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Medical genetics
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Challenges in colorectal cancer provides the most up-to-date information on the new and emerging treatments. The second edition looks at the total patient management of this condition and is aimed at the entire medical team caring for those with colorectal cancer. It also contains the latest guidelines on epidemiology and prevention of colorectal cancer, and the application of molecular genetics.
295p
vimeyers
29-05-2024
2
2
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Updating researchers on phenomenal progress in the field of molecular medicine the Encyclopedia of Medical Genomics and Proteomics offers trail-blazing studies and authoritative contributions from more than 400 specialists. Topics include: Molecular diagnostics; Genomics, microbiology, genetics, and pharmacogenetics; Management of infectious, neoplastic, and genetic diseases;...
1391p
vimeyers
29-05-2024
3
2
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Part 1 book "Medical microbiology" includes content: The science of microbiology, cell structure, classification of bacteria, cultivation of microorganisms, microbial metabolism, microbial genetics, pathogenesis of bacterial infection, normal human microbiota, pseudomonads and acinetobacter, vibrio, campylobacter, and helicobacter.
410p
zizaybay1101
30-04-2024
2
2
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Part 1 book "Review of medical microbiology and immunology" includes content: Bacteria compared with other microorganisms; structure of bacterial cells; growth; genetics; classification of medically important bacteria; normal flora; pathogenesis; host defenses; laboratory diagnosis; antimicrobial drugs - mechanism of action; antimicrobial drugs - resistance; bacterial vaccines; sterilization & disinfection.
419p
zizaybay1101
30-04-2024
3
2
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Ebook "Sensing in nature" is to provide a picture, as complete as possible, of the current state of knowledge of sensory systems in nature. The presentation in this book lies at the intersection of evolutionary biology, cell and molecular biology, physiology and genetics. Sensing in Nature is written by a distinguished panel of specialists and is intended to be read by biologists, students, scientific investigators and the medical community.
334p
tracanhphuonghoa1007
22-04-2024
4
2
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Part 1 book "Essentials of internal medicine" includes content: Internal medicine in the 21st century—best practice, best outcomes; evidence based medicine and critical appraisal of the literature; ethics; clinical pharmacology and toxicology; genetics; medical imaging for internists; pulmonology; cardiology; hypertension; nephrology; endocrinology; gastroenterology.
394p
muasambanhan10
11-04-2024
2
1
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Prior research has established that the prevalence of pathogenic/likely pathogenic (P/LP) variants across all of the American College of Medical Genetics (ACMG) Secondary Findings (SF) genes is approximately 0.8–5%. We investigated the prevalence of P/LP variants in the 24 ACMG SF v2.0 cancer genes in a family-based cancer research cohort (n = 1173) and in cancer-free ethnicity-matched controls (n = 982).
9p
vibransone
28-03-2024
3
2
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The 2015 American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology (AMP) guidelines for clinical sequence variant interpretation state that “well-established” functional studies can be used as evidence in variant classification.
19p
vibransone
28-03-2024
3
1
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The American College of Medical Genetics and Genomics (ACMG)/Association for Molecular Pathology (AMP) clinical variant interpretation guidelines established criteria for different types of evidence. This includes the strong evidence codes PS3 and BS3 for “well-established” functional assays demonstrating a variant has abnormal or normal gene/protein function, respectively.
12p
vibransone
28-03-2024
3
2
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Variants of uncertain significance represent a massive challenge to medical genetics. Multiplexed functional assays, in which the functional effects of thousands of genomic variants are assessed simultaneously, are increasingly generating data that can be used as additional evidence for or against variant pathogenicity.
11p
vibransone
28-03-2024
2
2
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Whole-exome sequencing (WES) has become an efficient diagnostic test for patients with likely monogenic conditions such as rare idiopathic diseases or sudden unexplained death. Yet, many cases remain undiagnosed. Here, we report the added diagnostic yield achieved for 101 WES cases re-analyzed 1 to 7 years after initial analysis.
8p
vibransone
28-03-2024
3
2
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Cystic fibrosis is the most common autosomal recessive genetic disease in Caucasians. It is caused by mutations in the CFTR gene, leading to poor hydration of mucus and impairment of the respiratory, digestive, and reproductive organ functions. Advancements in medical care have led to markedly increased longevity of patients with cystic fibrosis, but new complications have emerged, such as early onset of colorectal cancer.
15p
vibransone
28-03-2024
2
2
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Clinical genetics laboratories have recently adopted guidelines for the interpretation of sequence variants set by the American College of Medical Genetics (ACMG) and Association for Molecular Pathology (AMP). The use of in silico algorithms to predict whether amino acid substitutions result in human disease is inconsistent across clinical laboratories.
3p
vioraclene
31-03-2024
3
2
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The success of the clinical use of sequencing based tests (from single gene to genomes) depends on the accuracy and consistency of variant interpretation. Aiming to improve the interpretation process through practice guidelines, the American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology (AMP) have published standards and guidelines for the interpretation of sequence variants.
9p
vioraclene
31-03-2024
6
2
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Ebook "Chemical diagnostics: From bench to bedside" is concluded with the case of successful applications in the medical field. By using few drops of blood, newborn screening can identify babies with various genetic diseases soon after birth. Mass spectrometry has played a key role in metabolomics diagnostics in the clinics, allowing unambiguous identification of metabolites and their isoforms. Quantification at high precision can be achieved through various approaches.
204p
tudohanhtau1006
29-03-2024
4
1
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Changes in medical practice are needed to improve the diagnosis of monogenic forms of selected common diseases. This article seeks to focus attention on the need for universal genetic testing in common diseases for which the recommended clinical management of patients with specific monogenic forms of disease diverges from standard management and has evidence for improved outcomes.
10p
viellison
28-03-2024
4
2
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The uptake of exome/genome sequencing has introduced unexpected testing results (incidental findings) that have become a major challenge for both testing laboratories and providers. While the American College of Medical Genetics and Genomics has outlined guidelines for laboratory management of clinically actionable secondary findings, debate remains as to whether incidental findings should be returned to patients, especially those representing pediatric populations.
17p
viellison
28-03-2024
4
2
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In medical genetics, discovery and characterization of disease trait contributory genes and alleles depends on genetic reasoning, study design, and patient ascertainment; we suggest a segmental haploid genetics approach to enhance gene discovery and molecular diagnostics.
24p
viellison
28-03-2024
3
2
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Ebook "Extracellular nucleic acids (Nucleic acids and molecular biology, Volume 25)" covers nearly all of the newly developing fields related to extracellular nucleic acids, including those of basic biology, ecology and the medical sciences, and provides readers with the latest knowledge on them. Extracellular nucleic acids have recently emerged as important players in the fields of biology and the medical sciences.
239p
cotieubac1004
15-03-2024
0
0
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Part 1 book "Medical-Surgical nursing critical thinking for person centred care" includes contents: Dimensions of medical–surgical nursing, alterations in patterns of health, pathophysiology and patterns of health, responses to altered integumentary structure and function.
607p
muasambanhan09
16-03-2024
2
0
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