Exclusion of the Locus for Autosomal Recessive Pseudohypoaldosteronism Type 1 from the Mineralocorticoid Receptor Gene Region on Human Chromosome 4q by Linkage Analysis. [PDF]
, 1995 Pseudohypoaldosteronism type 1 (PHA1) is an uncommon inherited disorder characterized by salt-wasting in infancy arising from target organ unresponsiveness to mineralocorticoids.
Hanukoglu, A. +10 more
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Further genetic heterogeneity for autosomal dominant human sutural cataracts [PDF]
, 2003 A unique sutural cataract was observed in a 4-generation German family to be transmitted as an isolated autosomal, dominant trait. Since mutations in the gamma-crystallin encoding CRYG genes have previously been demonstrated to be the most frequent ...
Graw, Jochen +8 more
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Differences in the evolutionary history of disease genes affected by dominant or recessive mutations [PDF]
, 2006 Background Global analyses of human disease genes by computational methods have yielded important advances in the understanding of human diseases. Generally these studies have treated the group of disease genes uniformly, thus ignoring the type of ...
Núria López-Bigas +8 more
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Running up Blueberry Hill: prototyping whole body interaction in harmony space [PDF]
, 2009 Musical harmony is considered to be one of the most abstract and technically difficult parts of music. It is generally taught formally via abstract, domain-specific concepts, principles, rules and heuristics.
Nadia Pantidi +17 more
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Learning about harmony with Harmony Space: an overview (Extended Technical Report) STAN-M-88 [PDF]
, 1994 Recent developments are presented in the evolution of Harmony Space, a highly enabling interface designed to encourage and facilitate rapid learning, especially by beginners, about the practical use and theory of tonal harmony, especially as applied to ...
Holland, Simon
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IDENTIFICATION OF DISEASE GENES FOR RARE AUTOSOMAL RECESSIVE EPILEPTIC SYNDROMES BY HOMOZYGOSITY MAPPING [PDF]
, 2011 Introduction: The genetics of the most common neurological disorders, including epilepsy, with mendelian inheritance has been dissected in the last twenty years. However the genetic etiology of some rare epileptic conditions is still unknown.
Coppola, Antonietta
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, 2020 Harmony is a special feeling you get when you notice two ore more things fitting together really well. Different experiences evoke harmony for different people.
Carrie Heeter (8125265)
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, 2023 Harmony Day is a celebration of our cultural diversity – a day of cultural respect for everyone who calls Australia home. Held every year in March, Harmony Day coincides with the United Nations International Day for the Elimination of Racial ...
Day, Harmony
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Re-inventing Harmony in Electroacoustic Music: A commentary on my Recent Music [PDF]
Re-inventing Harmony in Electroacoustic Music reflects on research regarding structuring pitch-based material in my music written between 1999 and 2010.
Sundin, Paulina E.
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Fractional power NARX model identification using a harmony search algorithm [PDF]
, 2012 A novel type of discrete-time fractional-powernonlinear autoregressive with exogenous input (FPNARX) modelis introduced for system identification, modeling and prediction.Parameter estimation of such a model is a nonlinear optimizationproblem.
Zhao, Yifan +7 more
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