×
Close
註冊
登入
主页
用户
博客
照片
视频
医学图书S馆
医学图书M馆
医学图书D馆
医学术语
群组
活动
用户工具
用户指南
问答
谁看过我
反馈
语言
English
中文
推广
×
Close
CN1699 Our Business - Guide for Agents
分类
Genetics & Heredity
16987
Global Medical University
6001
Allergy
1877
Anatomy & Morphology
1668
Andrology
414
Anesthesia & Intensive Care
1391
Anesthesiology
6165
Audiology & Speech-Language Pathology
355
Behavioral Sciences
111
Biochemical Research Methods
7954
Biochemistry & Molecular Biology
33458
Biodiversity Conservation
356
Biology
9716
Biophysics
10524
Biotechnology & Applied Microbiology
9505
Cardiac & Cardiovascular Systems
34774
Cardiovascular & Respiratory Systems
1633
Cell & Tissue Engineering
754
Cell Biology
12044
Chemistry, Analytical
4624
Chemistry, Applied
12544
Chemistry, Medicinal
9461
Chemistry, Multidisciplinary
20614
Clinical Immunology & Infectious Disease
483
Clinical Medicine
9573
Clinical Neurology
18166
Clinical Psychology & Psychiatry
1662
Critical Care Medicine
3617
Dentistry, Oral Surgery & Medicine
15087
Dermatology
7978
Developmental Biology
7534
Ecology
654
Education, Scientific Disciplines
2156
Emergency Medicine
4633
Endocrinology, Metabolism & Nutrition
27536
Engineering, Biomedical
4099
Entomology
471
Environmental Medicine & Public Health
5362
Evolutionary Biology
285
Gastroenterology & Hepatology
13492
General & Internal Medicine
7839
Geriatrics & Gerontology
5553
Gerontology
363
Health Care Sciences & Services
17893
Health Policy & Services
658
Hematology
5914
Immunology
28683
Infectious Diseases
15477
Integrative & Complementary Medicine
3188
Medical Ethics
1285
Medical Informatics
2631
Medical Laboratory Technology
433
Medicine, General & Internal
49403
Medicine, Legal
581
Medicine, Research & Experimental
20519
Microbiology
26611
Mycology
0
Nanoscience & Nanotechnology
5901
Neuroimaging
1477
Neurology
5186
Neurosciences
45245
Nursing
10448
Nutrition & Dietetics
8498
Obstetrics & Gynecology
9182
Oncology
58654
Ophthalmology
11110
Optics
5122
Orthopedics
12853
Orthopedics, Rehabilitation & Sports Medicine
2024
Otolaryngology
1665
Otorhinolaryngology
5347
Parasitology
1140
Pathology
5471
Pediatrics
23925
Peripheral Vascular Disease
5200
Pharmacology & Pharmacy
40197
Pharmacology/Toxicology
14001
Physiology
9762
Polymer Science
663
Primary Health Care
903
Psychiatry
22750
Psychology
5620
Psychology, Applied
110
Psychology, Biological
388
Psychology, Clinical
885
Psychology, Developmental
233
Psychology, Educational
149
Psychology, Experimental
147
Psychology, Mathematical
0
Psychology, Multidisciplinary
1687
Psychology, Psychoanalysis
41
Psychology, Social
121
Public Health & Health Care Science
2402
Public, Environmental & Occupational Health
30449
Quantum Science & Technology
0
Radiology, Nuclear Medicine & Imaging
13887
Radiology, Nuclear Medicine & Medical Imaging
8658
Rehabilitation
3221
Remote Sensing
0
Reproductive Biology
3269
Reproductive Medicine
1325
Research/Laboratory Medicine & Medical Technology
4446
Respiratory System
8072
Rheumatology
6647
Social Sciences, Biomedical
1307
Substance Abuse
2960
Surgery
38068
Toxicology
4661
Transplantation
949
Tropical Medicine
314
Urology & Nephrology
14651
Veterinary Sciences
35
Virology
2633
Zoology
0
渠道
NPJ GENOMIC MEDICINE
205
Genetics
5
NEJM Genetics
3
Medrxiv - Genetic And Genomic Medicine
2237
CANCER GENE THERAPY
449
CHROMOSOMA
73
CLINICAL GENETICS
118
CURRENT GENETICS
111
CURRENT OPINION IN GENETICS & DEVELOPMENT
282
EPIGENETICS & CHROMATIN
145
EPIGENOMICS
22
EPILEPSIA
211
FRONTIERS IN GENETICS
6039
GENE THERAPY
195
GENETICS IN MEDICINE
104
GENOME MEDICINE
377
GENOMICS PROTEOMICS & BIOINFORMATICS
215
HUMAN GENETICS
393
HUMAN MUTATION
121
JOURNAL OF HUMAN GENETICS
323
JOURNAL OF MEDICAL GENETICS
462
NATURE REVIEWS GENETICS
378
ORPHANET JOURNAL OF RARE DISEASES
977
ANNALS OF HUMAN GENETICS
24
CYTOGENETIC AND GENOME RESEARCH
97
G3-GENES GENOMES GENETICS
19
GENETIC EPIDEMIOLOGY
30
HUMAN GENOMICS
290
HUMAN HEREDITY
33
INTERNATIONAL JOURNAL OF IMMUNOGENETICS
23
JOURNAL OF EVOLUTIONARY BIOLOGY
120
JOURNAL OF GENETIC COUNSELING
152
PSYCHIATRIC GENETICS
137
EGYPTIAN JOURNAL OF MEDICAL HUMAN GENETICS
338
FORENSIC SCIENCE INTERNATIONAL GENETICS SUPPLEMENT SERIES
17
GENETICS AND MOLECULAR RESEARCH
21
GLOBAL MEDICAL GENETICS
144
INTERNATIONAL JOURNAL OF NEONATAL SCREENING
89
JOURNAL OF COMMUNITY GENETICS
189
NON-CODING RNA
125
FUNCTIONAL & INTEGRATIVE GENOMICS
573
GENETICA
98
IMMUNOGENETICS
131
JOURNAL OF APPLIED GENETICS
250
JOURNAL OF GENETICS
186
RUSSIAN JOURNAL OF GENETICS
456
SCI时时刷
search
全部
推荐
+
Rare variants at KCNJ2 are associated with LDL-cholesterol levels in a cross-population study
Leveraging whole genome sequencing data of 1751 individuals from the UK and 2587 Qatari subjects, we suggest here an assoc...
Npj Genomic Medicine
comment
0
thumb_up
0
Structure and transcription of integrated HPV DNA in vulvar carcinomas
HPV infections are associated with a fraction of vulvar cancers. Through hybridization capture and DNA sequencing, HPV DNA...
Npj Genomic Medicine
comment
0
thumb_up
0
An efficient molecular genetic testing strategy for incontinentia pigmenti based on single-tube long fragment read sequencing
Incontinentia pigmenti (IP) is a rare X-linked dominant neuroectodermal dysplasia that primarily affects females. The only...
Npj Genomic Medicine
comment
0
thumb_up
0
Analysis of cell free DNA to predict outcome to bevacizumab therapy in colorectal cancer patients
To predict outcome to combination bevacizumab (BVZ) therapy, we employed cell-free DNA (cfDNA) to determine chromosomal in...
Npj Genomic Medicine
comment
0
thumb_up
0
Structure-based network analysis predicts pathogenic variants in human proteins associated with inherited retinal disease
Advances in gene sequencing technologies have accelerated the identification of genetic variants, but better tools are nee...
Npj Genomic Medicine
comment
0
thumb_up
0
Evaluating the utility of multi-gene, multi-disease population-based panel testing accounting for uncertainty in penetrance estimates
Panel germline testing allows for the efficient detection of deleterious variants for multiple conditions, but the benefit...
Npj Genomic Medicine
comment
0
thumb_up
0
Reply to: Pitfalls in the genetic testing of the OPN1LW-OPN1MW gene cluster in human subjects
replying to Wissinger, B. npj Genomic Medicine https://doi.org/10.1038/s41525-024-00406-y (2024)We re...
Npj Genomic Medicine
comment
0
thumb_up
0
Pitfalls in the genetic testing of the OPN1LW-OPN1MW gene cluster in human subjects
arising from Haer-Wigman, L. et al. npj Genomic Medicine https://doi.org/10.1038/s41525-022-00334-9 (...
Npj Genomic Medicine
comment
0
thumb_up
0
Consensus reporting guidelines to address gaps in descriptions of ultra-rare genetic conditions
Genome-wide sequencing and genetic matchmaker services are propelling a new era of genotype-driven ascertainment of novel ...
Npj Genomic Medicine
comment
0
thumb_up
0
Strategies to improve implementation of cascade testing in hereditary cancer syndromes: a systematic review
Hereditary cancer syndromes constitute approximately 10% of all cancers. Cascade testing involves testing of at-risk relat...
Npj Genomic Medicine
comment
0
thumb_up
0
Future implications of polygenic risk scores for life insurance underwriting
Tiller, J., Otlowski, M. & Lacaze, P. Should Australia ban the use of genetic test results in life insurance? Front. P...
Npj Genomic Medicine
comment
0
thumb_up
0
Advancing access to genome sequencing for rare genetic disorders: recent progress and call to action
Despite these advancements, only a small fraction of the population is covered for GS, and such testing is largely inacces...
Npj Genomic Medicine
comment
0
thumb_up
0
Genomic and clinical characterization of a familial GIST kindred intolerant to imatinib
Familial gastrointestinal stromal tumors (GIST) are rare. We present a kindred with multiple family members affected with ...
Npj Genomic Medicine
comment
0
thumb_up
0
Expanding the clinical spectrum of biglycan-related Meester-Loeys syndrome
Pathogenic loss-of-function variants in BGN, an X-linked gene encoding biglycan, are associated with Meester-Loeys syndrom...
Npj Genomic Medicine
comment
0
thumb_up
0
Genomic analysis of 116 autism families strengthens known risk genes and highlights promising candidates
Autism spectrum disorder (ASD) is a complex neurodevelopmental condition with a strong genetic component in which rare var...
Npj Genomic Medicine
comment
0
thumb_up
0
Genomes in clinical care
In the era of precision medicine, genome sequencing (GS) has become more affordable and the importance of genomics and mul...
Npj Genomic Medicine
comment
0
thumb_up
0
Genome-wide association analyses of ovarian cancer patients undergoing primary debulking surgery identify candidate genes for residual disease
Survival from ovarian cancer depends on the resection status after primary surgery. We performed genome-wide association a...
Npj Genomic Medicine
comment
0
thumb_up
0
Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies
CELSR3 codes for a planar cell polarity protein. We describe twelve affected individuals from eleven independent families ...
Npj Genomic Medicine
comment
0
thumb_up
0
Rapid genomic sequencing for genetic disease diagnosis and therapy in intensive care units: a review
Single locus (Mendelian) diseases are a leading cause of childhood hospitalization, intensive care unit (ICU) admission, m...
Npj Genomic Medicine
comment
0
thumb_up
0
DNA and RNA base editors can correct the majority of pathogenic single nucleotide variants
The majority of human genetic diseases are caused by single nucleotide variants (SNVs) in the genome sequence. Excitingly,...
Npj Genomic Medicine
comment
0
thumb_up
0
Evidence review and considerations for use of first line genome sequencing to diagnose rare genetic disorders
Early use of genome sequencing (GS) in the diagnostic odyssey can reduce suffering and improve care, but questions remain ...
Npj Genomic Medicine
comment
0
thumb_up
0
A call for increased inclusivity and global representation in pharmacogenetic testing
Commercial pharmacogenetic testing panels capture a fraction of the genetic variation underlying medication metabolism and...
Npj Genomic Medicine
comment
0
thumb_up
0
Single cell-transcriptomic analysis informs the lncRNA landscape in metastatic castration resistant prostate cancer
Metastatic castration-resistant prostate cancer (mCRPC) is a lethal form of prostate cancer. Although long-noncoding RNAs ...
Npj Genomic Medicine
comment
0
thumb_up
0
Assessing the efficacy of target adaptive sampling long-read sequencing through hereditary cancer patient genomes
Innovations in sequencing technology have led to the discovery of novel mutations that cause inherited diseases. However, ...
Npj Genomic Medicine
comment
0
thumb_up
0
Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population
Next-generation sequencing (NGS) has been proven to be one of the most powerful diagnostic tools for rare Mendelian disord...
Npj Genomic Medicine
comment
0
thumb_up
0
Eliciting parental preferences and values for the return of additional findings from genomic sequencing
Health economic evidence is needed to inform the design of high-value and cost-effective processes for returning genomic r...
Npj Genomic Medicine
comment
0
thumb_up
0
Germline mutations of 4567 patients with hereditary breast-ovarian cancer spectrum in Thailand
Multi-gene panel testing has led to the detection of pathogenic/likely pathogenic (P/LP) variants in many cancer susceptib...
Npj Genomic Medicine
comment
0
thumb_up
0
A cost-effective sequencing method for genetic studies combining high-depth whole exome and low-depth whole genome
Whole genome sequencing (WGS) at high-depth (30X) allows the accurate discovery of variants in the coding and non-coding D...
Npj Genomic Medicine
comment
0
thumb_up
0
Divergent immune microenvironments in two tumor nodules from a patient with mismatch repair-deficient prostate cancer
Patients with prostate cancer (PC) generally do not respond favorably to immune checkpoint inhibitors, which may be due to...
Npj Genomic Medicine
comment
0
thumb_up
0
Whole genome sequencing enables new genetic diagnosis for inherited retinal diseases by identifying pathogenic variants
Inherited retinal diseases (IRDs) are a group of common primary retinal degenerative disorders. Conventional genetic testi...
Npj Genomic Medicine
comment
0
thumb_up
0
阅读更多
Modal title
×
Modal title
×
分享
登入
Global News and Health Forum
Join Now!
馬上登入
記住我
忘記密碼?
或者使用
Linkedin