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14q23.1
A chromosome band present on 14q
National Institutes of Health
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4 relations
Chromosomes
RTN1 wt Allele
SIX1 wt Allele
chromosome 14q
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2018
2018
Maternal interchromosomal insertional translocation leading to 1q43-q44 deletion and duplication in two siblings
Aixiang Luo
,
D. Cheng
,
+7 authors
Yueqiu Tan
Molecular Cytogenetics
2018
Corpus ID: 255983548
1q43-q44 deletion syndrome is a well-defined chromosomal disorder which is characterized by moderate to severe mental retardation…
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2014
2014
An intragenic deletion of the gene MNAT1 in a family with pectus deformities
Jennifer L. Heithaus
,
S. Davenport
,
K. Twyman
,
E. Torti
,
J. Batanian
American Journal of Medical Genetics. Part A
2014
Corpus ID: 5545420
Pectus carinatum and excavatum have multiple genetic associations. We report on a novel association of these deformities in a 34…
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2013
2013
Genome-wide analysis of runs of homozygosity identifies new susceptibility regions of lung cancer in Han Chinese
Cheng Wang
,
Zhengfeng Xu
,
+8 authors
Hongbing Shen
Journal of Biomedical Research
2013
Corpus ID: 2153424
Runs of homozygosity (ROHs) are a class of important but poorly studied genomic variations and may be involved in individual…
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2009
2009
Autistic features with speech delay in a girl with an ∼1.5‐Mb deletion in 6q16.1, including GPR63 and FUT9
K. Derwinska
,
J. Bernaciak
,
B. Wiśniowiecka-Kowalnik
,
E. Obersztyn
,
E. Bocian
,
P. Stankiewicz
Clinical Genetics
2009
Corpus ID: 20887443
To the Editor: Chromosomal deletions involving 6q16 are rare with less than 30 cases being described to date (1– 4). Phenotypic…
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2004
2004
SIX 1 mutations cause branchio-oto-renal syndrome by disruption of EYA 1 – SIX 1 – DNA complexes
Rainer G. Rufa
,
Pin-Xian Xuc
,
+19 authors
Friedhelm Hildebrandta
2004
Corpus ID: 28999808
Rainer G. Rufa,b,c, Pin-Xian Xuc,d,e, Derek Silviusd, Edgar A. Ottoa, Frank Beekmanna, Ulla T. Muerba, Shrawan Kumarf, Thomas J…
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