×
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
HUMAN MUTATION
121
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
JOURNAL OF HUMAN GENETICS
323
JOURNAL OF MEDICAL GENETICS
462
NATURE REVIEWS GENETICS
378
NPJ GENOMIC MEDICINE
205
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
+
Autosomal dominantly inherited myopathy likely caused by the TNNT1 variant p.(Asp65Ala)
...
Human Mutation
comment
0
thumb_up
0
Large scale genotype‐ and phenotype‐driven machine learning in Von Hippel‐Lindau disease
...
Human Mutation
comment
0
thumb_up
0
The TALE never ends: A comprehensive overview of the role of PBX1, a TALE transcription factor, in human developmental defects
...
Human Mutation
comment
0
thumb_up
0
Altered closed state inactivation gating in Kv4.2 channels results in developmental and epileptic encephalopathies in human patients
...
Human Mutation
comment
0
thumb_up
0
The human ATP‐binding cassette (ABC) transporter superfamily
...
Human Mutation
comment
0
thumb_up
0
Front Cover, Volume 43, Issue 9
...
Human Mutation
comment
0
thumb_up
0
Type II Alexander disease caused by splicing errors and aberrant overexpression of an uncharacterized GFAP isoform
...
Human Mutation
comment
0
thumb_up
0
Benchmarking of univariate pleiotropy detection methods applied to epilepsy
...
Human Mutation
comment
0
thumb_up
0
De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes
...
Human Mutation
comment
0
thumb_up
0
Burden of rare variants in arrhythmogenic cardiomyopathy with right dominant form‐associated genes provides new insights for molecular diagnosis and clinical management
...
Human Mutation
comment
0
thumb_up
0
MiRLog and dbmiR: Prioritization and functional annotation tools to study human microRNA sequence variants
...
Human Mutation
comment
0
thumb_up
0
Predictive functional assay‐based classification of PMS2 variants in Lynch syndrome
...
Human Mutation
comment
0
thumb_up
0
DOCKopathies: A systematic review of the clinical pathologies associated with human DOCK pathogenic variants
...
Human Mutation
comment
0
thumb_up
0
Three novel FHL1 variants cause a mild phenotype of Emery‐Dreifuss muscular dystrophy
...
Human Mutation
comment
0
thumb_up
0
Partial loss‐of‐function variant in neuregulin 1 identified in family with heritable peripheral neuropathy
...
Human Mutation
comment
0
thumb_up
0
The transmission of human mitochondrial DNA in four‐generation pedigrees
...
Human Mutation
comment
0
thumb_up
0
De novo putative loss‐of‐function variants in TAF4 are associated with a neuro‐developmental disorder
...
Human Mutation
comment
0
thumb_up
0
Mutations in OOEP and NLRP5 identified in infertile patients with early embryonic arrest
...
Human Mutation
comment
0
thumb_up
0
Genomic variants reducing expression of two endocytic receptors in 46,XY differences of sex development
Abstract Transporter-dependent steroid hormone uptake into target cells was demonstrated in genetically engineered mice an...
Human Mutation
comment
0
thumb_up
0
Functionally impaired RPL8 variants associated with Diamond‐Blackfan anemia and a Diamond‐Blackfan anemia‐like phenotype
ABSTRACT Diamond-Blackfan anemia is a rare genetic disease characterized by erythroblastopenia and a large spectrum of dev...
Human Mutation
comment
0
thumb_up
0
Harmonizing variant classification for return of results in the All of Us Research Program
Abstract The All of Us Research Program (AoURP) is a historic effort to accelerate research and improve healthcare by gene...
Human Mutation
comment
0
thumb_up
0
ROHMM – A Flexible Hidden Markov Model Framework To Detect Runs of Homozygosity From Genotyping Data
Abstract Runs of long homozygous stretches (ROH) are considered to be the result of consanguinity and usually contain rece...
Human Mutation
comment
0
thumb_up
0
Vulnerable exons, like ACADM exon 5, are highly dependent on maintaining a correct balance between splicing enhancers and silencers
Abstract It is now widely accepted that aberrant splicing of constitutive exons is often caused by mutations affecting cis...
Human Mutation
comment
0
thumb_up
0
Functionally deficient TRPV6 variants contribute to hereditary and familial chronic pancreatitis
AbstractThe recent discovery of TRPV6 as a pancreatitis susceptibility gene served to identify a novel mechanism of chroni...
Human Mutation
comment
0
thumb_up
0
A decade of RAD51C and RAD51D germline variants in cancer
Abstract Defects in DNA repair genes have been extensively associated to cancer susceptibility. Germline pathogenic varian...
Human Mutation
comment
0
thumb_up
0
Novel biallelic mutations in SLC26A8 cause severe asthenozoospermia in humans owing to midpiece defects: Insights into a putative dominant genetic disease
AbstractTo investigate the genetic cause of male infertility characterized by severe asthenozoospermia, two unrelated infe...
Human Mutation
comment
0
thumb_up
0
EFEMP1 rare variants cause familial juvenile‐onset open angle glaucoma
Abstract Juvenile open angle glaucoma (JOAG) is a severe type of glaucoma with onset before age 40 and dominant inheritanc...
Human Mutation
comment
0
thumb_up
0
Generation and mutational analysis of a transgenic mouse model of human SRY
Abstract SRY is the Y-chromosomal gene that determines male sex development in humans and most other mammals. After three ...
Human Mutation
comment
0
thumb_up
0
Distinct sequence features underlie microdeletions and gross deletions in the human genome
Abstract Microdeletions and gross deletions are important causes (~20%) of human inherited disease and their genomic locat...
Human Mutation
comment
0
thumb_up
0
Variant calling: considerations, practices, and developments
Abstract The success of many clinical, association, or population genetics studies critically relies on properly performed...
Human Mutation
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