Results 171 to 180 of about 594,620 (381)

Non‐RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and RAF1 account for most genetically confirmed cases, diagnosis is challenging due to phenotypic overlap ...
Gabriela Jeesoo Kim, Alexsandra Christianne Malaquias, Debora Romeo Bertola, Raissa Carneiro Rezende, Laurana De Polli Cellin, Lucas Vieira Lacerda Pires, Ana Maria Santillan‐Vasconez, Antônio Marcondes Lerario, Renata da Cunha Scalco, Alexander Augusto de Lima Jorge   +9 more
wiley   +1 more source

Does the Expectation Hypothesis Hold at the Shortest End of the Term Structure? [PDF]

This paper examines the predictability smile at the shortest end of the term structure. The existence of a predictability smile has been well documented: spreads between long rates and short rates are able to forecast subsequent movements in interest ...
Uesugi, Iichiro, Yamashiro, Guy M.
core  

Smiling and Nodding

, 2014
Susan Robertson
openalex   +2 more sources

Clinical Presentation of the Longest Reported Living Individual With Bent Bone Dysplasia—FGFR2‐Related

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, Pardeep Gill, Matthew Choi, Frances Mahon, Blake Yarascavitch, Audrey Lim, Resham Ejaz   +6 more
wiley   +1 more source

Syndrome of the Month: An Update on Smith‐Kingsmore Syndrome: Characterization of Developmental Milestones and a Review of the Literature

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

Smiling under stochastic volatility [PDF]

This paper studies the behavior of the implied volatility function (smile) when the true distribution of the underlying asset is consistent with the stochastic volatility model proposed by Heston (1993). The main result of the paper is to extend previous
León, Angel, Rubio Irigoyen, Gonzalo
core  

Quality-driven programming in global surgery: A 30-Year institutional experience delivering safe, timely and effective surgical care

Annals of Global Health, 2015
L.C. Carlson, K.W. Hatcher, R. Ayala, W.P. Magee, R. Vander Burg   +4 more
doaj   +1 more source

Comparison of clinical outcomes following small incision lenticule extraction performed with the visumax 800 versus visumax 500 femtosecond laser

Scientific Reports
This study compared clinical outcomes between small incision lenticule extraction (SMILE) procedures performed with the Visumax 800 and Visumax 500 femtosecond lasers. We compared the clinical outcomes of 100 eyes of 50 patients who underwent SMILE using
Bu Ki Kim, Young Taek Chung
doaj   +1 more source

Descriptive, comparative, and functional anatomy of the facial musculature in cattle (Bos taurus)

The Anatomical Record, EarlyView.
Abstract Facial expressions can provide insight into animal emotions and pain, but no standardized system for assessing the entire facial display in cattle (Bos taurus Linnaeus) exists. The Facial Action Coding System (FACS), originally developed for humans, identifies distinct facial movements based on mimetic muscles.
Maja Söderlind, Bridget Cain, Katrina Ask, Jean‐Francois Valarcher, Elin Hernlund, Pia Haubro Andersen, Marie Rhodin   +6 more
wiley   +1 more source

Smile A Diagnostic Tool: Photographic analysis in Adult Gujarati Population

, 2014
Iosr Journals, Dr.Dolly Patel Dr.Harshik Parekh   +1 more
openalex   +1 more source