Results 11 to 20 of about 754,623 (244)

Medical genetics teaching in Iranian medical schools, especially Ahvaz, south of Iran

Journal of Advances in Medical Education and Professionalism, 2014
Introduction: Physicians have to visit, diagnose and refer patients with genetic disorders, so they need to be familiar with the basics and indications of genetic tests.
MAHDI BIJANZADEH
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Double heterozygous mutation in RAD50 and ATM genes in a Peruvian family with five cancer types: a case report

Revista de la Facultad de Ciencias Médicas de Córdoba, 2022
Introduction: Cancer is the second leading cause of death worldwide, with 70% of cancer deaths occurring in low- or middle- income countries. To mitigate the mortality of this disease, it is recommended the evaluation of multiple high-penetrance genes.
Enrique Eduardo Sánchez Castro, Gonzalo Ziegler-Rodriguez, María del Carmen Castro Mujica   +2 more
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Genetic resources and genetic technologies for the development of the Northern Territories: on the results of the Second Conference (March 13–15, 2023)

Биотехнология и селекция растений, 2023
A series of events in honor of the centenary of the Polar Experiment Station of VIR founded by Nikolay Ivanovich Vavilov, was opened by the Second Scientific Conference “Genetic Resources and Genetic Technologies for the Development of Northern ...
E. K. Khlestkina, Yu. V. Ukhatova, L. Yu. Shipilina, A. A. Zavarzin   +3 more
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Immune-mediated genesis of multiple sclerosis

Journal of Translational Autoimmunity, 2020
Multiple sclerosis (MS) is widely acknowledged to be an autoimmune disease affecting the neuronal myelin structure of the CNS. Autoantigens recognized as the target of this autoimmune process are: myelin basal protein, anti-proteolipid protein ...
Salvatore Cavallo, MD, Specialist in Medical Genetics
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Modern Medical Genetics and Genomics [PDF]

, 2019
The field of medical genetics and genomics has been constantly revolutionized by new breakthroughs, which bring more knowledge into the etiology and help improve the health care of individuals with either rare or common diseases.

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Solving inherited white matter disorder etiologies in the neurology clinic: Challenges and lessons learned using next-generation sequencing

Frontiers in Neurology, 2023
IntroductionRare neurodevelopmental disorders, including inherited white matter disorders or leukodystrophies, often present a diagnostic challenge on a genetic level given the large number of causal genes associated with a range of disease subtypes ...
Stefanie Perrier, Stefanie Perrier, Kether Guerrero, Kether Guerrero, Luan T. Tran, Luan T. Tran, Mackenzie A. Michell-Robinson, Mackenzie A. Michell-Robinson, Geneviève Legault, Geneviève Legault, Geneviève Legault, Bernard Brais, Bernard Brais, Bernard Brais, Michel Sylvain, James Dorman, James Dorman, Michelle Demos, Wolfgang Köhler, Tomi Pastinen, Tomi Pastinen, Isabelle Thiffault, Isabelle Thiffault, Isabelle Thiffault, Geneviève Bernard, Geneviève Bernard, Geneviève Bernard, Geneviève Bernard, Geneviève Bernard   +28 more
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Discovery of TBX20 as a Novel Gene Underlying Atrial Fibrillation

Biology, 2023
Atrial fibrillation (AF), the most prevalent type of sustained cardiac dysrhythmia globally, confers strikingly enhanced risks for cognitive dysfunction, stroke, chronic cardiac failure, and sudden cardiovascular demise.
Ning Li, Yan-Jie Li, Xiao-Juan Guo, Shao-Hui Wu, Wei-Feng Jiang, Dao-Liang Zhang, Kun-Wei Wang, Li Li, Yu-Min Sun, Ying-Jia Xu, Yi-Qing Yang, Xing-Biao Qiu   +11 more
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The effects of low protein products availability on growth parameters and metabolic control in selected amino acid metabolism disorders patients

International Journal of Pediatrics & Adolescent Medicine, 2018
Background: In Saudi Arabia, a diet for life policy has been adopted in the management of amino acid metabolism disorders for years. However, the specially designed low protein products/medical foods - which are one of the important treatment tools ...
Handoom Bedour Metabolic Dietitian, Megdad Eman Metabolic Dietitian, Al-Qasabi Dana Metabolic Dietitian, Al Mesned Munirah Metabolic Dietitian, Hawary Reem Intensive Care Dietitian, Al-Nufiee Samir Consultant Medical Genetics, Al-Hassnan Zuhair Consultant Medical Genetics, Alsayed Moeenaldeen Dia Chairman, Consultant Medical Genetics, Eldali Abdelmoneim Technical Specialist   +8 more
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The European Society of Human Genetics-Young committee- activities and achievements between 2019-2022

, 2023
The European Society of Human Genetics-Young Committee (ESHG-Y) aims to support young human geneticists by developing strategies and programs for better education and creating a strong network in all European countries.
Avram, Elena, da Silva, Ana Raquel Gouveia Freitas, Tonini, Francesca, Committee, European Society of Human Genetics-Young, Săbău, Ileana Delia, Kalantari, Silvia, Cerqueira, Juliana Xavier de Miranda, de Miranda Cerqueira, Juliana Xavier, Dore, Rhys, Ding, Can, Noor, Nuru, Mroczek, Magdalena, -, -, Johari, Mridul, Sabau, Ileana-Delia, Barbosa-Matos, Rita   +15 more
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Genealogical data in population medical genetics: field guidelines

Genetics and Molecular Biology, 2014
This is a guide for fieldwork in Population Medical Genetics research projects. Data collection, handling, and analysis from large pedigrees require the use of specific tools and methods not widely familiar to human geneticists, unfortunately leading to ...
Fernando A. Poletta, Ieda M. Orioli, Eduardo E. Castilla   +2 more
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