×
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
13615
Global Medical University
4538
Allergy
1700
Anatomy & Morphology
1452
Andrology
414
Anesthesia & Intensive Care
1078
Anesthesiology
4982
Audiology & Speech-Language Pathology
311
Behavioral Sciences
100
Biochemical Research Methods
6154
Biochemistry & Molecular Biology
27279
Biodiversity Conservation
255
Biology
7468
Biophysics
7334
Biotechnology & Applied Microbiology
7470
Cardiac & Cardiovascular Systems
28711
Cardiovascular & Respiratory Systems
1295
Cell & Tissue Engineering
596
Cell Biology
10183
Chemistry, Analytical
3943
Chemistry, Applied
10441
Chemistry, Medicinal
8031
Chemistry, Multidisciplinary
17594
Clinical Immunology & Infectious Disease
397
Clinical Medicine
8395
Clinical Neurology
15078
Clinical Psychology & Psychiatry
1151
Critical Care Medicine
2865
Dentistry, Oral Surgery & Medicine
11853
Dermatology
7388
Developmental Biology
6544
Ecology
627
Education, Scientific Disciplines
1712
Emergency Medicine
3607
Endocrinology, Metabolism & Nutrition
21673
Engineering, Biomedical
3288
Entomology
392
Environmental Medicine & Public Health
4301
Evolutionary Biology
232
Gastroenterology & Hepatology
10835
General & Internal Medicine
6445
Geriatrics & Gerontology
4644
Gerontology
314
Health Care Sciences & Services
14294
Health Policy & Services
542
Hematology
5119
Immunology
23010
Infectious Diseases
12703
Integrative & Complementary Medicine
2481
Medical Ethics
1029
Medical Informatics
1879
Medical Laboratory Technology
433
Medicine, General & Internal
41848
Medicine, Legal
434
Medicine, Research & Experimental
16163
Microbiology
21165
Mycology
0
Nanoscience & Nanotechnology
4608
Neuroimaging
1134
Neurology
4008
Neurosciences
35916
Nursing
8517
Nutrition & Dietetics
7465
Obstetrics & Gynecology
7491
Oncology
48380
Ophthalmology
8696
Optics
3624
Orthopedics
10349
Orthopedics, Rehabilitation & Sports Medicine
1579
Otolaryngology
1406
Otorhinolaryngology
4486
Parasitology
946
Pathology
4481
Pediatrics
19601
Peripheral Vascular Disease
4219
Pharmacology & Pharmacy
31011
Pharmacology/Toxicology
11323
Physiology
8462
Polymer Science
496
Primary Health Care
738
Psychiatry
17350
Psychology
4647
Psychology, Applied
74
Psychology, Biological
296
Psychology, Clinical
711
Psychology, Developmental
204
Psychology, Educational
116
Psychology, Experimental
103
Psychology, Mathematical
0
Psychology, Multidisciplinary
1473
Psychology, Psychoanalysis
41
Psychology, Social
101
Public Health & Health Care Science
2073
Public, Environmental & Occupational Health
25455
Quantum Science & Technology
0
Radiology, Nuclear Medicine & Imaging
11036
Radiology, Nuclear Medicine & Medical Imaging
7267
Rehabilitation
2798
Remote Sensing
0
Reproductive Biology
2518
Reproductive Medicine
1059
Research/Laboratory Medicine & Medical Technology
3589
Respiratory System
6480
Rheumatology
5245
Social Sciences, Biomedical
1110
Substance Abuse
2492
Surgery
30641
Toxicology
3980
Transplantation
878
Tropical Medicine
314
Urology & Nephrology
11747
Veterinary Sciences
35
Virology
2236
Zoology
0
渠道
HUMAN GENETICS
311
Genetics
5
NEJM Genetics
3
Medrxiv - Genetic And Genomic Medicine
1542
CANCER GENE THERAPY
322
CHROMOSOMA
62
CLINICAL GENETICS
118
CURRENT GENETICS
98
CURRENT OPINION IN GENETICS & DEVELOPMENT
210
EPIGENETICS & CHROMATIN
108
EPIGENOMICS
22
EPILEPSIA
211
FRONTIERS IN GENETICS
5215
GENE THERAPY
153
GENETICS IN MEDICINE
104
GENOME MEDICINE
273
GENOMICS PROTEOMICS & BIOINFORMATICS
198
HUMAN MUTATION
121
JOURNAL OF HUMAN GENETICS
252
JOURNAL OF MEDICAL GENETICS
343
NATURE REVIEWS GENETICS
280
NPJ GENOMIC MEDICINE
157
ORPHANET JOURNAL OF RARE DISEASES
719
ANNALS OF HUMAN GENETICS
24
CYTOGENETIC AND GENOME RESEARCH
97
G3-GENES GENOMES GENETICS
19
GENETIC EPIDEMIOLOGY
30
HUMAN GENOMICS
196
HUMAN HEREDITY
33
INTERNATIONAL JOURNAL OF IMMUNOGENETICS
23
JOURNAL OF EVOLUTIONARY BIOLOGY
120
JOURNAL OF GENETIC COUNSELING
152
PSYCHIATRIC GENETICS
120
EGYPTIAN JOURNAL OF MEDICAL HUMAN GENETICS
244
FORENSIC SCIENCE INTERNATIONAL GENETICS SUPPLEMENT SERIES
17
GENETICS AND MOLECULAR RESEARCH
10
GLOBAL MEDICAL GENETICS
102
INTERNATIONAL JOURNAL OF NEONATAL SCREENING
89
JOURNAL OF COMMUNITY GENETICS
151
NON-CODING RNA
125
FUNCTIONAL & INTEGRATIVE GENOMICS
442
GENETICA
83
IMMUNOGENETICS
108
JOURNAL OF APPLIED GENETICS
164
JOURNAL OF GENETICS
159
RUSSIAN JOURNAL OF GENETICS
280
SCI时时刷
search
全部
推荐
+
Frequency of actionable secondary findings in 7472 Korean genomes derived from the National Project of Bio Big Data pilot study
Exome and genome sequencing (ES/GS) in genetic medicine and research leads to discovering genomic secondary findings (SFs)...
Human Genetics
comment
0
thumb_up
0
The natural history, clinical outcomes, and genotype–phenotype relationship of otoferlin-related hearing loss: a systematic, quantitative literature review
Congenital hearing loss affects one in 500 newborns. Sequence variations in OTOF, which encodes the calcium-binding protei...
Human Genetics
comment
0
thumb_up
0
Rare variant modifier analysis identifies variants in SEC24D associated with orofacial cleft subtypes
As one of the most common structural birth defects, orofacial clefts (OFCs) have been studied for decades, and recent stud...
Human Genetics
comment
0
thumb_up
0
CHD7 variants associated with hearing loss and enlargement of the vestibular aqueduct
Enlargement of the endolymphatic sac, duct, and vestibular aqueduct (EVA) is the most common inner ear malformation identi...
Human Genetics
comment
0
thumb_up
0
Dyslexia-related loci are significantly associated with language and literacy in Chinese–English bilingual Hong Kong Chinese twins
A recent genome-wide association study on dyslexia in 51,800 affected European adults and 1,087,070 controls detected 42 g...
Human Genetics
comment
0
thumb_up
0
A founder DBR1 variant causes a lethal form of congenital ichthyosis
DBR1 encodes the only known human lariat debranching enzyme and its deficiency has been found to cause an autosom...
Human Genetics
comment
0
thumb_up
0
Assessing efficiency of fine-mapping obesity-associated variants through leveraging ancestry architecture and functional annotation using PAGE and UKBB cohorts
Inadequate representation of non-European ancestry populations in genome-wide association studies (GWAS) has limited oppor...
Human Genetics
comment
0
thumb_up
0
Breakpoints in complex chromosomal rearrangements correspond to transposase-accessible regions of DNA from mature sperm
Constitutional complex chromosomal rearrangements (CCRs) are rare cytogenetic aberrations arising in the germline via an u...
Human Genetics
comment
0
thumb_up
0
Non-coding RNAs as skin disease biomarkers, molecular signatures, and therapeutic targets
Non-coding RNAs (ncRNAs) are emerging as biomarkers, molecular signatures, and therapeutic tools and targets for diseases....
Human Genetics
comment
0
thumb_up
0
Comparative neurogenetics of dog behavior complements efforts towards human neuropsychiatric genetics
Domestic dogs display a wide array of heritable behaviors that have intermediate genetic complexity thanks to a long histo...
Human Genetics
comment
0
thumb_up
0
Inactivating TDP2 missense mutation in siblings with congenital abnormalities reminiscent of fanconi anemia
Mutations in TDP2, encoding tyrosyl-DNA phosphodiesterase 2, have been associated with a syndromal form of autosomal reces...
Human Genetics
comment
0
thumb_up
0
Genomics and inclusion of Indigenous peoples in high income countries
Genomics research related to Indigenous people has been at worst exploitative and at best, retrospectively on a journey to...
Human Genetics
comment
0
thumb_up
0
Investigating the tissue specificity and prognostic impact of cis-regulatory cancer risk variants
The tissue-specific incidence of cancers and their genetic basis are poorly understood. Although prior studies have shown ...
Human Genetics
comment
0
thumb_up
0
Editorial for the Neurogenetics and Neurogenomics special issue
Chen M, Li S, Zhu Z, Dai C, Hao X (2022) Investigating the shared genetic architecture and causal relationship between pai...
Human Genetics
comment
0
thumb_up
0
Prospective phenotyping of CHAMP1 disorder indicates that coding mutations may not act through haploinsufficiency
CHAMP1 disorder is a genetic neurodevelopmental condition caused by mutations in the CHAMP1 gene that result in premature ...
Human Genetics
comment
0
thumb_up
0
Long-read sequencing reveals the complex structure of extra dic(21;21) chromosome and its biological effects
Complex congenital chromosome abnormalities are rare but often cause severe symptoms. However, the structures and biologic...
Human Genetics
comment
0
thumb_up
0
Exonic mutations in cell–cell adhesion may contribute to CADASIL-related CSVD pathology
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a condition caused...
Human Genetics
comment
0
thumb_up
0
Genomic characterisation of the overlap of endometriosis with 76 comorbidities identifies pleiotropic and causal mechanisms underlying disease risk
Comorbid conditions can be driven by underlying pleiotropic and causal mechanisms that can provide insights into shared mo...
Human Genetics
comment
0
thumb_up
0
Correction: VIsoQLR: an interactive tool for the detection, quantification and fine-tuning of isoforms in selected genes using long-read sequencing
Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which...
Human Genetics
comment
0
thumb_up
0
Identification of atlastin genetic modifiers in a model of hereditary spastic paraplegia in Drosophila
Hereditary spastic paraplegias (HSPs) are a group of neurodegenerative disorders characterized by progressive dysfunction ...
Human Genetics
comment
0
thumb_up
0
Regulating cancer risk prediction: legal considerations and stakeholder perspectives on the Canadian context
Risk prediction models hold great promise to reduce the impact of cancer in society through advanced warning of risk and i...
Human Genetics
comment
0
thumb_up
0
Sex differences of the shared genetic landscapes between type 2 diabetes and peripheral artery disease in East Asians and Europeans
Type 2 diabetes (T2D) is a critical risk factor for peripheral artery disease (PAD). However, the sex differences in genet...
Human Genetics
comment
0
thumb_up
0
Migraine, chronic kidney disease and kidney function: observational and genetic analyses
Epidemiological studies demonstrate an association between migraine and chronic kidney disease (CKD), while the genetic ba...
Human Genetics
comment
0
thumb_up
0
Population history modulates the fitness effects of Copy Number Variation in the Roma
We provide the first whole genome Copy Number Variant (CNV) study addressing Roma, along with reference populations from S...
Human Genetics
comment
0
thumb_up
0
Integrating eQTL and GWAS data characterises established and identifies novel migraine risk loci
Migraine—a painful, throbbing headache disorder—is the most common complex brain disorder, yet its molecular m...
Human Genetics
comment
0
thumb_up
0
A loss-of-function variant in canine GLRA1 associates with a neurological disorder resembling human hyperekplexia
Hereditary hyperekplexia is a rare neuronal disorder characterized by an exaggerated startle response to sudden tactile or...
Human Genetics
comment
0
thumb_up
0
Spinocerebellar ataxia 38: structure–function analysis shows ELOVL5 G230V is proteotoxic, conformationally altered and a mutational hotspot
Fatty acid elongase ELOVL5 is part of a protein family of multipass transmembrane proteins that reside in the endoplasmic ...
Human Genetics
comment
0
thumb_up
0
Proteomic profiling of retina and retinal pigment epithelium combined embryonic tissue to facilitate ocular disease gene discovery
To expedite gene discovery in eye development and its associated defects, we previously developed a bioinformatics resourc...
Human Genetics
comment
0
thumb_up
0
De novo MCM6 variants in neurodevelopmental disorders: a recognizable phenotype related to zinc binding residues
The minichromosome maintenance (MCM) complex acts as a DNA helicase during DNA replication, and thereby regulates cell cyc...
Human Genetics
comment
0
thumb_up
0
Genotype–phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder
Contactin-associated protein-like 2 (CNTNAP2) gene encodes for CASPR2, a presynaptic type 1 transmembrane protein, involve...
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