نتایج جستجو برای: oca

تعداد نتایج: 651  

2017
Xiong Wang Yaowu Zhu Na Shen Jing Peng Chunyu Wang Haiyi Liu Yanjun Lu

Oculocutaneous albinism (OCA) is an autosomal recessive disorder characterized by hypopigmentation of the skin, hair, and eyes accompanied with ophthalmologic abnormalities. Molecular genetic test can confirm the diagnosis of the four subtypes of OCA (OCA1-4). Herein, we report a Chinese family with two patients affected by OCA. Mutations of TYR, OCA2, TYRP1, and SLC45A2 were examined by using ...

Journal: :IMAGO. Revista de Emblemática y Cultura Visual 2018

2013
Heinz Handler

Soon after the establishment of the Eurozone it became obvious that the structural differences between member countries would not abate, as expected, but rather gradually widen. Although part of the problem can be attributed to the enlargement process, it also relates to asymmetric effects of the common currency and to diverging economic policies. This paper discusses the literature which assoc...

Journal: :The American journal of clinical nutrition 1982
J Weininger J C King

Ascorbic acid (AA) metabolism was studied in six sexually mature female rhesus monkeys with normal menstrual cycles before and during oral contraceptive administration. The animals were fed a commercial monkey stock diet (15% protein) containing no AA and given a 100 mg AA tablet daily throughout the study. After an initial adaptation period and a control period (total 8 months), combined-type ...

2017
Mohsin Shahzad Sairah Yousaf Yar M. Waryah Hadia Gul Tasleem Kausar Nabeela Tariq Umair Mahmood Muhammad Ali Muzammil A. Khan Ali M. Waryah Rehan S. Shaikh Saima Riazuddin Zubair M. Ahmed Michael J. Bamshad Jay Shendure Deborah A. Nickerson Gonçalo R. Abecasis Peter Anderson Elizabeth Marchani Blue Marcus Annable Brian L. Browning Kati J. Buckingham Christina Chen Jennifer Chin Jessica X. Chong Gregory M. Cooper Colleen P. Davis Christopher Frazar Tanya M. Harrell Zongxiao He Preti Jain Gail P. Jarvik Guillaume Jimenez Eric Johanson Goo Jun Martin Kircher Tom Kolar Stephanie A. Krauter Niklas Krumm Suzanne M. Leal Daniel Luksic Colby T. Marvin Sean McGee Karynne Patterson Marcos Perez Sam W. Phillips Jessica Pijoan Christa Poel Seamus Ragan Frederic Reinier Peggy D. Robertson Regie Santos-Cortez Aditi Shankar Krystal Slattery Cindy Shephard Kathryn M. Shively Deborah L. Siegel Joshua D. Smith Holly K. Tabor Monica Tackett Marc Wegener Gao Wang Marsha M. Wheeler Amber Wright Qian Yi

Nonsyndromic oculocutaneous Albinism (nsOCA) is clinically characterized by the loss of pigmentation in the skin, hair, and iris. OCA is amongst the most common causes of vision impairment in children. To date, pathogenic variants in six genes have been identified in individuals with nsOCA. Here, we determined the identities, frequencies, and clinical consequences of OCA alleles in 94 previousl...

Journal: :Journal of molecular pathology 2023

The detection of driver oncogenic variants and the recent identification tumor-agnostic genomic biomarkers has driven use comprehensive profiling (CGP) for disease diagnosis, prognosis, treatment selection. Oncomine™ Comprehensive Assay Plus (OCA+) panel uses DNA RNA to detect single nucleotide (SNVs), small insertions/deletions (Indels), structural (SVs) across 501 genes. Moreover, microsatell...

2001
Andreas Klein Martin Kutrib

Space-bounded one-way cellular language acceptors (OCA) are investigated. The only inclusion known to be strict in their time hierarchy from real-time to exponential-time is between real-time and linear-time! We show the surprising result that there exists an infinite hierarchy of properly included OCA-language families in that range. A generalization of a method in [10] is shown that provides ...

Journal: :Ingeniería: ciencia, tecnología e innovación 2021

El presente trabajo tuvo como propósito elaborar un chip de oca, teniendo variables la temperatura (160-180°C) y tiempo (30-90 segundos) fritura. Se aplicó diseño factorial 3k, con tres niveles para cada factor depediente textura luminosidad del oca. La Oca (Oxalis Tuberosa) las siguientes características fisicoquímicas, humedad (%) 79.14±1.21, proteínas 1.04±0.95, extracto etéreo 0.89±0.15, ce...

Journal: :JASIST 2011
Mohammed Rushdi-Saleh Maria Teresa Martín-Valdivia Luis Alfonso Ureña López José Manuel Perea Ortega

Sentiment analysis is a challenging new task related to text mining and natural language processing. Although there are, at present, several studies related to this theme, most of these focus mainly on English texts. The resources available for opinion mining (OM) in other languages are still limited. In this article, we present a new Arabic corpus for the OM task that has been made available t...

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