Results 111 to 120 of about 377,586 (304)

The 9th International RASopathies Symposium

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The RASopathies are a group of congenital disorders with overlapping clinical manifestations that are caused by pathogenic germline or early somatic variants that result in the hyperactivation of the RAS/mitogen‐activated protein kinase (MAPK) signaling pathway.
Pau Castel, Lisa Schoyer, Beth Stronach, Raya Bogdanova, Anton M. Bennett, Jaishri Blakeley, Miriam Bornhorst, Tammy Bowers, Saskia M. Brachmann, Emma Burkitt‐Wright, Kathryn Chatfield, Alessandro De Luca, Khalil El‐Chammas, Abdul Elkadri, John E. Fortunato, Bruce D. Gelb, Anne Goriely, Karen Gripp, Kassidy Grover, Lindsay Homan, Kenneth A. Kern, Maija Kiuru, Charles (Chuck) Lawson, Yong‐Seok Lee, Frank McCormick, Gina Ney, Cristina Nuevo‐Tapioles, Sara Pardej, Elizabeth I. Pierpont, Julia Plank, Nancy Ratner, Katherine A. Rauen, J. Elliott Robinson, Les Rogers, Sarah E. Sheppard, Keir Shiels, David Stevenson, Dagmar Tiemens, Matthew Traylor, K. Nicole Weaver, Marielle Yohe, Tamar Green   +41 more
wiley   +1 more source

Exploring Cultural Identity Through Literature

WOW Stories, 2013
Janine M. Schall
doaj  

Improving Outcome Reporting in Paediatric Airway Management in Clinical Trials (IMPACT): A Study Protocol for Core Outcomes and Clinical Endpoints. [PDF]

Acta Anaesthesiol Scand
Matava CT, Olsen JM, Marchesini V, Engelhardt T, Fuchs A, Riva T, Wolter NE, von Ungern-Sternberg BS, Stein ML, Disma N, Gray RM, Navaratnarajah JB, Quintão VC, Olomu PN, Kleine-Brueggeney M, Garcia-Marcinkiewicz A, Kojima T, Becke-Jakob K, Fiadjoe JE, Afshari A, Kovatsis PG.   +20 more
europepmc   +1 more source

Lymphatic Abnormalities in Noonan Syndrome Extend Beyond Clinically Apparent Disease

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Lymphatic disease represents a well‐described manifestation of Noonan syndrome (NS), yet the full phenotypic spectrum remains incompletely characterized, especially in asymptomatic individuals. We conducted a cross‐sectional study including 10 individuals with NS (four with peripheral lymphedema and six without) and 10 age‐ and sex‐matched ...
Inger Norlyk Sheyanth, Benjamin Kelly, Sheyanth Mohanakumar, Steffen Ringgaard, Yoav Dori, Irene Kibæk Nielsen, Uffe Birk Jensen, Vibeke Elisabeth Hjortdal   +7 more
wiley   +1 more source

Introduction: Literature as a Means to Facilitate Personal Response and Inquiry

WOW Stories, 2008
Janine Schall
doaj  

Measuring Environmental Noise for Babies in Special Care Nurseries and Neonatal Intensive Care Units on a Large Scale: Research Methods. [PDF]

Health Sci Rep
Potter L, Gasparini L, Ertan C, Sung V, Wang J, Wake M.   +5 more
europepmc   +1 more source

High‐Resolution Genomic Characterization of WAGR Spectrum Disorder: Insights From a Novel Cohort and Literature Synthesis, and Validation of Patient‐Reported Data

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT WAGR spectrum disorder (WAGRSD) is an ultra‐rare congenital disorder caused by heterozygous deletion of chromosome 11p13. While classically associated with Wilms tumor, Aniridia, Genitourinary anomalies, and a Range of developmental delays, accurate delineation of the deletion is critical for prognosis because the phenotypic spectrum extends ...
Andrew M. George, Bamelak T. Duki, Zoe S. Katz, Aravind Viswanathan, Suzanne P. MacFarland, Evan R. Hathaway, Caitlin Monahan, John Morris, Kelly L. Trout, Shari M. Krantz, Arupa Ganguly, Jennifer M. Kalish   +11 more
wiley   +1 more source

Introduction: Creating Connections with Latino Texts

WOW Stories, 2008
Janine Schall
doaj  

International Congenital Central Hypoventilation Syndrome (CCHS) Registry: Analysis of Patient-Reported Symptoms by PHOX2B Variant. [PDF]

Pediatr Pulmonol
Vandemore DR, Lonergan EK, Rand CM, Weese-Mayer DE.   +3 more
europepmc   +1 more source

Toilets unblocked : A literature review of school toilets [PDF]

, 2013
Burton, Sarah
core