Results 131 to 140 of about 193,929 (313)

Distribution properties of compressing sequences derived from primitive sequences modulo odd prime powers [PDF]

arXiv, 2014
Let $\underline{a}$ and $\underline{b}$ be primitive sequences over $\mathbb{Z}/(p^e)$ with odd prime $p$ and $e\ge 2$. For certain compressing maps, we consider the distribution properties of compressing sequences of $\underline{a}$ and $\underline{b}$, and prove that $\underline{a}=\underline{b}$ if the compressing sequences are equal at the times $t$
arxiv  

Whole-exome sequencing of human pancreatic cancers and characterization of genomic instability caused by MLH1 haploinsufficiency and complete deficiency [PDF]

, 2011
Linghua Wang, Shuichi Tsutsumi, Tokuichi Kawaguchi, Koichi Nagasaki, Kenji Tatsuno, Shogo Yamamoto, Fei Sang, Kohtaro Sonoda, Minoru Sugawara, Akio Saiura, Seiko Hirono, Hiroki Yamaue, Yoshio Miki, Minoru Isomura, Yasushi Totoki, Genta Nagae, Takayuki Isagawa, Hiroki Ueda, Satsuki Murayama-Hosokawa, Tatsuhiro Shibata, Hiromi Sakamoto, Yae Kanai, Atsushi Kaneda, Tetsuo Noda, Hiroyuki Aburatani   +24 more
openalex   +1 more source

Neonatally Lethal Fanconi Anemia due to an Amish Founder FANCE Gene Variant; Evidence for Genotype–Phenotype Correlation

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Prenatal and neonatal presentations of multiple congenital anomalies are difficult to diagnose and are associated with an increased risk of lethality. The differential diagnosis of antenatal presentations of radial ray malformations includes Fanconi anemia (FA), an inherited bone marrow failure disorder associated with congenital anomalies in ...
Ethan M. Scott, Olivia K. Wenger, Matthew Adams, Emma L. Baple, Andew Crosby, Joseph Leslie   +5 more
wiley   +1 more source

Expanding the SIAH1‐Associated Phenotypic Spectrum: Insights From Loss‐of‐Function Variants

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT SIAH1 encodes for a RING‐type E3 ubiquitin ligase involved in protein ubiquitination. More specifically, it positively regulates Wnt signaling through promoting the accumulation of β‐catenin and mediates ubiquitination and degradation of Akt3 in neural development.
Liza Douiev, Paula Fernandez Alvarez, Marika Frank, Lucy Hanington, Trevor L. Hoffman, Mira B. Irons, Jenny Kim, Akash Kumar, Amaia Lasa‐Aranzasti, Diana Le Duc, Helen Livesey, Oliver Murch, Deborah Shears, Brandon K. Walther, Tamar Harel   +14 more
wiley   +1 more source

On sequency-complete and sequency-ordered matrices [PDF]

arXiv
The concept of sequency holds a fundamental significance in signal analysis using Walsh basis functions. In this study, we closely examine the concept of sequency and explore the properties of sequency-complete and sequency-ordered matrices. We obtain results on cardinalities of sets containing sequency-complete and sequency-ordered matrices of ...
arxiv  

Composition inverses of the variations of the Baum-Sweet sequence [PDF]

arXiv, 2018
Studying and comparing arithmetic properties of a given automatic sequence and the sequence of coefficients of the composition inverse of the associated formal power series (the formal inverse of that sequence) is an interesting problem. This problem was studied before for the Thue-Morse sequence.
arxiv  

Exome and Whole-Genome Sequencing as Clinical Tests: A Transformative Practice in Molecular Diagnostics [PDF]

, 2012
Yongguo Yu, Bai‐Lin Wu, Jie Wu, Yiping Shen   +3 more
openalex   +1 more source

Obesity Prevalence in DDX3X‐Related Neurodevelopmental Disorder

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The purpose of this study is to analyze the prevalence of obesity in those affected by DDX3X‐related neurodevelopmental disorder (DDX3X‐NDD). Initial descriptions suggested that individuals with DDX3X‐NDD suffered from poor weight gain or failure to thrive in early childhood, likely in the setting of feeding difficulties and secondary to ...
Giavanna Verdi, Nathaniel H. Robin
wiley   +1 more source

Whole exome sequencing analysis identifies genes for alcohol consumption

Nature Communications
Alcohol consumption is a heritable behavior seriously endangers human health. However, genetic studies on alcohol consumption primarily focuses on common variants, while insights from rare coding variants are lacking.
Jujiao Kang, Yue-Ting Deng, Bang-Sheng Wu, Wei-Shi Liu, Ze-Yu Li, Shitong Xiang, Liu Yang, Jia You, Xiaohong Gong, Tianye Jia, Jin-Tai Yu, Wei Cheng, Jianfeng Feng   +12 more
doaj   +1 more source

Whole-Exome Sequencing Identifies One De Novo Variant in the FGD6 Gene in a Thai Family with Autism Spectrum Disorder

International Journal of Genomics, 2018
Autism spectrum disorder (ASD) has a strong genetic basis, although the genetics of autism is complex and it is unclear. Genetic testing such as microarray or sequencing was widely used to identify autism markers, but they are unsuccessful in several ...
Chuphong Thongnak, Areerat Hnoonual, Duangkamol Tangviriyapaiboon, Suchaya Silvilairat, Apichaya Puangpetch, Ekawat Pasomsub, Wasun Chantratita, Pornprot Limprasert, Chonlaphat Sukasem   +8 more
doaj   +1 more source