid‐1 (RAI1) gene either by a pathogenic sequence variant or deletion at chromosome 17p11.2 involving a portion or all of this gene.
Julie Hoover‐Fong, John McGready, Leah Fleming, Kerry Schulze, Folami Duncan, Alexis Leonard, Marie Christine de Blois Boucard, Danilo Moretti‐Ferreira, Andrea L. Gropman, Wendy J. Introne, Ann C. M. Smith   +10 more
wiley   +1 more source

Supporting self-reliance for displaced and host populations: insights from the Self-Reliance Index across 16 countries. [PDF]

BMJ Glob Health
Stark L, Jorgenson Diener K, Leeson K, Singh S, Meerdink N, Seff I.   +5 more
europepmc   +1 more source

Rüdin's Unpublished Family Study From the Early 1920s: “On the Inheritance of Manic‐Depressive Insanity”

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Ernst Rüdin, an important and controversial figure in the history of psychiatric genetics, published only one major empirical study on siblings of dementia praecox (DP) probands in 1916. He conducted a parallel study of siblings of probands with manic‐depressive insanity (MDI), but the resulting monograph, written in the early 1920s, was left ...
Kenneth S. Kendler, Astrid Klee
wiley   +1 more source

Un brillo concheperla. Teoría queer y literatura latinoamericana, de José Amícola

Anclajes, 2022
Camila Roccatagliata
doaj  

Transmembrane Transport of cAMP and AMP Using a Two Component Small Molecule Transport System. [PDF]

Angew Chem Int Ed Engl
Rathnaweera UMC, Sam O, Norvaisa K, Marshall SR, Weerakonda Arachchige RDS, Chvojka M, Valkenier H, Busschaert N.   +7 more
europepmc   +1 more source

Strategies targeting cAMP signaling in the treatment of polycystic kidney disease.

Journal of the American Society of Nephrology, 2014
V. Torres, P. Harris
semanticscholar   +1 more source

Integration of cAMP and TRPV4 Signaling to Optimize Collagen Remodeling for Management of Fibrosis. [PDF]

Cells
Di Raimo C, McCulloch C.
europepmc   +1 more source

KDM2B‐Related Neurodevelopmental Disorder A Case‐Series Supporting the CxxC Domain Phenotype With Emphasis on Ocular and Dermatologic Features

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The KDM2B‐related neurodevelopmental disorder is a recently identified Mendelian disorder of the epigenetic machinery associated with pathogenic variants in KDM2B. Global developmental delay, intellectual disability, congenital anomalies, and systemic manifestations characterize the disorder.
Adriana Gomes, Álvaro Martín‐Rodríguez, Miguel Del Campo, Lynne M. Bird   +3 more
wiley   +1 more source

Associations between refugee camp living and duration lived in refugee camps with health outcomes: A cross-sectional analysis of the Annual Survey of Refugees, 2021-2022. [PDF]

PLoS One
Thapa K, Sabbah L, AlHeresh R, Saadi A.
europepmc   +1 more source