Cargando…

Clinical utility gene card for: Alport syndrome – update 2014

Detalles Bibliográficos
Autores principales:	Hertz, Jens Michael, Thomassen, Mads, Storey, Helen, Flinter, Frances
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group 2015
Materias:	Clinical Utility Gene Card Update
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4538213/ https://www.ncbi.nlm.nih.gov/pubmed/25388007 http://dx.doi.org/10.1038/ejhg.2014.254

Ejemplares similares

Clinical utility gene card for: Trimethylaminuria – update 2014
por: Shephard, Elizabeth A, et al.
Publicado: (2015)

Clinical utility gene card for: Long-QT syndrome
por: Beckmann, Britt M., et al.
Publicado: (2021)

SRD5A3 defective congenital disorder of glycosylation: clinical utility gene card
por: Jaeken, Jaak, et al.
Publicado: (2020)

Non-alcoholic fatty liver disease (NAFLD): a tale of fat and sugar?
por: Longato, Lisa
Publicado: (2013)

X-Linked and Autosomal Recessive Alport Syndrome: Pathogenic Variant Features and Further Genotype-Phenotype Correlations
por: Savige, Judith, et al.
Publicado: (2016)

The 2014 International Workshop on Alport Syndrome
por: Miner, Jeffrey H, et al.
Publicado: (2014)

American Academy of Pediatrics 2014 Bronchiolitis Guidelines: Bonfire of the Evidence
por: Walsh, Paul, et al.
Publicado: (2015)

Utility of Chest Radiography in Emergency Department Patients Presenting with Syncope
por: Wong, Matthew L., et al.
Publicado: (2016)

NHAMCS Validation of Emergency Severity Index as an Indicator of Emergency Department Resource Utilization
por: Hocker, Michael B., et al.
Publicado: (2018)

The Association of Demographic, Socioeconomic, and Geographic Factors with Potentially Preventable Emergency Department Utilization
por: Carlson, Lucas C., et al.
Publicado: (2021)

Written Informed Consent for Computed Tomography of the Abdomen/Pelvis is Associated with Decreased CT Utilization in Low-Risk Emergency Department Patients
por: Merck, Lisa H., et al.
Publicado: (2015)

Randomized Controlled Trial of Electronic Care Plan Alerts and Resource Utilization by High Frequency Emergency Department Users with Opioid Use Disorder
por: Rathlev, Niels, et al.
Publicado: (2016)

Low frequency of parental mosaicism in de novo COL4A5 mutations in X‐linked Alport syndrome
por: Helle, Ole Magnus Bjorgaas, et al.
Publicado: (2020)

Update on the Kelch-like (KLHL) gene family
por: Dhanoa, Bajinder S, et al.
Publicado: (2013)

Update of the human and mouse SERPIN gene superfamily
por: Heit, Claire, et al.
Publicado: (2013)

Update of the human and mouse Fanconi anemia genes
por: Dong, Hongbin, et al.
Publicado: (2015)

Assessment of Local Health Department Utility of Syndromic Surveillance: Results of the 2015 Biosurveillance Needs Assessment Survey
por: Chughtai, Sarah, et al.
Publicado: (2016)

Indian Regulatory Update: Jan-May 2014
por: Suvarnapathaki, Kedar
Publicado: (2014)

Indian Regulatory Update: June-August 2014
por: Suvarnapathaki, Kedar
Publicado: (2014)

Update of the keratin gene family: evolution, tissue-specific expression patterns, and relevance to clinical disorders
por: Ho, Minh, et al.
Publicado: (2022)

UCbase 2.0: ultraconserved sequences database (2014 update)
por: Lomonaco, Vincenzo, et al.
Publicado: (2014)

The importance of clinician, patient and researcher collaborations in Alport syndrome
por: Rheault, Michelle N., et al.
Publicado: (2019)

Does Limiting Oral Contrast Decrease Emergency Department Length of Stay?
por: Hopkins, Christy L., et al.
Publicado: (2012)

Value of Mandatory Screening Studies in Emergency Department Patients Cleared for Psychiatric Admission
por: Parmar, Parveen, et al.
Publicado: (2012)

Sedation-assisted Orthopedic Reduction in Emergency Medicine: The Safety and Success of a One Physician/One Nurse Model
por: Vinson, David R., et al.
Publicado: (2013)

Impact of Emergency Department Management of Atrial Fibrillation on Hospital Charges
por: Sacchetti, Alfred, et al.
Publicado: (2013)

Depression is Associated with Repeat Emergency Department Visits in Patients with Non-specific Abdominal Pain
por: Meltzer, Andrew Charles, et al.
Publicado: (2014)

Necessity of Lumbar Puncture in Patients Presenting with New Onset Complex Febrile Seizures
por: Fletcher, Erin M., et al.
Publicado: (2013)

Abnormal Arterial Blood Gas and Serum Lactate Levels Do Not Alter Disposition in Adult Blunt Trauma Patients after Early Computed Tomography
por: Vohra, Taher, et al.
Publicado: (2013)

Oral and Intravenous Acetylcysteine for Treatment of Acetaminophen Toxicity: A Systematic Review and Meta-analysis
por: Green, Jody L., et al.
Publicado: (2013)

Financial Implications for Physicians Accepting Higher Level of Care Transfers
por: Langdorf, Mark I., et al.
Publicado: (2013)

New Drugs and Devices from 2011 – 2012 That Might Change Your Practice
por: Lex, Joe
Publicado: (2013)

Effectiveness of a Drill-assisted Intraosseous Catheter versus Manual Intraosseous Catheter by Resident Physicians in a Swine Model
por: Hafner, John W., et al.
Publicado: (2013)

Patients Who Use Multiple EDs: Quantifying the Degree of Overlap between ED Populations
por: Fertel, Baruch S., et al.
Publicado: (2015)

Frequency of Fractures Identified on Post-Reduction Radiographs After Shoulder Dislocation
por: Gottlieb, Michael, et al.
Publicado: (2016)

Identifying Frequent Users of an Urban Emergency Medical Service Using Descriptive Statistics and Regression Analyses
por: Norman, Chenelle, et al.
Publicado: (2016)

Impact of a Health Information Exchange on Resource Use and Medicare-Allowable Reimbursements at 11 Emergency Departments in a Midsized City
por: Saef, Steven H., et al.
Publicado: (2014)

Reduction in Radiation Exposure through a Stress Test Algorithm in an Emergency Department Observation Unit
por: Pena, Margarita E., et al.
Publicado: (2016)

Evaluation of Healthcare Use Trends of High-Risk Female Intimate Partner Violence Victims
por: Hoelle, Robyn M., et al.
Publicado: (2015)

Low-Cost Alternative External Rotation Shoulder Brace and Review of Treatment in Acute Shoulder Dislocations
por: Lacy, Kyle, et al.
Publicado: (2015)

Cannot write session to /tmp/vufind_sessions/sess_lev3v8tlkqvvok04psdg43gofu