×
Close
註冊
登入
主页
医学图书S馆
医学图书D馆
活动
Upcoming Events
Past Events
用户工具
用户指南
语言
English
中文/ Chinese
French
Português
Español
Arabic
Russian
×
Close
mdla_1
mdla_2
mdla_3
mdla_4
mdla_5
mdla_6
分类
Genetics & Heredity
14711
Global Medical University
5020
Allergy
1783
Anatomy & Morphology
1527
Andrology
414
Anesthesia & Intensive Care
1214
Anesthesiology
5442
Audiology & Speech-Language Pathology
332
Behavioral Sciences
100
Biochemical Research Methods
6818
Biochemistry & Molecular Biology
29335
Biodiversity Conservation
288
Biology
8218
Biophysics
8099
Biotechnology & Applied Microbiology
8197
Cardiac & Cardiovascular Systems
30752
Cardiovascular & Respiratory Systems
1391
Cell & Tissue Engineering
654
Cell Biology
10825
Chemistry, Analytical
4216
Chemistry, Applied
11003
Chemistry, Medicinal
8487
Chemistry, Multidisciplinary
18503
Clinical Immunology & Infectious Disease
442
Clinical Medicine
8751
Clinical Neurology
16238
Clinical Psychology & Psychiatry
1298
Critical Care Medicine
3153
Dentistry, Oral Surgery & Medicine
12959
Dermatology
7601
Developmental Biology
6915
Ecology
645
Education, Scientific Disciplines
1886
Emergency Medicine
3981
Endocrinology, Metabolism & Nutrition
23582
Engineering, Biomedical
3586
Entomology
425
Environmental Medicine & Public Health
4623
Evolutionary Biology
254
Gastroenterology & Hepatology
11883
General & Internal Medicine
6948
Geriatrics & Gerontology
5022
Gerontology
338
Health Care Sciences & Services
15636
Health Policy & Services
594
Hematology
5456
Immunology
24666
Infectious Diseases
13671
Integrative & Complementary Medicine
2758
Medical Ethics
1146
Medical Informatics
2117
Medical Laboratory Technology
433
Medicine, General & Internal
44233
Medicine, Legal
493
Medicine, Research & Experimental
17436
Microbiology
22778
Mycology
0
Nanoscience & Nanotechnology
5039
Neuroimaging
1293
Neurology
4396
Neurosciences
38942
Nursing
9355
Nutrition & Dietetics
7802
Obstetrics & Gynecology
8102
Oncology
51594
Ophthalmology
9493
Optics
4025
Orthopedics
11367
Orthopedics, Rehabilitation & Sports Medicine
1729
Otolaryngology
1505
Otorhinolaryngology
4791
Parasitology
1040
Pathology
4888
Pediatrics
21065
Peripheral Vascular Disease
4693
Pharmacology & Pharmacy
33972
Pharmacology/Toxicology
12027
Physiology
8875
Polymer Science
539
Primary Health Care
815
Psychiatry
18891
Psychology
5053
Psychology, Applied
92
Psychology, Biological
335
Psychology, Clinical
785
Psychology, Developmental
222
Psychology, Educational
149
Psychology, Experimental
122
Psychology, Mathematical
0
Psychology, Multidisciplinary
1590
Psychology, Psychoanalysis
41
Psychology, Social
114
Public Health & Health Care Science
2227
Public, Environmental & Occupational Health
26926
Quantum Science & Technology
0
Radiology, Nuclear Medicine & Imaging
12032
Radiology, Nuclear Medicine & Medical Imaging
7772
Rehabilitation
2967
Remote Sensing
0
Reproductive Biology
2745
Reproductive Medicine
1131
Research/Laboratory Medicine & Medical Technology
3872
Respiratory System
7101
Rheumatology
5751
Social Sciences, Biomedical
1176
Substance Abuse
2676
Surgery
33275
Toxicology
4241
Transplantation
927
Tropical Medicine
314
Urology & Nephrology
12745
Veterinary Sciences
35
Virology
2383
Zoology
0
渠道
INTERNATIONAL JOURNAL OF NEONATAL SCREENING
89
Genetics
5
NEJM Genetics
3
Medrxiv - Genetic And Genomic Medicine
1730
CANCER GENE THERAPY
352
CHROMOSOMA
65
CLINICAL GENETICS
118
CURRENT GENETICS
107
CURRENT OPINION IN GENETICS & DEVELOPMENT
245
EPIGENETICS & CHROMATIN
127
EPIGENOMICS
33
EPILEPSIA
211
FRONTIERS IN GENETICS
5400
GENE THERAPY
176
GENETICS IN MEDICINE
104
GENOME MEDICINE
301
GENOMICS PROTEOMICS & BIOINFORMATICS
211
HUMAN GENETICS
330
HUMAN MUTATION
121
JOURNAL OF HUMAN GENETICS
275
JOURNAL OF MEDICAL GENETICS
384
NATURE REVIEWS GENETICS
310
NPJ GENOMIC MEDICINE
178
ORPHANET JOURNAL OF RARE DISEASES
787
ANNALS OF HUMAN GENETICS
24
CYTOGENETIC AND GENOME RESEARCH
97
G3-GENES GENOMES GENETICS
19
GENETIC EPIDEMIOLOGY
30
HUMAN GENOMICS
224
HUMAN HEREDITY
33
INTERNATIONAL JOURNAL OF IMMUNOGENETICS
23
JOURNAL OF EVOLUTIONARY BIOLOGY
120
JOURNAL OF GENETIC COUNSELING
152
PSYCHIATRIC GENETICS
131
EGYPTIAN JOURNAL OF MEDICAL HUMAN GENETICS
270
FORENSIC SCIENCE INTERNATIONAL GENETICS SUPPLEMENT SERIES
17
GENETICS AND MOLECULAR RESEARCH
10
GLOBAL MEDICAL GENETICS
129
JOURNAL OF COMMUNITY GENETICS
180
NON-CODING RNA
125
FUNCTIONAL & INTEGRATIVE GENOMICS
486
GENETICA
94
IMMUNOGENETICS
128
JOURNAL OF APPLIED GENETICS
198
JOURNAL OF GENETICS
178
RUSSIAN JOURNAL OF GENETICS
381
SCI时时刷
search
全部
推荐
+
IJNS, Vol. 9, Pages 2: Newborn Screening Long-Term Follow-Up Clinics (Continuity Clinics) in the Philippines during the COVID-19 Pandemic: Continuing Quality Patient Care
The COVID-19 pandemic has challenged healthcare systems worldwide. In the Philippines, long-term care for patients with co...
International Journal Of Neonatal Screening
comment
0
thumb_up
0
IJNS, Vol. 9, Pages 1: Remembering the Legacy of Judi Tuerck
Judith “Judi” Tuerck, RN, MS, one of the true pioneers in the development of newborn screening (NBS), ...
International Journal Of Neonatal Screening
comment
0
thumb_up
0
IJNS, Vol. 8, Pages 66: A Retrospective Evaluation of the Predictive Value of Newborn Screening for Vitamin B12 Deficiency in Symptomatic Infants Below 1 Year of Age
Background: The sensitivity of newborn screening (NBS) in detecting infants that later develop symptomatic vitamin B12 def...
International Journal Of Neonatal Screening
comment
0
thumb_up
0
IJNS, Vol. 8, Pages 64: Technical Study of Automated High-Throughput High-Sensitive Ceruloplasmin Assay on Dried Blood Spots—Reinstate the Potential Use for Newborn Screening of Wilson Disease
In this study, we modified a fully automatic immunoassay on ceruloplasmin concentration on dried blood spots (DBS) to incr...
International Journal Of Neonatal Screening
comment
0
thumb_up
0
IJNS, Vol. 8, Pages 63: Assessing the Content Quality of Online Parental Resources about Newborn Metabolic Disease Screening: A Content Analysis
Parents increasingly utilise the internet to obtain information on health practices, but the quality of online information...
International Journal Of Neonatal Screening
comment
0
thumb_up
0
IJNS, Vol. 8, Pages 60: Inconsistent Provider Testing Practices for Congenital Cytomegalovirus: Missed Diagnoses and Missed Opportunities
Newborn congenital cytomegalovirus (cCMV) screening programs have been found to increase the rates of early diagnosis and ...
International Journal Of Neonatal Screening
comment
0
thumb_up
0
IJNS, Vol. 8, Pages 61: A Roadmap for Potential Improvement of Newborn Screening for Inherited Metabolic Diseases Following Recent Developments and Successful Applications of Bivariate Normal Limits for Pre-Symptomatic Detection of MPS I, Pompe Disease, and Krabbe Disease
The mucopolysaccharidoses (MPS), Pompe Disease (PD), and Krabbe disease (KD) are inherited conditions known as lysosomal s...
International Journal Of Neonatal Screening
comment
0
thumb_up
0
IJNS, Vol. 8, Pages 59: Parental Depression and Anxiety Associated with Newborn Bloodspot Screening for Rare and Variable-Onset Disorders
The ability to screen newborns for a larger number of disorders, including many with variable phenotypes, is prompting deb...
International Journal Of Neonatal Screening
comment
0
thumb_up
0
IJNS, Vol. 8, Pages 57: Multiple 17-OHP Cutoff Co-Variates Fail to Improve 21-Hydroxylase Deficiency Screening Accuracy
To improve the positive predictive value (PPV) of newborn screening for 21-hydroxylase deficiency (21OHD), co-variates hav...
International Journal Of Neonatal Screening
comment
0
thumb_up
0
IJNS, Vol. 8, Pages 58: Missed Cystic Fibrosis Newborn Screening Cases due to Immunoreactive Trypsinogen Levels below Program Cutoffs: A National Survey of Risk Factors
Testing immunoreactive trypsinogen (IRT) is the first step in cystic fibrosis (CF) newborn screening. While high IRT is as...
International Journal Of Neonatal Screening
comment
0
thumb_up
0
IJNS, Vol. 8, Pages 56: Evaluation of a New Laboratory Protocol for Newborn Screening for Congenital Adrenal Hyperplasia in New Zealand
Between 2005 and 2021, 49 cases of classical congenital adrenal hyperplasia were diagnosed in New Zealand, 39 were detecte...
International Journal Of Neonatal Screening
comment
0
thumb_up
0
IJNS, Vol. 8, Pages 50: Newborn Screening for Duchenne Muscular Dystrophy: First Year Results of a Population-Based Pilot
Advancements in therapies for Duchenne muscular dystrophy (DMD) have made diagnosis within the newborn period a high prior...
International Journal Of Neonatal Screening
comment
0
thumb_up
0
IJNS, Vol. 8, Pages 54: Parental Preferences about Policy Options Regarding Disclosure of Incidental Genetic Findings in Newborn Screening: Using Videos and the Internet to Educate and Obtain Input
Our objective was to develop and test a new approach to obtaining parental policy guidance about disclosure of incidental ...
International Journal Of Neonatal Screening
comment
0
thumb_up
0
IJNS, Vol. 8, Pages 53: Psychosocial Issues Related to Newborn Screening: A Systematic Review and Synthesis
Genomic advances have contributed to a proliferation of newborn screening (NBS) programs. Psychosocial consequences of NBS...
International Journal Of Neonatal Screening
comment
0
thumb_up
0
IJNS, Vol. 8, Pages 49: Developing an Online Dashboard to Visualize Performance Data—Tennessee Newborn Screening Experience
Newborn screening (NBS) is a vital public health program and delays in the screening process can lead to catastrophic outc...
International Journal Of Neonatal Screening
comment
0
thumb_up
0
IJNS, Vol. 8, Pages 48: dbRUSP: An Interactive Database to Investigate Inborn Metabolic Differences for Improved Genetic Disease Screening
The Recommended Uniform Screening Panel (RUSP) contains more than forty metabolic disorders recommended for inclusion in u...
International Journal Of Neonatal Screening
comment
0
thumb_up
0
IJNS, Vol. 8, Pages 47: Expanded Newborn Screening in Italy Using Tandem Mass Spectrometry: Two Years of National Experience
Newborn screening (NBS) for inborn errors of metabolism is one of the most advanced tools for secondary prevention in medi...
International Journal Of Neonatal Screening
comment
0
thumb_up
0
IJNS, Vol. 8, Pages 46: Impact of Pancreatitis-Associated Protein on Newborn Screening Outcomes and Detection of CFTR-Related Metabolic Syndrome (CRMS)/Cystic Fibrosis Screen Positive, Inconclusive Diagnosis (CFSPID): A Monocentric Prospective Pilot Experience
Pancreatitis-Associated Protein (PAP)-based Cystic Fibrosis (CF) newborn bloodspot screening (NBS) protocols detect less C...
International Journal Of Neonatal Screening
comment
0
thumb_up
0
IJNS, Vol. 8, Pages 45: Modelling the Cost-Effectiveness and Budget Impact of a Newborn Screening Program for Spinal Muscular Atrophy and Severe Combined Immunodeficiency
Spinal muscular atrophy (SMA) and severe combined immunodeficiency (SCID) are rare, inherited genetic disorders with sever...
International Journal Of Neonatal Screening
comment
0
thumb_up
0
IJNS, Vol. 8, Pages 44: Economic Evaluation of Newborn Screening for Severe Combined Immunodeficiency
Evidence on the cost-effectiveness of newborn screening (NBS) for severe combined immunodeficiency (SCID) in the Australia...
International Journal Of Neonatal Screening
comment
0
thumb_up
0
IJNS, Vol. 8, Pages 39: Experience of the NPC Brazil Network with a Comprehensive Program for the Screening and Diagnosis of Niemann-Pick Disease Type C
Niemann-Pick disease type C (NPC) is a lysosomal disorder caused by impaired cholesterol metabolism. Levels of lysosphingo...
International Journal Of Neonatal Screening
comment
0
thumb_up
0
IJNS, Vol. 8, Pages 37: William Harry Hannon—A Life Well Lived
Dr [...]
International Journal Of Neonatal Screening
comment
0
thumb_up
0
IJNS, Vol. 8, Pages 33: Introducing Newborn Screening for Severe Combined Immunodeficiency—The New Zealand Experience
Screening for severe combined immunodeficiency (SCID) was added to the New Zealand national newborn screening programme in...
International Journal Of Neonatal Screening
comment
0
thumb_up
0
IJNS, Vol. 8, Pages 34: Use of Online Newborn Screening Educational Resources for the Education of Expectant Parents: An Improvement in Equity
Educating parents about the newborn screening (NBS) process is critical in ensuring that families are aware of their child...
International Journal Of Neonatal Screening
comment
0
thumb_up
0
IJNS, Vol. 8, Pages 32: A Public Dialogue to Inform the Use of Wider Genomic Testing When Used as Part of Newborn Screening to Identify Cystic Fibrosis
Cystic fibrosis (CF) has been included within the UK national newborn screening programme since 2007. The approach uses me...
International Journal Of Neonatal Screening
comment
0
thumb_up
0
IJNS, Vol. 8, Pages 27: Newborn Screen for X-Linked Adrenoleukodystrophy Using Flow Injection Tandem Mass Spectrometry in Negative Ion Mode
X-linked adrenoleukodystrophy (X-ALD) is a genetic disorder caused by pathogenic variants in the ATP-binding cassette subf...
International Journal Of Neonatal Screening
comment
0
thumb_up
0
IJNS, Vol. 8, Pages 25: A New Approach to Objectively Evaluate Inherited Metabolic Diseases for Inclusion on Newborn Screening Programmes
Newborn screening (NBS) programmes are essential in the diagnosis of inherited metabolic diseases (IMDs) and for access to...
International Journal Of Neonatal Screening
comment
0
thumb_up
0
IJNS, Vol. 8, Pages 24: Newborn Screening for X-Linked Adrenoleukodystrophy: Review of Data and Outcomes in Pennsylvania
X-linked adrenoleukodystrophy (X-ALD) is the most common peroxisomal disorder. It results from pathogenic variants in ABCD...
International Journal Of Neonatal Screening
comment
0
thumb_up
0
IJNS, Vol. 8, Pages 23: Improving Recruitment for a Newborn Screening Pilot Study with Adaptations in Response to the COVID-19 Pandemic
Seven months after the launch of a pilot study to screen newborns for Duchenne Muscular Dystrophy (DMD) in New York State,...
International Journal Of Neonatal Screening
comment
0
thumb_up
0
IJNS, Vol. 8, Pages 22: Ethical Considerations for Equitable Access to Genomic Sequencing for Critically Ill Neonates in the United States
Rare diseases impact all socio-economic, geographic, and racial groups indiscriminately. Newborn screening (NBS) is an exe...
International Journal Of Neonatal Screening
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