Results 161 to 170 of about 5,424,762 (351)

Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Malan syndrome is an ultra‐rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (NFIX) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients.
Alex F. Nisbet, Sylvie A. Adams, Zoe S. Katz, Christal G. Delagrammatikas, Kosuke Izumi, Winifred Sigal, Kim Ventarola, Elaine H. Zackai, Julia E. Reid, Grant T. Liu, Jennifer M. Kalish   +10 more
wiley   +1 more source

Functional and Psychiatric Correlates of Comorbid Post-Traumatic Stress Disorder and Alcohol Use Disorder. [PDF]

, 2018
Post-traumatic stress disorder (PTSD) and alcohol use disorder (AUD) are common comorbid conditions that affect large segments of the population. Individuals with comorbid PTSD/AUD face greater clinical and functional stressors than those with diagnoses ...
Haller, Moira, Lyons, Robert C, Norman, Sonya B, Straus, Elizabeth   +3 more
core  

The Critical Role of Fractionated Urine Glycosaminoglycans in the Evaluation of Mucopolysaccharidosis Type II in Four Unrelated Families

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Since 2015, Ann and Robert H. Lurie Children's Hospital has performed diagnostic testing for infants who screen positive for mucopolysaccharidosis type II (MPS II) on the Illinois newborn screen. Preliminary diagnostic testing includes measurement of plasma iduronate‐2‐sulfatase enzyme activity and urinary glycosaminoglycan analysis, followed ...
Carly A. Rasmussen, Monika Izdebski, Allison Paltzer, Rachel Hickey, Laura Pollard, Joshua Baker   +5 more
wiley   +1 more source

The Nature of Occupational Unemployment Rates in the United States: Hysteresis or Structural? [PDF]

This paper provides new evidence on the nature of occupational differences in unemployment dynamics, which is relevant for the debate between the structural or hysteresis hypotheses.
Candelon, Bertrand, Dupuy, Arnaud, Gil-Alana, Luis A.   +2 more
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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

Individual differences and occupational stress perceived: a Croatian survey [PDF]

Apart from elaborating the concept of occupational stress (through it’s definition, sources, consequences, ways of dealing with it, and it’s relationship with individual differences), the research had two objectives: (1) to measure occupational stress ...
Ana Bogdanić, Nina Pološki Vokić
core  

Milestone Attainment in Young Children With Arthrogryposis Multiplex Congenita: Developmental Profile and Associated Factors

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Evidence on developmental milestones in children with arthrogryposis multiplex congenita (AMC) under the age of five is scarce. This multisite cross‐sectional study described developmental status and examined factors associated with milestone attainment in 143 children aged 0–66 months from a pediatric AMC Registry.
Ahlam Zidan, Sophia C. Pasia, Emmanouil Rampakakis, Reggie Hamdy, Frank Rauch, Lauren C. Hyer, Joel Lerman, Haluk Altiok, Krister Freese, Cary Mielke, Sarah B. Nossov, Philip F. Giampietro, Thania Ordaz‐Robles, Noémi Dahan‐Oliel   +13 more
wiley   +1 more source

Underemployment and Job Quality Among Young Australians: A Gendered Analysis Using the HILDA Survey (2009–2022)

Australian Journal of Social Issues, EarlyView.
ABSTRACT Over almost two decades, young people's employment opportunities have been significantly impacted by events like the Global Financial Crisis (2008–2009) and the COVID‐19 pandemic (2020‐). Thus, underemployment has become a more pervasive and persistent feature of young people's labour market experiences. This research focuses on three forms of
Brendan Churchill
wiley   +1 more source

The effectiveness of orally applied L-menthol on exercise performance in the heat [PDF]

, 2019
During exercise in the heat, increasing thermal load leads to thermo-behavioural adjustments in exercise performance, due to greater perceptual and physiological strain.
Barwood, Martin, Best, Russell, Gillis, Jason, Jeffries, Owen   +3 more
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Measuring Child Disadvantage: Comparing Multidimensional and Socioeconomic Approaches for Predicting Developmental Outcomes

Australian Journal of Social Issues, EarlyView.
ABSTRACT Robust measurement of disadvantage is essential to identifying and addressing inequities in children's development. We tested how a multidimensional framework of child disadvantage performed relative to a traditional socioeconomic position (SEP) approach to predict developmental outcomes.
Wei Hong, Fiona Mensah, Elodie O'Connor, Shuaijun Guo, Sharon Goldfeld, Meredith O'Connor, Cindy Pham, Sarah Gray   +7 more
wiley   +1 more source