Results 21 to 30 of about 10,831,444 (295)
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
The Genetics of Parkinson’s Disease and Implications for Clinical Practice
Genes, 2021 The genetic landscape of Parkinson’s disease (PD) is characterised by rare high penetrance pathogenic variants causing familial disease, genetic risk factor variants driving PD risk in a significant minority in PD cases and high frequency, low penetrance
Jacob O Day, S. Mullin
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The 2019 US medical genetics workforce: a focus on clinical genetics
Genetics in Medicine, 2021 This study characterizes the US clinical genetics workforce to inform workforce planning and public policy development. A 32-question survey was electronically distributed to American Board of Medical Genetics and Genomics board-certified/eligible ...
Brittany D. Jenkins +12 more
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Journal of Inherited Metabolic Disease, 2019 Riboflavin transporter deficiency (RTD) is a rare neurological condition that encompasses the Brown‐Vialetto‐Van Laere and Fazio‐Londe syndromes since the discovery of pathogenic mutations in the SLC52A2 and SLC52A3 genes that encode human riboflavin ...
B. O’Callaghan, A. Bosch, H. Houlden
semanticscholar +1 more source
New variants of ABCA12 in harlequin ichthyosis baby
Journal of Pediatric and Neonatal Individualized Medicine, 2018 Harlequin ichthyosis (HI) is an extremely rare genetic skin disorder and the most severe form of a group of disorders, which includes lamellar ichthyosis and congenital ichthyosiform erythroderma.
Sara Peixoto +5 more
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Advances in clinical genetics and genomics
Intelligent Medicine, 2021 Developments in genetics and genomics are progressing at an unprecedented speed. Twenty years ago, the human genome project provided the first glimpses into the human genome sequence and launched a new era of human genetics.
Sen Zhao +6 more
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Complexities of Clinical Genetics Consultation: An Interprofessional Clinical Skills Workshop
MedEdPORTAL, 2020 Introduction Advances in genomic medicine contribute to increased demand for clinical genetics services and require physicians to understand the interprofessional practice of this field.
Jodi D. Hoffman +3 more
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Ebstein's Anomaly: Genetics, Clinical Manifestations, and Management.
Pediatrics and Neonatology, 2017 Ebstein's anomaly is uncommon. Genetic bases of this congenital heart defect may be related to the mutations in myosin heavy chain 7 and NKX2.5, among others. Asymptomatic patients with Ebstein's anomaly can be conservatively treated and kept under close
S. Yuan
semanticscholar +1 more source
A Review of the Giant Protein Titin in Clinical Molecular Diagnostics of Cardiomyopathies
Frontiers in Cardiovascular Medicine, 2016 Titin (TTN) is known as the largest sarcomeric protein that resides within the heart muscle. Due to alternative splicing of TTN the heart expresses two major isoforms (N2B and N2BA) that incorporate four distinct regions termed the Z-line, I-band, A-band,
Marta Gigli +9 more
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circIFNGR2 regulating ankylosing spondylitis-associated inflammation through macrophage polarization
iScience, 2023 Summary: Macrophages activation is crucial in pathogenesis of rheumatic diseases like ankylosing spondylitis (AS). Circular RNAs (circRNAs)-induced macrophage-associated inflammation participates in many autoimmune diseases but remains elusive in AS ...
Minkai Song +11 more
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