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Clinical genetics: Medical genetics [PDF]

European Journal of Human Genetics, 2006
In these last years, there has been a proliferation of new textbooks and of new editions of classical textbooks on medical genetics targeted at medical students. However, these books are all over 400 pages with increasingly complex explanations of new discoveries and concepts.
openaire   +1 more source

Dimensional phenotype measurement in children with rare genetic conditions: new insights into the aetiology of neurodevelopmental and psychiatric disorders

Frontiers in Psychiatry
Rare neurodevelopmental genetic conditions (NGCs) present with diverse and complex phenotypic manifestations, often resulting in a range of clinical and cognitive difficulties that cut across traditional, categorically defined neurodevelopmental and ...
SJRA Chawner, LC Chetcuti, LC Chetcuti, EK Spackman, M Uljarevic   +4 more
doaj   +1 more source

Genetics and Ethics: “Do not Go Alone”!

Hungarian Studies Yearbook, 2019
In his article “Genetics and ethics: ‘Do not go alone’”! András Falus presents genomics as a network science triggering an entirely new trend in contemporary biology.
Falus András
doaj   +1 more source

Counting Oceanians of Non-European, Non-Asian Descent (ONENA) in the South Pacific to Make Them Count in Global Health

Tropical Medicine and Infectious Disease, 2019
Several diseases and vulnerabilities associated with genetic or microbial factors are more frequent among populations of Oceanian, Non-European, Non-Asian descent (ONENA). ONENA are specific and have long been isolated geographically.
Arnaud Tarantola, Paul F. Horwood, Cyrille Goarant, Bertrand Buffière, Solène Bertrand, Onofre Edwin A. Merilles, Thierry Pedron, Elise Klement-Frutos, Philippe Sansonetti, Lluis Quintana-Murci, Vincent Richard   +10 more
doaj   +1 more source

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
doaj  

Intramuscular Vitamin B12 Treatment in Transcobalamin II Deficiency: Case Series Clinical Outcomes

The Application of Clinical Genetics
Ali M Sawlan,1 Msaed Alotaibi,1 Rayan M Alharbi,1 Nimr A Alwahbi,1 Manar Alshammary,2 Ali Mohammad Alasmari,2 Fuad Al Mutairi3,4 1College of Medicine, King Saud bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs (MNG ...
Sawlan AM, Alotaibi M, Alharbi RM, Alwahbi NA, Alshammary M, Alasmari AM, Al Mutairi F   +6 more
doaj  

Implementation of molecular karyotyping in clinical genetics

Zdravniški Vestnik, 2013
Rapid development of technologies for the study of the human genome is an expected step after the discovery and sequencing of the entire human genome.
Luca Lovrecic, Borut Peterlin
doaj  

Eating behaviour and eating disorders in individuals with rare neurodevelopmental variants: current knowledge and future research directions

Frontiers in Psychiatry
Rare neurodevelopmental copy number variants (ND-CNVs) have been implicated in a range of psychiatric and neurodevelopmental conditions. Despite their known association with a range of behavioural outcomes, the role of ND-CNVs in eating disorders and ...
Samuel J. R. A. Chawner
doaj   +1 more source

Co‐occurrence of breast cancer and neuroendocrine tumours: New genetic insights beyond Multiple Endocrine Neoplasia syndromes

Endocrinology, Diabetes & Metabolism, 2019
Objective Age‐standardized incidence of female breast cancer is 145.1 per 100000/year and 5.86 per 100000/year for neuroendocrine tumours (NET) in Canada. Evidence is scarce about gene variants that may predispose patients to develop both neoplasms.
Vincent Larouche, Amit Akirov, Emily Thain, Raymond H. Kim, Shereen Ezzat   +4 more
doaj   +1 more source

Identifying knowledge deficiencies in genetics education among medical students and interns in Saudi Arabia- A cross-sectional study

BMC Medical Education
Background Understanding genetics is crucial for medical students, particularly in Saudi Arabia, where genetic disorders are prevalent owing to high rates of consanguineous marriages.
Abeer F. Zakariyah, Sadin A. Alamri, Manal M. Alzahrani, Aseel A. Alamri, Muhammad A. Khan, Mehenaz A. Hanbazazh   +5 more
doaj   +1 more source