نتایج جستجو برای: yq deletions

تعداد نتایج: 19460  

Journal: :CoRR 2017
Ryan Gabrys Frederic Sala

In this work, we investigate the problem of constructing codes capable of correcting two deletions. In particular, we construct a code that requires redundancy approximately 8 log2 n+O(log2 log2 n) bits of redundancy, where n denotes the length of the code. To the best of the author’s knowledge, this represents the best known construction in that it requires the lowest number of redundant bits ...

Journal: :Information and Computation 1996

Journal: :Pediatric Neurology Briefs 1992

Journal: :modares journal of medical sciences: pathobiology 2010
atefeh shirkavand nejat mahdieh hamideh bagherian maryam sharafi farzad roghayeh vahidi

objective: hearing loss is the most frequent neurosensory defect in human. mutations in gjb2 and gjb6 are responsible for 50% of autosomal recessive non-syndromic hearing loss (arnshl) cases. here we report on the frequencies of gjb2 and gjb6 mutations and three large deletions spanning the gjb6 gene including del (gjb6-d13s1830), del (gjb6-d13s1854) and a >920 kb deletion in patients affected ...

Journal: :American journal of human genetics 2002
Sjoerd Repping Helen Skaletsky Julian Lange Sherman Silber Fulco Van Der Veen Robert D Oates David C Page Steve Rozen

It is widely believed that at least three nonoverlapping regions of the human Y chromosome-AZFa, AZFb, and AZFc ("azoospermia factors" a, b, and c)-are essential for normal spermatogenesis. These intervals are defined by interstitial Y-chromosome deletions that impair or extinguish spermatogenesis. Deletion breakpoints, mechanisms, and lengths, as well as inventories of affected genes, have bee...

2015
M. Burak Kaplan Hasan Acar

BACKGROUND Infertility is a health problem which affects about 10-20% of married couples. Male factor infertility is involved approximately 50% of infertile couples. Most of male infertility is regarding to deletions in the male-specific region of the Y chromosome. OBJECTIVE In this study, the occurrence of deletions in the AZF region and association between infertility and paternal age were ...

Journal: :Japanese Journal of Oral and Maxillofacial Surgery 2023

Sotos syndrome is a genetic disorder characterized by overgrowth, megalocephaly, and mental retardation due to mutations or deletions in the nuclear receptor binding SET Domain protein 1 (NSD1) gene. We report case of with various oral symptoms.

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