×
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
15852
Global Medical University
5503
Allergy
1827
Anatomy & Morphology
1598
Andrology
414
Anesthesia & Intensive Care
1337
Anesthesiology
5810
Audiology & Speech-Language Pathology
335
Behavioral Sciences
104
Biochemical Research Methods
7356
Biochemistry & Molecular Biology
31234
Biodiversity Conservation
334
Biology
8902
Biophysics
9257
Biotechnology & Applied Microbiology
8814
Cardiac & Cardiovascular Systems
32833
Cardiovascular & Respiratory Systems
1493
Cell & Tissue Engineering
699
Cell Biology
11363
Chemistry, Analytical
4393
Chemistry, Applied
11818
Chemistry, Medicinal
8916
Chemistry, Multidisciplinary
19556
Clinical Immunology & Infectious Disease
456
Clinical Medicine
9103
Clinical Neurology
17186
Clinical Psychology & Psychiatry
1485
Critical Care Medicine
3416
Dentistry, Oral Surgery & Medicine
13929
Dermatology
7771
Developmental Biology
7252
Ecology
645
Education, Scientific Disciplines
2004
Emergency Medicine
4339
Endocrinology, Metabolism & Nutrition
25591
Engineering, Biomedical
3780
Entomology
449
Environmental Medicine & Public Health
4967
Evolutionary Biology
267
Gastroenterology & Hepatology
12623
General & Internal Medicine
7423
Geriatrics & Gerontology
5229
Gerontology
349
Health Care Sciences & Services
16734
Health Policy & Services
613
Hematology
5667
Immunology
26778
Infectious Diseases
14576
Integrative & Complementary Medicine
2951
Medical Ethics
1208
Medical Informatics
2350
Medical Laboratory Technology
433
Medicine, General & Internal
46864
Medicine, Legal
534
Medicine, Research & Experimental
19014
Microbiology
24672
Mycology
0
Nanoscience & Nanotechnology
5462
Neuroimaging
1381
Neurology
4778
Neurosciences
42135
Nursing
9873
Nutrition & Dietetics
8153
Obstetrics & Gynecology
8650
Oncology
55172
Ophthalmology
10332
Optics
4521
Orthopedics
12109
Orthopedics, Rehabilitation & Sports Medicine
1856
Otolaryngology
1573
Otorhinolaryngology
5128
Parasitology
1077
Pathology
5154
Pediatrics
22569
Peripheral Vascular Disease
4856
Pharmacology & Pharmacy
36944
Pharmacology/Toxicology
13056
Physiology
9339
Polymer Science
597
Primary Health Care
853
Psychiatry
20872
Psychology
5330
Psychology, Applied
93
Psychology, Biological
352
Psychology, Clinical
829
Psychology, Developmental
222
Psychology, Educational
137
Psychology, Experimental
133
Psychology, Mathematical
0
Psychology, Multidisciplinary
1624
Psychology, Psychoanalysis
41
Psychology, Social
116
Public Health & Health Care Science
2308
Public, Environmental & Occupational Health
28699
Quantum Science & Technology
0
Radiology, Nuclear Medicine & Imaging
12978
Radiology, Nuclear Medicine & Medical Imaging
8098
Rehabilitation
3074
Remote Sensing
0
Reproductive Biology
3025
Reproductive Medicine
1241
Research/Laboratory Medicine & Medical Technology
4173
Respiratory System
7585
Rheumatology
6241
Social Sciences, Biomedical
1238
Substance Abuse
2813
Surgery
35641
Toxicology
4428
Transplantation
933
Tropical Medicine
314
Urology & Nephrology
13704
Veterinary Sciences
35
Virology
2489
Zoology
0
渠道
HUMAN GENETICS
374
Genetics
5
NEJM Genetics
3
Medrxiv - Genetic And Genomic Medicine
1980
CANCER GENE THERAPY
412
CHROMOSOMA
69
CLINICAL GENETICS
118
CURRENT GENETICS
106
CURRENT OPINION IN GENETICS & DEVELOPMENT
256
EPIGENETICS & CHROMATIN
133
EPIGENOMICS
22
EPILEPSIA
211
FRONTIERS IN GENETICS
5723
GENE THERAPY
187
GENETICS IN MEDICINE
104
GENOME MEDICINE
341
GENOMICS PROTEOMICS & BIOINFORMATICS
211
HUMAN MUTATION
121
JOURNAL OF HUMAN GENETICS
301
JOURNAL OF MEDICAL GENETICS
424
NATURE REVIEWS GENETICS
344
NPJ GENOMIC MEDICINE
194
ORPHANET JOURNAL OF RARE DISEASES
890
ANNALS OF HUMAN GENETICS
24
CYTOGENETIC AND GENOME RESEARCH
97
G3-GENES GENOMES GENETICS
19
GENETIC EPIDEMIOLOGY
30
HUMAN GENOMICS
253
HUMAN HEREDITY
33
INTERNATIONAL JOURNAL OF IMMUNOGENETICS
23
JOURNAL OF EVOLUTIONARY BIOLOGY
120
JOURNAL OF GENETIC COUNSELING
152
PSYCHIATRIC GENETICS
135
EGYPTIAN JOURNAL OF MEDICAL HUMAN GENETICS
309
FORENSIC SCIENCE INTERNATIONAL GENETICS SUPPLEMENT SERIES
17
GENETICS AND MOLECULAR RESEARCH
10
GLOBAL MEDICAL GENETICS
133
INTERNATIONAL JOURNAL OF NEONATAL SCREENING
89
JOURNAL OF COMMUNITY GENETICS
179
NON-CODING RNA
125
FUNCTIONAL & INTEGRATIVE GENOMICS
547
GENETICA
93
IMMUNOGENETICS
124
JOURNAL OF APPLIED GENETICS
225
JOURNAL OF GENETICS
180
RUSSIAN JOURNAL OF GENETICS
406
SCI时时刷
search
全部
推荐
+
Heterozygous loss-of-function variants in DOCK4 cause neurodevelopmental delay and microcephaly
Neurons form the basic anatomical and functional structure of the nervous system, and defects in neuronal differentiation ...
Human Genetics
comment
0
thumb_up
0
The crucial prognostic signaling pathways of pancreatic ductal adenocarcinoma were identified by single-cell and bulk RNA sequencing data
Pancreatic ductal adenocarcinoma (PDAC) is a malignant tumor with poor prognosis and high mortality. Although a large numb...
Human Genetics
comment
0
thumb_up
0
An overload of missense variants in the OTOG gene may drive a higher prevalence of familial Meniere disease in the European population
Meniere disease is a complex inner ear disorder with significant familial aggregation. A differential prevalence of famili...
Human Genetics
comment
0
thumb_up
0
An AI-based approach driven by genotypes and phenotypes to uplift the diagnostic yield of genetic diseases
Identifying disease-causing variants in Rare Disease patients’ genome is a challenging problem. To accomplish this t...
Human Genetics
comment
0
thumb_up
0
Biallelic variants in GTF3C5, a regulator of RNA polymerase III-mediated transcription, cause a multisystem developmental disorder
General transcription factor IIIC subunit 5 (GTF3C5) encodes transcription factor IIIC63 (TFIIIC63). It binds to DNA to re...
Human Genetics
comment
0
thumb_up
0
Genome-wide analyses reveal the regulatory roles of DNA methylation-regulated alternative promoter transcripts in breast cancer
A certain proportion of genes are regulated by multiple, distinct promoters, revealing a dynamic landscape of the cancer t...
Human Genetics
comment
0
thumb_up
0
The association between DNA methylation and human height and a prospective model of DNA methylation-based height prediction
As a vital anthropometric characteristic, human height information not only helps to understand overall developmental stat...
Human Genetics
comment
0
thumb_up
0
A novel 193-plex MPS panel integrating STRs and SNPs highlights the application value of forensic genetics in individual identification and paternity testing
Massively parallel sequencing (MPS) has emerged as a promising technology for targeting multiple genetic loci simultaneous...
Human Genetics
comment
0
thumb_up
0
Integrative regulation of hLMR1 by dietary and genetic factors in nonalcoholic fatty liver disease and hyperlipidemia
Long non-coding RNA (lncRNA) genes represent a large class of transcripts that are widely expressed across species. As mos...
Human Genetics
comment
0
thumb_up
0
Novel compound heterozygous variants in FANCI cause premature ovarian insufficiency
Premature ovarian insufficiency (POI) is a common reproductive aging disorder due to a dramatic decline of ovarian functio...
Human Genetics
comment
0
thumb_up
0
PdmIRD: missense variants pathogenicity prediction for inherited retinal diseases in a disease-specific manner
Accurate discrimination of pathogenic and nonpathogenic variation remains an enormous challenge in clinical genetic testin...
Human Genetics
comment
0
thumb_up
0
STEAP3 promotes colon cancer cell proliferation and migration via regulating histone acetylation
Colorectal cancer (CRC) is the third most prevalent diagnosed cancer in men and second most prevalent cancer in women. H3K...
Human Genetics
comment
0
thumb_up
0
Clinical and genetic architecture of a large cohort with auditory neuropathy
Auditory neuropathy (AN) is a unique type of language developmental disorder, with no precise rate of genetic contribution...
Human Genetics
comment
0
thumb_up
0
PKHD1L1, a gene involved in the stereocilia coat, causes autosomal recessive nonsyndromic hearing loss
Identification of genes associated with nonsyndromic hearing loss is a crucial endeavor given the substantial number of in...
Human Genetics
comment
0
thumb_up
0
Trisomy silencing by XIST: translational prospects and challenges
XIST RNA is heavily studied for its role in fundamental epigenetics and X-chromosome inactivation; however, the translatio...
Human Genetics
comment
0
thumb_up
0
Identification and functional analysis of rare HECTD1 missense variants in human neural tube defects
Neural tube defects (NTDs) are severe malformations of the central nervous system that arise from failure of neural tube c...
Human Genetics
comment
0
thumb_up
0
Heterozygous MAP3K20 variants cause ectodermal dysplasia, craniosynostosis, sensorineural hearing loss, and limb anomalies
Biallelic pathogenic variants in MAP3K20, which encodes a mitogen-activated protein kinase, are a rare cause of split-hand...
Human Genetics
comment
0
thumb_up
0
Functional categorization of gene regulatory variants that cause Mendelian conditions
Much of our current understanding of rare human diseases is driven by coding genetic variants. However, non-coding genetic...
Human Genetics
comment
0
thumb_up
0
The relationship between extreme inter-individual variation in macrophage gene expression and genetic susceptibility to inflammatory bowel disease
The differentiation of resident intestinal macrophages from blood monocytes depends upon signals from the macrophage colon...
Human Genetics
comment
0
thumb_up
0
Novel genotype–phenotype correlations, differential cerebellar allele-specific methylation, and a common origin of the (ATTTC)n insertion in spinocerebellar ataxia type 37
Spinocerebellar ataxia subtype 37 (SCA37) is a rare disease originally identified in ataxia patients from the Iberian Peni...
Human Genetics
comment
0
thumb_up
0
Bayesian network-based Mendelian randomization for variant prioritization and phenotypic causal inference
Mendelian randomization is a powerful method for inferring causal relationships. However, obtaining suitable genetic instr...
Human Genetics
comment
0
thumb_up
0
Identification of TACSTD2 as novel therapeutic targets for cisplatin-induced acute kidney injury by multi-omics data integration
Cisplatin-induced acute kidney injury (CP-AKI) is a common complication in cancer patients. Although ferroptosis is believ...
Human Genetics
comment
0
thumb_up
0
Whole exome sequencing and polygenic assessment of a Swedish cohort with severe developmental language disorder
Developmental language disorder (DLD) overlaps clinically, genetically, and pathologically with other neurodevelopmental d...
Human Genetics
comment
0
thumb_up
0
Miscarriage risk assessment: a bioinformatic approach to identifying candidate lethal genes and variants
Miscarriage, often resulting from a variety of genetic factors, is a common pregnancy outcome. Preconception genetic carri...
Human Genetics
comment
0
thumb_up
0
Screening copy number variations in 35 unsolved inherited retinal disease families
The purpose of this study was to screen Copy Number Variations (CNVs) in 35 unsolved Inherited Retinal Dystrophy (IRD) fam...
Human Genetics
comment
0
thumb_up
0
The pivotal role of long non-coding RNAs as potential biomarkers and modulators of chemoresistance in ovarian cancer (OC)
Ovarian cancer (OC) is a fatal gynecological disease that is often diagnosed at later stages due to its asymptomatic natur...
Human Genetics
comment
0
thumb_up
0
Expansion of the complex genotypic and phenotypic spectrum of FGFR2-associated neurocutaneous syndromes
The fibroblast growth factor receptors comprise a family of related but individually distinct tyrosine kinase receptors. W...
Human Genetics
comment
0
thumb_up
0
Vitamin D-binding protein deficiency: an underrecognized Mendelian disorder of vitamin D metabolism
Vitamin D-binding protein (VDBP) deficiency is a recently discovered apparently benign biochemical disorder that can masqu...
Human Genetics
comment
0
thumb_up
0
Bi-allelic missense variants in MEI4 cause preimplantation embryonic arrest and female infertility
Preimplantation embryonic arrest is an important pathogenesis of female infertility, but little is known about the genetic...
Human Genetics
comment
0
thumb_up
0
Exploring the effects of missense mutations on protein thermodynamics through structure-based approaches: findings from the CAGI6 challenges
Missense mutations are known contributors to diverse genetic disorders, due to their subtle, single amino acid changes imp...
Human Genetics
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