Results 121 to 130 of about 15,103 (215)

GNE-related thrombocytopenia (Thrombocytopenia-12) in a 3-month-old from a Middle Eastern background infant: a case report

Hematology
Background Congenital thrombocytopenia represents a diagnostically challenging group of disorders due to overlapping clinical presentations among various etiologies.Case Presentation A 3-month-old infant presented with severe thrombocytopenia (platelet ...
Omar Ahmed Alshaikhi, Elaf Yahia Faraj Alnasser   +1 more
doaj   +1 more source

School Resources and Student Outcomes: An Overview of the Literature and New Evidence from North and South Carolina [PDF]

This paper reviews and interprets the literature on the effect of school resources on students' eventual earnings and educational attainment. In addition, new evidence is presented on the impact of the great disparity in school resources between black ...
Alan Krueger, David Card
core  

GNE: a deep learning framework for gene network inference by aggregating biological information [PDF]

, 2019
Kishan KC, Rui Li, Feng Cui, Qi Yu, Anne R. Haake   +4 more
openalex   +1 more source

Patronin-mediated minus end growth is required for dendritic microtubule polarity. [PDF]

, 2019
Microtubule minus ends are thought to be stable in cells. Surprisingly, in Drosophila and zebrafish neurons, we observed persistent minus end growth, with runs lasting over 10 min.
Albertson, Richard M, Feng, Chengye, Goetschius, Daniel J, Rao, Kavitha S, Rolls, Melissa M, Sagasti, Alvaro, Seebold, Dylan Y, Shorey, Matthew, Thyagarajan, Pankajam, Weiner, Alexis T   +9 more
core   +1 more source

Genetic Analysis of HIBM Myopathy-Specific GNE V727M Hotspot Mutation Identifies a Novel COL6A3 Allied Gene Signature That Is Also Deregulated in Multiple Neuromuscular Diseases and Myopathies [PDF]

, 2023
Shivangi Attri, Moien Rasheed Lone, Amit Katiyar, Vikas Sharma, Vinay Kumar, Chaitenya Verma, Suresh Kumar Gahlawat   +6 more
openalex   +1 more source

Pathway landscape and regulatory networks of epigenetically modified Breast Cancer genes [PDF]

Epigenetic changes are a key regulator of gene expression in different cancer histotypes. After investigating the differentially expressed genes upon treatment with a demethylating agent, e.g.
Capobianco, Enrico, Cinti, Caterina, El Baroudi, Mariama, La Sala, Dario   +3 more
core  

Mutation analysis of the GNE gene in Korean patients with distal myopathy with rimmed vacuoles [PDF]

, 2005
Byoung Joon Kim, Chang‐Seok Ki, Jong‐Won Kim, Duk Hyun Sung, Young‐Chul Choi, Seung Hyun Kim   +5 more
openalex   +1 more source

Geotechnical evaluation of rocks and soils in Catoca kimberlitic mining complex (Angola) [PDF]

, 2012
Landslides and rock sliding occur very frequently in the mining area of Catoca, located in Angola. Therefore, a physical/mechanical and geotechnical characterization of the massif and the rock matrix was carried out adopting the landslide classifications
Domingos M. Dos Santos Neves-Margarida, Rafael Guardado-Lacaba   +1 more
core  

Genetic spectrum among 2009 Iranian individuals with neuromuscular disorders using next generation sequencing and multiple ligation dependent probe amplification methods

Scientific Reports
Hereditary neuromuscular disorders (NMDs) are clinically and genetically heterogeneous, with variable severity and onset from birth to adulthood. This study retrospectively analyzes genetic findings in 2009 Iranian individuals with suspected NMDs over 11
Negar Molaei, Parnian Alagha, Ali Khanbazi, Maryam Beheshtian, Fatemeh Ahangari, Shima Dehdahsi, Mahsa Fadaee, Mehri Ashki, Zhila Ghaderi, Zohreh Elahi, Raheleh Vazehan, Elham Parsimehr, Maryam Mozaffarpour Nouri, Parishad Saei, Khadijeh Noudehi, Fatemeh Fatehi, Shima Zamanian Najafabadi, Ayda Abolhassani, Fariba Afroozan, Hilda Yazdan, Masoumeh Akbari Kelishomi, Maryam Azad, Farshid Parvini, Seyed Mehrdad Kassaee, Mahtab Ramezani, Fariba Zemorshidi, Houman Salimipour, Siamak Abdi, MohammadKazem Bakhshandeh, Afshin Fayyazi, Gholamreza Zamani, Mahmoud Reza Ashrafi, Payman Jamali, Payam Sarraf, Ali Asghar Okhovat, Bahram Haghi Ashtiani, Farzad Fatehi, Parvaneh Karimzadeh, Shahriar Nafissi, Kimia Kahrizi, Ariana Kariminejad, Hossein Najmabadi   +41 more
doaj   +1 more source

Nonlinear Waves with a Magnetic Field in the Cosmic Plasma [PDF]

Solution of two fluid magnetohydrodynamic equations as nonlinear ionic waves providing mechanism for cosmic rays generation and for plasma penetration of ...
Gintsburg, M. A.
core   +1 more source