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1q43-q44

A chromosome band present on 1q
National Institutes of Health

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2019
Review
2019
1q44 deletion is a rare syndrome associated with facial dysmorphism and developmental delay, in particular related with… Expand
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2018
2018
Background1q43-q44 deletion syndrome is a well-defined chromosomal disorder which is characterized by moderate to severe mental… Expand
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2017
2017
DNA alterations in the 1q43‐q44 region are associated with syndromic neurodevelopmental disorders characterized by global… Expand
2017
2017
BackgroundOur study was aimed to explore the clinical implication of chromosome microarray analysis (CMA) in genetically… Expand
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Review
2016
Review
2016
Copy Number Variations (CNVs) comprising the distal 1q region 1q43‐q44 are associated with neurological impairments, structural… Expand
2013
2013
Deletions on the distal portion of the long arm of chromosome 1 result in complex and highly variable clinical phenotypes which… Expand
Highly Cited
2012
Highly Cited
2012
BackgroundUsher syndrome (USH) is an autosomal recessive genetically heterogeneous disorder with congenital sensorineural hearing… Expand
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Review
2008
Review
2008
To the Editor: Hearing impairment (HI) is a common sensory disorder that exhibits extensive genetic heterogeneity. Approximately… Expand
2007
2007
Asthma and bronchial hyper-responsiveness (BHR), an asthma-related phenotype, result from many genetic (G) and environmental (E… Expand
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Highly Cited
2004
Highly Cited
2004
Diffuse large B-cell lymphoma (DLBCL) is the most common type of non-Hodgkin’s lymphoma and exhibits aggressive and heterogeneous… Expand
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