Results 131 to 140 of about 119,839 (341)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Genitopatellar syndrome (GPS) and Say‐Barber‐Biesecker‐Young‐Simpson Syndrome (SBBYSS) are clinically distinct neurodevelopmental disorders caused by monoallelic pathogenic variants in KAT6B. In some cases, GPS and SBBYSS features can overlap, determining an intermediate phenotype.
Vittorio Maglione +12 more
wiley +1 more source
Exploring Oral Health Related Quality of Life in Rett Syndrome Using Directed Content Analysis
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT No validated oral health‐related quality of life (OHRQOL) instrument currently exists for those with severe intellectual and developmental disabilities and who communicate non‐verbally. This qualitative study aimed to explore the domains that were important to the oral health‐related quality of life in individuals with Rett syndrome (RTT).
Yvonne Yee Lok Lai +4 more
wiley +1 more source
The Hazen Mammoth (Mammuthus columbi), Prairie County, Arkansas [PDF]
, 1974 In May 1965, mammoth remains were exposed during the excavation of a borrow pit for construction of Interstate Highway 40, 2 mi northeast of Hazen, Prairie County, Arkansas.
Puckette, William L., Scholtz, James A.
core +2 more sources
XX.—Description of a new species of reed-rat (Aulacodus) from East Africa, with remarks on the milk-dentition of the genus [PDF]
, 1894 Oldfield Thomas
openalex +1 more source
Dentofacial Malocclusion in Neurofibromatosis 1 in Finland
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Neurofibromatosis 1 (NF1) is an inherited disease that can be accompanied by oral health problems such as caries, periodontitis, and tumors affecting the oral cavity. Also, different maxillary and mandibular malformations are associated with NF1.
Vivian Reinhold +6 more
wiley +1 more source
Numerical simulation of the stress-strain state of the dental system
, 2015 We present mathematical models, computational algorithms and software, which can be used for prediction of results of prosthetic treatment. More interest issue is biomechanics of the periodontal complex because any prosthesis is accompanied by a risk of ...
Lemeshevsky, Sergey V. +4 more
core +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The interstitial 6p microdeletion syndrome is characterized by dysmorphic facies and structural heart, kidney, brain, and musculoskeletal differences. RREB1 haploinsufficiency and consequent abnormal RAS‐MAPK pathway signaling have been proposed as a driver of the disease phenotype; however, apart from a single case report, the phenotype of ...
Alanna Strong +16 more
wiley +1 more source
Mandibular Dentition in Six Species of Salamanders, genus Plethodon (Caudata: Plethontidae), from Arkansas Using Scanning Electron Microscopy [PDF]
, 1988 The mandibular (dentary) dentition of six species of Plethodon (P. caddoensis, P. dorsalis, P. fourchensis, P. glutinosus, P. ouachitae, and P. serratus) from Arkansas was studied using scanning electron microscopy.
Atwill, Richard A., Trauth, Stanley E.
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American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Whole exome sequencing (WES) has been widely used in the pediatric setting to increase diagnostic yield, provide treatment options, and to estimate reoccurrence risks. However, there is limited knowledge regarding the utility of this technology in adults with neurodevelopmental disabilities.
Ruhi Shah +6 more
wiley +1 more source
New middle Pliocene rodent and lagomorph faunas from Oregon and California [PDF]
, 1937 The purpose of this paper is the description of two rodent faunas in the collections of the California Institute of Technology. Although coming from widely separated areas, these assemblages are of approximately the same age.
Wilson, Robert W.
core