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External quality assessment of molecular biology-based methods used in laboratories of clinical chemistry and human genetics [PDF]
, 1998 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
core +1 more source
Arquivos de Neuro-Psiquiatria, 1997 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
doaj +1 more source
The early history of medical genetics in Canada [PDF]
, 2004 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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História, Ciências, Saúde: Manguinhos, 2009 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
, 2004 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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Pediatric Blood &Cancer, EarlyView.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
Medical genetics consultation [PDF]
, 2011 Medical genetics have three components: clinical, chromosomal and molecular The role of this clinical-biological discipline is to diagnose genetic diseases, participate in the management of patients, offer genetic counselling to family members concerning
D. Bonneau
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The Overlap between Headache and Epilepsy in the Light of Recent Advances in Medical Genetics [PDF]
, 2014 Not ...
A. Ferretti +2 more
core +1 more source
Sickle Cell Disease Is an Inherent Risk for Asthma in a Sibling Comparison Study
Pediatric Blood &Cancer, EarlyView.ABSTRACT Introduction Sickle cell disease (SCD) and asthma share a complex relationship. Although estimates vary, asthma prevalence in children with SCD is believed to be comparable to or higher than the general population. Determining whether SCD confers an increased risk for asthma remains challenging due to overlapping symptoms and the ...
Suhei C. Zuleta De Bernardis +9 more
wiley +1 more source