Results 61 to 70 of about 443,633 (293)

Organic Selection and Social Heredity: The Original Baldwin Effect Revisited [PDF]

, 2019
The so-called “Baldwin Effect” has been studied for years in the fields of Artificial Life, Cognitive Science, and Evolutionary Theory across disciplines.
Le, Nam
core  

Quantitative Iron Measurements in the Basal Ganglia of NBIA Patients Using QSM: Insights From a Tertiary Center

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Neurodegeneration with brain iron accumulation (NBIA) comprises rare genetic disorders characterized by predominantly extrapyramidal symptoms and iron deposition in the basal ganglia. Conventional magnetic resonance imaging (MRI) detects qualitative changes but cannot accurately quantify iron accumulation. Quantitative susceptibility
Özge Uygun, Alpay Özcan, Fuat Kaan Aras, Evrim Bozdemir, Sibel Uğur İşeri, Koray Kırımtay, Arzu Karabay, Murat Gültekin, Nihan Hande Akçakaya, Orkhan Mammadov, Gülay Kır, Dilek İnce Günal, Neşe Tuncer, Fatma Betül Özdilek, Banu Özen Barut, Ercan Köse, Hülya Apaydın, Asuman Ali, Sultan Çağırıcı, Pınar Topaloğlu, Alp Dinçer, Zuhal Yapıcı   +21 more
wiley   +1 more source

THE URGENCY OF GENETIC VERIFICATION OF NON-COMPACTION CARDIOMYOPATHY IN CHILDREN: CLINICAL CASES

Вопросы современной педиатрии, 2018
Background. Non-compaction cardiomyopathy is a group of genetically heterogeneous, poorly studied myocardial diseases with a variety of clinical manifestations (from asymptomatic course to progressive systolic dysfunction with symptoms of chronic heart ...
Nataliya A. Sdvigova, Elena N. Basargina, Dmitry V. Ryabtsev, Kirill V. Savostyanov, Alexander A. Pushkov, Natalia V. Zhurkova, Grigory V. Revunenkov, Olga P. Zharova   +7 more
doaj   +1 more source

Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases

Genome Medicine, 2021
Background Clinical interpretation of genetic variants in the context of the patient’s phenotype is becoming the largest component of cost and time expenditure for genome-based diagnosis of rare genetic diseases.
Francisco M. De La Vega, Shimul Chowdhury, Barry Moore, Erwin Frise, Jeanette McCarthy, Edgar Javier Hernandez, Terence Wong, Kiely James, Lucia Guidugli, Pankaj B. Agrawal, Casie A. Genetti, Catherine A. Brownstein, Alan H. Beggs, Britt-Sabina Löscher, Andre Franke, Braden Boone, Shawn E. Levy, Katrin Õunap, Sander Pajusalu, Matt Huentelman, Keri Ramsey, Marcus Naymik, Vinodh Narayanan, Narayanan Veeraraghavan, Paul Billings, Martin G. Reese, Mark Yandell, Stephen F. Kingsmore   +27 more
doaj   +1 more source

Kevlar: A Mapping-Free Framework for Accurate Discovery of De Novo Variants. [PDF]

, 2019
De novo genetic variants are an important source of causative variation in complex genetic disorders. Many methods for variant discovery rely on mapping reads to a reference genome, detecting numerous inherited variants irrelevant to the phenotype of ...
Brown, C Titus, Hormozdiari, Fereydoun, Standage, Daniel S   +2 more
core   +1 more source

Expanding Hereditary Spastic Paraplegias Limits: Biallelic SPAST Variants in Cerebral Palsy Mimics

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hereditary spastic paraplegias (HSP) are rare neurodegenerative disorders marked by spasticity and lower limb weakness. The most common type, SPG4, is usually autosomal dominant and caused by SPAST gene variants, typically presenting as pure HSP.
Gregorio A. Nolasco, Mònica Roldán, Yalda Jamshidi, Ioannis Georvasilis, Rocío Jadraque Rodríguez, Reza Boostani, Ali Shoeibi, Lluís Armengol, Anna Codina, Ehsan Ghayoor Karimiani, Cristina Hernando‐Davalillo, Loreto Martorell, María Luisa Ramírez Almaraz, Jordi Muchart, Carlos Ortez, Andrés Nascimento, Roser Urreizti, Daniel Natera‐de Benito, Mercedes Serrano   +18 more
wiley   +1 more source

PERFORMING GONADECTOMY IN A 15-YEAR-OLD BULGARIAN GIRL WITH COMPLETE ANDROGEN INSENSITIVITY SYNDROME: A CASE REPORT [PDF]

Journal of IMAB
Complete Androgen Insensitivity Syndrome (CAIS) is a rare genetic Disorder of Sex Development linked to the X chromosome. It occurs due to mutations—either from mother inheritance or arising spontaneously—in the androgen receptor (AR) gene, located in ...
Diana Hristova, Radko Tocev, Krassimir Neykov, Ibryam Ibryam, Sergei Slavov, Smail Smail   +5 more
doaj   +1 more source

Myths and Legends of the Baldwin Effect [PDF]

, 1996
This position paper argues that the Baldwin effect is widely misunderstood by the evolutionary computation community. The misunderstandings appear to fall into two general categories.
Turney, Peter
core   +3 more sources

Consolidate Overview of Ribonucleic Acid Molecular Dynamics: From Molecular Movements to Material Innovations

Advanced Engineering Materials, EarlyView.
Molecular dynamics simulations are advancing the study of ribonucleic acid (RNA) and RNA‐conjugated molecules. These developments include improvements in force fields, long‐timescale dynamics, and coarse‐grained models, addressing limitations and refining methods.
Kanchan Yadav, Iksoo Jang, Jong Bum Lee
wiley   +1 more source

The Application of the Second Generation Non-Dominated Sorting Genetic Algorithm in Multi-Project Human Resource Scheduling Management

IEEE Access
With the development of the national economy, a large number of small and medium-sized enterprises have rapidly expanded in scale, and their internal structures have become increasingly complex. Traditional single project management is no longer suitable
Rui Zhao, Zhenhua Lei, Ziyu Zhao
doaj   +1 more source