Results 141 to 150 of about 6,861,462 (220)

A Constructivist’s Journey: From PCP to Social Constructionism- and back?

open access: yes, 2008
In this presentation I want to comment on what I see as the location of Personal Construct Psychology within the field of psychology more generally, and particularly in relation to the theoretical perspective that has come to be known as social ...
Burr, Vivien
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Distinct Neuropsychiatric Profiles Associated With 17p11.2 Deletions and RAI1 Variants in Smith–Magenis Syndrome

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Smith–Magenis syndrome (SMS) results from either a recurrent 17p11.2 deletion or pathogenic variants in the retinoic acid induced 1 gene (RAI1). While neurodevelopmental impairment and behavioral dysregulation are well recognized, systematic genotype‐stratified analyses across psychiatric domains remain limited.
Albin Blanc   +7 more
wiley   +1 more source

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

open access: yesAmerican 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   +5 more
wiley   +1 more source

XII festa avante

open access: yes, 2009
Sobre fons blanc programa d ...
Festa Avante (12ena : 1988 : Loures)
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The Diagnosis That Arrived Decades Late: Living Without and Then With Myhre Syndrome

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MIM #139210) is a rare multisystem disorder first described in 1981, characterized by short stature, neurodevelopmental delay, joint contractures, and cardiopulmonary complications. Its molecular basis, recurrent pathogenic variants in SMAD4, was not discovered until 2011. This narrative is based on a review of medical records,
Abdallah F. Elias
wiley   +1 more source

PCP: Efficient endpoint congestion control

open access: yes, 2006
In this paper, we present the design, implementation, and evaluation of a novel endpoint congestion control system that achieves near-optimal performance in all likely circumstances. Our approach, called the Probe Control Protocol (PCP), emulates network-
John Zahorjan   +3 more
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Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young   +6 more
wiley   +1 more source

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

open access: yesAmerican 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   +13 more
wiley   +1 more source

‘The Other Parent’: A Critical Policy Analysis of Fatherhood Discourses in the Australian Government's Paid Parental Leave Scheme

open access: yesAustralian Journal of Social Issues, EarlyView.
ABSTRACT The Australian paid parental leave (PPL) government scheme aims to support working parents through financial assistance and the promotion of gender equality in caregiving responsibilities. However, the scheme's implementation has been critiqued for its gendered design, which marginalises fathers and reinforces traditional gender roles.
Lily Lewington   +2 more
wiley   +1 more source

Effect of Pentachlorophenol (PCP) to Sucrose-Fed Anaerobic System

open access: yes, 2011
[[abstract]]摘 要 五氯酚(Pentachlorophonel, PCP)為高毒性的芳香族殺蟲劑,常見於木料防腐,對微生物具有通適毒性,經厭氧微生物系統降解可形成低毒性中間產物或礦化為甲烷和二氧化碳。當五氯酚存在於厭氧微生物系統,可能會破壞原有代謝路徑達到另一平衡而造成代謝產物變動。由於厭氧微生物共營的生態系統中,微生物對有機物的一連串代謝過程,各由不同的菌種或菌群進行分工,因此當五氯酚毒性導致厭氧系統中生化代謝路徑異動時,代表著厭氧系統中的菌群可能隨著環境而發生變異 ...
Tu Shuo-Hsiu, 涂碩修
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