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Clinical genetics
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Clinical and genetic characteristics of children with Alagille syndrome in Children’s Hospital No. 1
Alagille syndrome is an autosomal dominant disorder that affects many various organs. Objectives: Determining the prevalence of clinical and genetic characteristics of children with Alagille syndrome in Children’s Hospital No.1.
7p
viwalton
29-06-2024
1
1
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There is an aberrant expression of NBAT-1 in various human cancers, which was proven to limit the proliferation, invasion, and metastasis of tumour cells via multiple approaches. Most existing research focuses on sample size and discrete outcomes. Thus, a quantitative meta-analysis was performed to elucidate the prognostic value of lncRNA NBAT-1 expression in cancer patients.
12p
vishanshan
27-06-2024
2
1
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Hepatocellular carcinoma (HCC) genomic research has discovered actionable genetic changes that might guide treatment decisions and clinical trials. Nonetheless, due to a lack of large-scale multicenter clinical validation, these putative targets have not been converted into patient survival advantages.
12p
vikoch
27-06-2024
1
1
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Part 1 book "Clinical manual of emergency pediatrics (5/E)" includes contents: Resuscitation, allergic emergencies, cardiac emergencies, dental emergencies, dermatologic emergencies, ent emergencies, endocrine emergencies, environmental emergencies, gastrointestinal emergencies, emergencies associated with genetic syndromes, genitourinary emergencies, gynecologic emergencies, hematologic emergencies, infectious disease emergencies.
449p
dianmotminh01
14-05-2024
2
0
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Part 1 book Dermatology - An illustrated colour text" includes content: Microanatomy of the skin; derivatives of the skin; physiology of the skin; biochemistry of the skin; inflammation, immunity and theskin; molecular genetics and the skin; terminology of skin lesions; taking a history; examining the skin; practical clinic procedures.
129p
zizaybay1101
30-04-2024
2
2
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Ebook "Trends in stem cell biology and technology" highlight both of these aspects: that of understanding the “actual” and that of developing the “possible. ” In recognition of the growing excitement and potential of stem cells as models for both the advancement of basic science and future clinical applications, I felt it timely to edit this book in which forefront investigators would provide new findings for the use of stem cells to study various lineages and tissue types and some applications.
420p
ladongphongthanh1008
22-04-2024
5
2
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Ebook "CFTR and cystic fibrosis: From structure to function" is devoted to the CFTR protein and cystic fibrosis, and it provides an updated perspective of the genetic, functional and cellular processes involved in this conformational disorder. Starting with a historical perspective on cystic fibrosis and its clinical features, the author departs into an in-depth description of the biology of the CFTR protein, ending with a discussion on the latest approaches aimed at developing corrective therapies for cystic fibrosis.
70p
tracanhphuonghoa1007
22-04-2024
3
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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Large-sequencing cancer genome projects have shown that tumors have thousands of molecular alterations and their frequency is highly heterogeneous. In such scenarios, physicians and oncologists routinely face lists of cancer genomic alterations where only a minority of them are relevant biomarkers to drive clinical decisionmaking.
11p
vibransone
28-03-2024
4
2
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The genetic and immunological factors that contribute to differences in susceptibility and progression between sub-types of inflammatory and autoimmune diseases continue to be elucidated. Inflammatory bowel disease and juvenile idiopathic arthritis are both clinically heterogeneous and known to be due in part to abnormal regulation of gene activity in diverse immune cell types.
16p
vibransone
28-03-2024
2
2
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Although large-scale, next-generation sequencing (NGS) studies of cancers hold promise for enabling precision oncology, challenges remain in integrating NGS with clinically validated biomarkers. To overcome such challenges, we utilized the Database of Evidence for Precision Oncology (DEPO) to link druggability to genomic, transcriptomic, and proteomic biomarkers.
20p
vibransone
28-03-2024
3
2
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Chlamydia trachomatis (Ct) is the most common infectious cause of blindness and bacterial sexually transmitted infection worldwide. Ct strain-specific differences in clinical trachoma suggest that genetic polymorphisms in Ct may contribute to the observed variability in severity of clinical disease.
19p
vibransone
28-03-2024
3
2
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Somatic genetic testing is rapidly becoming the standard of care in many adult and pediatric cancers. Previously, the standard approach was single-gene or focused multigene testing, but many centers have moved towards broad-based next-generation sequencing (NGS) panels.
14p
vibransone
28-03-2024
4
2
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Diagnosis of primary immunodeficiencies (PIDs) is complex and cumbersome yet important for the clinical management of the disease. Exome sequencing may provide a genetic diagnosis in a significant number of patients in a single genetic test.
15p
vibransone
28-03-2024
2
2
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A multi-disciplinary approach to promote engagement, inform decision-making and support clinicians and patients is increasingly advocated to realise the potential of genome-scale sequencing in the clinic for patient benefit. Here we describe the results of establishing a genomic medicine multi-disciplinary team (GM-MDT) for case selection, processing, interpretation and return of results.
12p
vibransone
28-03-2024
2
2
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Clinical laboratories implement a variety of measures to classify somatic sequence variants and identify clinically significant variants to facilitate the implementation of precision medicine. To standardize the interpretation process.
14p
vibransone
28-03-2024
1
1
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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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Gastric cancer is among the most lethal human malignancies. Previous studies have identified molecular aberrations that constitute dynamic biological networks and genomic complexities of gastric tumors. However, the clinical translation of molecular-guided targeted therapy is hampered by challenges. Notably, solid tumors often harbor multiple genetic alterations, complicating the development of effective treatments.
12p
vibransone
28-03-2024
6
2
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