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Amal A Alotaibi, Mary Anne W Cordero Basic Science Department, College of Medicine, Princess Nourah Bint Abdulrahman University, Riyadh, 11671, Kingdom of Saudi ArabiaCorrespondence: Mary Anne W CorderoBasic Science Department, College of Medicine ...
Alotaibi AA, Cordero MAW
doaj
Clinical genetics: Medical genetics [PDF]
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
The early history of medical genetics in Canada [PDF]
This article shows that the intellectual and specialist movements that supported the growth of medical genetics in Canada between 1947 and 1990 were emergent phenomena, created, split, and reattached to different groups of actors, and reconfigured ...
Leeming, William
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The Prader-Willi syndrome (PWS) and the Angelman syndrome (AS) are human neurogenetic disorders involving the imprinting mechanism, at the 15q11-13 chromosome region.
João M. de Pina-Neto +5 more
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Increasing confidence and changing behaviors in primary care providers engaged in genetic counselling. [PDF]
BackgroundScreening and counseling for genetic conditions is an increasingly important part of primary care practice, particularly given the paucity of genetic counselors in the United States.
A Cull +42 more
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External quality assessment of molecular biology-based methods used in laboratories of clinical chemistry and human genetics [PDF]
The Reference Institute of Bioanalysis of the German Society of Clinical Chemistry has performed the first external assessment of molecular genetics methods used in medical diagnosis.
Braun, Andreas +6 more
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Com base em entrevista com José Carlos Cabral de Almeida, o artigo aborda a investigação que culminou no estabelecimento da etiologia genética da síndrome de Turner.
Monica de Paula Jung +3 more
doaj +1 more source
Dermatology continues to develop at a steady pace. In the past few years there have been exciting advances in our understanding of skin structure and function in health and disease and progress in genetics, epidemiology, immunology, pharmacology and ...
Boffa, Michael J.
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Cis and Trans Effects of Human Genomic Variants on Gene Expression [PDF]
This work was funded by the Louis-Jeantet Foundation (http://www.jeantet.ch/), the European Research Council (Grant ID: 260927 http://erc.europa.eu/), the Swiss National Foundation (Grant ID: 130342 http://www.snf.ch), NCCR Frontiers In Genetics (http ...
A Boyd +53 more
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ABSTRACT Background Pediatric patients with extracranial solid tumors (ST) receiving chemotherapy are at an increased risk for Pneumocystis jirovecii pneumonia (PJP). However, evidence guiding prophylaxis practices in this population is limited. A PJP‐related fatality at our institution highlighted inconsistent prescribing approaches and concerns about
Kriti Kumar +8 more
wiley +1 more source

