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The Novel Genetic Disorder Microhydranencephaly Maps To Chromosome 16P13.3-12.1
(Univ Chicago Press, 2000)
We studied a large consanguineous Anatolian family with children who exhibited hydranencephaly associated with microcephaly. The children were severely affected. This novel genetic disorder is autosomal recessive. We used ...
Molecular Cytogenetic Analysis And Resequencing Of Contactin Associated Protein-Like 2 In Autism Spectrum Disorders
(Cell Press, 2008)
Autism spectrum disorders (ASD) are a group of related neurodevelopmental syndromes with complex genetic etiology.(1) We identified a de novo chromosome 7q inversion disrupting Autism susceptibility candidate 2 (AUTS2) and ...
Maternal Brain Response to Own Baby-Cry Is Affected by Cesarean Section Delivery
(Wiley-Blackwell, 2008)
A range of early circumstances surrounding the birth of a child affects peripartum hormones, parental behavior and infant wellbeing. One of these factors, which may lead to postpartum depression, is the mode of delivery: ...
L-2-Hydroxyglutaric Aciduria: Identification of a Mutant Gene C14Orf160, Localized on Chromosome 14Q22.1
(Oxford Univ Press, 2004)
l-2-Hydroxyglutaric aciduria (l-2-HGA) is characterized by progressive deterioration of central nervous system function including epilepsy and macrocephaly in 50% of cases, and elevated levels of l-2-hydroxyglutaric acid ...
Active Cycle Of Breathing Techniques In Non-Invasive Ventilation For Acute Hypercapnic Respiratory Failure
(Australian Physiotherapy Assoc, 2004)
We hypothesised that applying the active cycle of breathing techniques (ACBT) in patients with acute hypercapnic respiratory failure undergoing non-invasive ventilation would improve patient outcome. Thirty-four patients ...
Isokinetic Strength Measurements In Early Knee Osteoarthritis
(Medfarma-Edicoes Medicas, Lda, 2009)
Objectives: One of the most important reasons for locomotor dysfunction and disability in patients with knee osteoarthritis (OA) is muscle weakness in the lower extremity. The aim of this study was to compare the isokinetic ...
Work-Related Asthma In Montreal, Quebec: Population Attributable Risk In A Community-Based Study
(Pulsus Group Inc, 2008)
BACKGROUND: Occupational exposures are an important cause of adult-onset asthma but the population attributable risk percentage (PAR%) has been less frequently studied. OBJECTIVES: To examine the distribution and determinants ...
An Evaluation Of The Variation In The Rates Of Occupational Accidents In Turkey With Trend Analysis Methodology - Are Occupational Accidents Really Diminishing?
(Saudi Med J, 2005)
Objectives: To show whether the rate of occupational accidents is decreasing in Turkey. Methods: Data on incidence and deaths due to occupational accidents in Turkey during the period 1970-2000 were obtained and evaluated ...