Results 111 to 120 of about 22,109 (264)
, 2014 CDI: Clostridium difficile infection; AAD: Antibiotic-associated diarrhoea; n: number; IQR: Interquartile range; Min.: Minimum; Max.: Maximum; OR: Odds ratios; CI: Confidence interval; N/A: Not applicable.*P-value was calculated using binary logistic ...
Margaret Little (623703) +9 more
core +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The 2q31 region is commonly associated with pathogenic alleles of the HOXD cluster leading to various clinical phenotypes related to skeletal development. We present a proband with tetralogy of Fallot and multiple congenital anomalies. Genomic variant screening including an in‐house CGR detection pipeline pairing genome sequencing (GS ...
Katherine Helle +10 more
wiley +1 more source
Traffic and Transit Travel Time Reliability Indexes and Confidence Intervals
, 2017 As congestion worsens, the importance of rigorous methodologies to estimate travel time reliability increases. Exploiting fine-granularity transit GPS data, this research proposes a novel method to estimate travel time percentiles and confidence ...
Miguel A. Figliozzi, Travis B. Glick
core +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide +10 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT WAGR spectrum disorder (WAGRSD) is an ultra‐rare congenital disorder caused by heterozygous deletion of chromosome 11p13. While classically associated with Wilms tumor, Aniridia, Genitourinary anomalies, and a Range of developmental delays, accurate delineation of the deletion is critical for prognosis because the phenotypic spectrum extends ...
Andrew M. George +11 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Heterozygous variants in the AHDC1 gene are associated with Xia Gibbs Syndrome (XGS), a genetic disorder with a highly variable phenotype. Cognitive impairment, motor delay, language delay, neonatal hypotonia, and sleep apnea are considered “cardinal” signs of the disease.
Giulia Cinelli +18 more
wiley +1 more source
Manumission in Nineteenth Century Virginia [PDF]
A long-standing debate concerns the rationality of slave owners and this paper addresses that debate within the context of manumission. Using a new sample of 19th-century Virginia manumissions, I show that manumission was associated with the productive ...
Howard Bodenhorn
core
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Arrhythmias affect approximately half of patients with Costello syndrome (CS, OMIM # 218040), with non‐reentrant atrial tachycardia being the most common. This case describes an infant with Costello syndrome carrying the pathogenic HRAS c.34G>A (p.G12S) variant who developed early‐onset, drug‐refractory multifocal atrial tachycardia (MAT ...
Vanina Taliercio +11 more
wiley +1 more source
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 +16 more
wiley +1 more source
Balancing latency and availability in geo-distributed cloud data stores
, 2013 Modern web applications face stringent requirements along many dimensions including latency, scalability, and availability. In response, several geo-distributed cloud storage systems have emerged in recent years.
Tawarmalani, Mohit +3 more
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