Results 141 to 150 of about 250,300 (327)

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

open access: yesAmerican 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

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

open access: yesAmerican 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

CORAL: the prediction of biodegradation of organic compounds with optimal SMILES-based descriptors

open access: yesOpen Chemistry, 2012
Toropov Andrey   +6 more
doaj   +1 more source

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

open access: yesThe 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   +6 more
wiley   +1 more source

Commentary: The Dynamic Features of Lip Corners in Genuine and Posed Smiles

open access: yesFrontiers in Psychology, 2018
Yingqi Li   +8 more
doaj   +1 more source

Smile A Diagnostic Tool: Photographic analysis in Adult Gujarati Population

open access: gold, 2014
Iosr Journals   +1 more
openalex   +1 more source

Science smiles [PDF]

open access: bronze, 2013
Ayan Guha
openalex   +1 more source

A Randomized, Placebo‐Controlled Trial of Hydroxychloroquine in Incomplete Lupus

open access: yesArthritis &Rheumatology, EarlyView.
Objective Patients with features of systemic lupus erythematosus (SLE) who do not fulfill classification criteria can be designated as incomplete lupus erythematosus (ILE). This condition includes individuals with a high risk of progression to SLE. Treatment of ILE may reduce symptoms, severity, and incidence of SLE.
Nancy J. Olsen   +14 more
wiley   +1 more source

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