Results 41 to 50 of about 11,312 (165)
Crouzon’s syndrome with adenotonsillitis: conventional surgery in altered anatomy. [PDF]
, 2013 Background/Objectives: Crouzon’s syndrome is characterized by premature closure of the cranial sutures, midface hypoplasia, orbital deformities & other associated abnormalities.Children with Crouzon syndrome frequently have obstructive sleep apnea ...
Appaji, Mohan +6 more
core +2 more sources
Clinical Pharmacology &Therapeutics, Volume 117, Issue 4, Page 910-919, April 2025.Recent discussions about the utilization of real‐world data (RWD) and real‐world evidence (RWE) have been more focused on drug development for regulatory approval rather than during the post‐marketing stage. In Japan, RWD/RWE have been practically utilized as an external control for drug approval.
Junichi Asano +5 more
wiley +1 more source
Natriuretic peptide receptors regulate cytoprotective effects in a human ex vivo 3D/bioreactor model [PDF]
, 2013 © 2013 Peake et al.; licensee BioMed Central Ltd. This is an open access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and ...
Achan, P +8 more
core +2 more sources
Intervención desde la atención temprana en la familia de niños con acondroplasia [PDF]
, 2014 El objeto de la presente investigación es conocer el grado de información que las familias de niños con acondroplasia tienen en el momento del nacimiento de su hijo y de qué forma acceden a la misma, así como valorar las dificultades de la entrada a los ...
Aguilar Pache, Francisco Javier +5 more
core
Journal of Genetic Counseling, Volume 34, Issue 2, April 2025.Abstract The language surrounding disabilities has evolved from derogatory terms to the adoption of people‐first language. However, identity‐first language is being advocated for by some within the disability community. Using the preferred terminology is crucial to demonstrate respect and prevent stigmatization, especially in healthcare settings like ...
Tiffany Lepard +3 more
wiley +1 more source
Atención temprana e intervención familiar [PDF]
, 2012 La familia es el primer entorno donde nos desarrollamos y evolucionamos a nivel físico, educativo, social y emocional. Las experiencias en la primera infancia y los vínculos de apego que se establecen estarán determinados por el entorno familiar.
Bermejo García, María Luisa +6 more
core +1 more source
Non-invasive prenatal diagnosis (NIPD) for single gene disorders: cost analysis of NIPD and invasive testing pathways [PDF]
, 2016 OBJECTIVE: Evaluate the costs of offering non-invasive prenatal diagnosis (NIPD) for single gene disorders compared to traditional invasive testing to inform NIPD implementation into clinical practice.
Chitty, LS +6 more
core +1 more source
Journal of Genetic Counseling, Volume 34, Issue 2, April 2025.Abstract This study sought to quantify uptake rates of non‐invasive prenatal screening for de novo single‐gene disorders (NIPS‐SGD) in pregnant subjects whose reproductive partner is of advanced paternal age (APA) and to determine individual parameters associated with higher test uptake rates.
Kylie Katz +6 more
wiley +1 more source
Rapid detection of K650E mutation in FGFR3 using uncultured amniocytes in a pregnancy affected with fetal cloverleaf skull, occipital pseudoencephalocele, ventriculomegaly, straight short femurs, and thanatophoric dysplasia type II [PDF]
, 2013 ObjectiveTo present the ultrasound and molecular genetic diagnosis of thanatophoric dysplasia type II (TD2).Case ReportA 35-year-old, primigravid woman was referred to our institution for genetic counseling and amniocentesis at 19 weeks of gestation ...
Chang, Tung-Yao +5 more
core +2 more sources