Results 161 to 170 of about 4,957,759 (352)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The FGFR2 gene, encoding the FGFR2 protein, plays a crucial role in embryonic cell development, particularly in bone tissue. Bent Bone Dysplasia (BBD), FGFR2‐related (MIM# 614592), is a rare severe skeletal dysplasia characterized by craniofacial differences, reduced bone mineral density, and bowed long bones.
Cheyenne Bates +6 more
wiley +1 more source
Association between community health center and rural health clinic presence and county-level hospitalization rates for ambulatory care sensitive conditions: an analysis across eight US states [PDF]
, 2009 Janice C. Probst +2 more
openalex +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Smith‐Kingsmore syndrome (SKS) is a rare autosomal dominant condition characterized by neurodevelopmental differences, macrocephaly/megalencephaly, describable facial features, sleep–wake abnormalities, hyperphagia, and overgrowth. SKS is caused by pathogenic gain‐of‐function variants in MTOR which lead to hyperactivation of the mTOR pathway ...
Carolyn R. Raski, Carlos E. Prada
wiley +1 more source
Leveraging National Reports to Transform Ambulatory Care Practice [PDF]
, 2017 Multiple national reports identify actionable recommendations to transform education and practice to meet the needs of health care and healthcare delivery beyond the hospital walls. The Josiah Macy Jr.
Jessie, Anne T., Swan, Beth Ann
core +1 more source
Genetic and Phenotypic Features of the Five Known Polyaminopathies: A Critical Narrative Review
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Polyaminopathies are a recently described family of rare genetic neurodevelopmental disorders. Polyaminopathies disrupt the biosynthesis of the primary polyamines: putrescine, spermidine, and spermine. Snyder–Robinson syndrome results from hemizygous loss‐of‐function variants in the spermine synthase (SMS) gene, resulting in decreased or ...
Elizabeth A. VanSickle +26 more
wiley +1 more source
Cost and Predictors of Hospitalizations for Ambulatory Care - Sensitive Conditions Among Medicaid Enrollees in Comprehensive Managed Care Plans [PDF]
, 2016 William N. Mkanta +4 more
openalex +1 more source
Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen +13 more
wiley +1 more source
Day surgery and general anaesthesia : what makes patients anxious? [PDF]
, 2010 For many patients the prospective of undergoing surgery and general anaesthesia is highly anxiety provoking. With the global rise in day surgery and limited nurse/ patient contact, anxiety has become a prominent issue.
Mitchell, MJ
core +1 more source
Annals of Neurology, EarlyView.Objective Impaired ability to induce stepping after incomplete spinal cord injury (SCI) can limit the efficacy of locomotor training, often leaving patients wheelchair‐bound. The cuneiform nucleus (CNF), a key mesencephalic locomotor control center, modulates the activity of spinal locomotor centers via the reticulospinal tract.
Anna‐Sophie Hofer +21 more
wiley +1 more source