Results 131 to 140 of about 572,824 (276)

Discovering Better AAAI Keywords via Clustering with Community-Sourced Constraints

, 2014
Selecting good conference keywords is important because they often determine the composition of review committees and hence which papers are reviewed by whom.
Brodley, Carla, Wallace, Byron, Moran, Kelly   +2 more
core   +1 more source

Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gabriele‐de Vries syndrome (GADEVS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the YY1 gene. Like most rare genetic syndromes, the adult manifestations of GADEVS remain poorly defined. Here, we describe the oldest patient reported to date with GADEVS—a 63‐year‐old woman with a c.1177_1179del YY1 variant ...
Ethan W. Hollingsworth, Changrui Xiao
wiley   +1 more source

Response Letter to the Editor in Reference to Letter to the Editor about “Does Overall Catastrophic Health Care Expenditure Make Sense”?

Iranian Journal of Public Health, 2018
Response Letter to the Editor in Reference to Letter to the Editor about “Does Overall Catastrophic Health Care Expenditure Make Sense”?
Manal ETEMADI, Aidin ARYANKHESAL
doaj  

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy, Jesse Richards, Brooke R. Sweeney, Seema Kumar, Katie E. Queen, Joshua Zaritsky, Carl H. Cramer, Elias I. Traboulsi, Brittni A. Scruggs, Erica E. Davis, Ekaterina Keifer, Emma McGibbon, Timothy Ogden, Bendert De Graaf, Tonia Hymers, Elizabeth Forsythe, Philip Beales   +16 more
wiley   +1 more source

Effect of Temporomandibular Disorders on Quality of Life in Elderly Individuals

Iranian Journal of Public Health, 2018
Effect of Temporomandibular Disorders on Quality of Life in Elderly ...
Thomás SANTANA SÓRIA, Giordano S ANTANA SÓRIA, Raul ANTÔNIO CRUZ, Myrian CAMARA BREW, Eduardo GROSSMANN, Caren SERRA BAVARESCO   +5 more
doaj  

Psychiatric and Cognitive Features in Italian Women With the FMR1 Premutation: A Comprehensive Assessment Using SCID‐5 and Standardized Cognitive Measures

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Women with the FMR1 premutation (PM) are at increased risk for fragile X‐associated conditions (FXPAC), including cognitive and psychiatric features collectively termed fragile X‐associated neuropsychiatric disorders (FXAND). This study is the first to systematically investigate cognitive and psychiatric features in Italian female premutation ...
Federica Alice Maria Montanaro, Randi J. Hagerman, Giuseppina Spano, Flora Tassone, Giancarlo Logroscino, Andrea Bosco   +5 more
wiley   +1 more source

Keywords [PDF]

Journal of Alloys and Compounds, 2013
  +6 more sources

Noise-related Hearing Loss in Workers of a Thermal Reactor

Iranian Journal of Public Health, 2017
Noise-related Hearing Loss in Workers of a Thermal ...
F Ceyda AKINOCAL, Ramazan OCAL, Gulsun ADSIZ, Erol BELGIN   +3 more
doaj  

Organization of information using keywords

, 2007
Nepieciešamība izmantot iepriekš iegūtu informāciju rada nepieciešamību pēc informācijas organizēšanas rīkiem. Digitālo informāciju var organizēt dažādos veidos. Viens no veidiem ir izmantojot atslēgvārdus vai birkas.
Lisovskis, Endijs
core  

Spectrum of Congenital Anomalies in Myhre Syndrome—Insights Into Effects Brought by Altered TGF‐β Signaling via Gain‐of‐Function Variants in SMAD4

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena, Alessandro De Falco, Deborah Osio, Eleanor Sherlock, Emma Kivuva, Erina Sasaki, Francis H. Sansbury, Nayana Lahiri, Patricia Foley, Sahar Mansour, Shane McKee, Tazeen Ashraf, Nicola Brunetti‐Pierri, Usha Kini   +13 more
wiley   +1 more source