Results 61 to 70 of about 97,979 (304)

A 10-year retrospective study on the prevalence and biometric characteristics of high myopia in Chinese cataract surgery candidates

Scientific Reports
To evaluate the prevalence of high myopia in Chinese cataract surgery candidates and analyse their biometric characteristics, we conducted a 10-year retrospective consecutive case series of 17,325 cataract patients (22,479 eyes) classified by axial ...
Yehui Tan, Yi Shao, Liangping Liu, Zhonggang Pei, Mengying Peng, Yuanyuan Wu, Yifang Xu, Xuan Zhou, Xiaoyu Wang   +8 more
doaj   +1 more source

Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Malan syndrome is an ultra‐rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (NFIX) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients.
Alex F. Nisbet, Sylvie A. Adams, Zoe S. Katz, Christal G. Delagrammatikas, Kosuke Izumi, Winifred Sigal, Kim Ventarola, Elaine H. Zackai, Julia E. Reid, Grant T. Liu, Jennifer M. Kalish   +10 more
wiley   +1 more source

Pakistan’s Nuclear Weapons Program and Implications for US National Security. [PDF]

, 2010
This article analyzes Pakistan’s nuclear weapons program and the characteristics of the environment in which the program is nested. These characteristics include Pakistan’s history of internal and external instability; nuclear saber rattling during ...
Tkacik, Michael
core   +2 more sources

Extraocular Muscle Imbalance and Outcomes of Scleral Buckling Surgery for Primary Rhegmatogenous Retinal Detachment [PDF]

, 2020
Objective: The objective was to study the muscle imbalance, restrictive motility in unlike gazes and the outcomes of the scleral buckling surgery for rhegmatogenous retinal detachment.
Kawish, A. B. (Ayesha), Nawaz, S. (Sadia), Tahir, Q. (Qandeel)   +2 more
core   +1 more source

Clinical, Behavioral and Neuroradiological Phenotype in an Italian Cohort of Patients With Xia Gibbs Syndrome: A Multicenter Cross‐Sectional Study and Systematic Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous variants in the AHDC1 gene are associated with Xia Gibbs Syndrome (XGS), a genetic disorder with a highly variable phenotype. Cognitive impairment, motor delay, language delay, neonatal hypotonia, and sleep apnea are considered “cardinal” signs of the disease.
Giulia Cinelli, Stefania Della Vecchia, Patrizia Bergonzini, Elisa Caramaschi, Elisabetta Spezia, Claudia Parenti, Simona Filomena Madeo, Laura Lucaccioni, Cavalleri Francesca, Marisa Pugliese, Federico Raviglione, Clara Colonna, Olga Calabrese, Ilaria Stanghellini, Maria Carmen Marongiu, Enrico Biagioni, Anna Rita Ferrari, Roberta Battini, Lorenzo Iughetti   +18 more
wiley   +1 more source

The Homozygous p.(Arg215Ter) Variant in XRCC2 Is Associated With Atypical Fanconi Anemia Without Major Hematological Abnormalities in Childhood

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Fanconi Anemia (FA) is the most frequent inherited bone marrow failure syndrome. A role for the XRCC2 gene in FA was suspected in 2012 and confirmed in 2016, but only two affected individuals have been described thus far, and no long‐term follow‐up is available.
Sabina Cenciarelli, Giulia Bruna Marchetti, Maria Iascone, Maria Grazia Patricelli, Sara Giangiobbe, Gabriella Cinzia Pozzobon, Miriam Nella Savini, Fabio Giglio, Alessandro Aiuti, Paola Carrera, Francesca Ferrua, Angela Peron   +11 more
wiley   +1 more source

Prevalence of myopia and vision impairment in school students in Eastern China

BMC Ophthalmology, 2020
Background Prevention of myopia has become a public health priority in China. This study is to investigate the prevalence of myopia and vision impairment, and their associated factors in school students in eastern China.
Jianyong Wang, Gui-shuang Ying, Xiaojin Fu, Ronghua Zhang, Jia Meng, Fang Gu, Juanjuan Li   +6 more
doaj   +1 more source

Twist Engineering of Hybrid 2D van der Waals‐Transition Metal Oxide Membranes

Advanced Physics Research, EarlyView.
The integration of transition metal oxide membranes with 2D van der Waals materials offers exciting opportunities to study new interfacial phenomena. These interactions can create complex moiré patterns that change the materials' properties. Understanding these interactions, influenced by symmetry and distortion, poses significant challenges and ...
Mar Garcia Hernandez, Peter Bøggild, Mads Brandbyge, Jacobo Santamaria, Nini Pryds   +4 more
wiley   +1 more source

AC and AG Dinucleotide Repeats in the PAX6 P1 Promoter are Associated with High Myopia [PDF]

, 2011
Purpose: The PAX6 gene, located at the reported myopia locus MYP7 on chromosome 11p13, was postulated to be associated with myopia development. This study investigated the association of PAX6 with high myopia in 379 high myopia patients and 349 controls.
Chiang, Sylvia Wai Yee, Fan, Baojian, Fan, Dorothy Shu Ping, Lam, Ching Yan, Lam, Dennis Shun Chiu, Ng, Tsz Kin, Pang, Chi Pui, Tam, Pancy Oi Sin, Wang, Danyi, Yam, Gary Hin-Fai   +9 more
core  

Risk‐aware safe reinforcement learning for control of stochastic linear systems

Asian Journal of Control, EarlyView.
Abstract This paper presents a risk‐aware safe reinforcement learning (RL) control design for stochastic discrete‐time linear systems. Rather than using a safety certifier to myopically intervene with the RL controller, a risk‐informed safe controller is also learned besides the RL controller, and the RL and safe controllers are combined together ...
Babak Esmaeili, Nariman Niknejad, Hamidreza Modares   +2 more
wiley   +1 more source