Works matching DE "GENETIC disorder treatment"
Results: 553
EXEQUIBILIDADE DA ATENÇÃO INTEGRAL EM GENÉTICA CLÍNICA NO SISTEMA ÚNICO DE SAÚDE: AMPLIANDO O DEBATE.
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- Texto & Contexto Enfermagem, 2014, v. 23, n. 4, p. 1130, doi. 10.1590/0104-07072014002120012
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- Article
Factoring Them In: Shining the Spotlight on Women and Girls with Congenital Bleeding Disorders.
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- Journal of Women's Health (15409996), 2020, v. 29, n. 5, p. 608, doi. 10.1089/jwh.2019.8255
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- Article
A Cross-Sectional Study of Women and Girls with Congenital Bleeding Disorders: The American Thrombosis and Hemostasis Network Cohort.
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- Journal of Women's Health (15409996), 2020, v. 29, n. 5, p. 670, doi. 10.1089/jwh.2019.7930
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- Article
Guideline on Dental Management of Heritable Dental Developmental Anomalies.
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- Pediatric Dentistry, 2014, v. 36, n. 6, p. 264
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- Article
Left Ventricular Non-compaction: Is It Genetic?
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- Pediatric Cardiology, 2015, v. 36, n. 8, p. 1565, doi. 10.1007/s00246-015-1222-5
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- Article
Drug development: Fragile-X drug in humans and mice.
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- Nature, 2012, v. 489, n. 7417, p. 476, doi. 10.1038/489476c
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- Article
In vivo genome editing restores haemostasis in a mouse model of haemophilia.
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- Nature, 2011, v. 475, n. 7355, p. 217, doi. 10.1038/nature10177
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- Article
Blurring Boundaries: A Proposed Research Agenda for Ethical, Legal, Social, and Historical Studies at the Intersection of Infectious and Genetic Disease.
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- Journal of Law, Medicine & Ethics, 2024, v. 52, n. 2, p. 443, doi. 10.1017/jme.2024.116
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- Article
A Menagerie of Moral Hazards: Regulating Genetically Modified Animals.
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- Journal of Law, Medicine & Ethics, 2018, v. 46, n. 1, p. 180, doi. 10.1177/1073110518766031
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- Article
Concurrent acute kidney injury and pancreatitis in a female patient: Questions.
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- 2023
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- Case Study
Diagnosis of Alport syndrome, is there a role for skin biopsy?
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- 2021
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- Letter to the Editor
Correction to: Clinical practice recommendations for the diagnosis and management of Alport syndrome in children, adolescents, and young adults–an update for 2020.
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- 2021
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- Publication type:
- Correction Notice
Clinical practice recommendations for the diagnosis and management of Alport syndrome in children, adolescents, and young adults–an update for 2020.
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- Pediatric Nephrology, 2021, v. 36, n. 3, p. 711, doi. 10.1007/s00467-020-04819-6
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- Article
The importance of clinician, patient and researcher collaborations in Alport syndrome.
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- Pediatric Nephrology, 2020, v. 35, n. 5, p. 733, doi. 10.1007/s00467-019-04241-7
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- Article
Renal involvement in the immunodysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) disorder.
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- 2015
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- Publication type:
- Report
Genetically defined autoinflammatory diseases.
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- Oral Diseases, 2016, v. 22, n. 7, p. 591, doi. 10.1111/odi.12448
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- Publication type:
- Article
Parent-Conducted Competing Stimulus Assessment and Treatment of Challenging Behavior by a Girl With Kleefstra Syndrome.
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- Child & Family Behavior Therapy, 2022, v. 44, n. 4, p. 259, doi. 10.1080/07317107.2022.2103955
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- Article
Growth Hormone Improves Short-Term Growth in Patients with Temple Syndrome.
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- Hormone Research in Paediatrics, 2018, v. 90, n. 6, p. 407, doi. 10.1159/000496700
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- Article
Response to Growth Hormone Therapy in Children with Noonan Syndrome: Correlation with or without PTPN11 Gene Mutation.
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- Hormone Research in Paediatrics, 2012, v. 77, n. 6, p. 388, doi. 10.1159/000339677
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- Article
Diagnostic and Therapeutic Strategies for Fluoropyrimidine Treatment of Patients Carrying Multiple DPYD Variants.
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- Genes, 2018, v. 9, n. 12, p. 585, doi. 10.3390/genes9120585
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- Article
Revolution in Gene Medicine Therapy and Genome Surgery.
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- Genes, 2018, v. 9, n. 12, p. 575, doi. 10.3390/genes9120575
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- Article
Viral Vector-Mediated Antisense Therapy for Genetic Diseases.
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- Genes, 2017, v. 8, n. 2, p. 51, doi. 10.3390/genes8020051
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- Publication type:
- Article
ABCA12-deficient Congenital Ichthyosiform Erythroderma in a Boy with an Intellectual Developmental Delay.
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- 2015
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- Publication type:
- Case Study
Towards a Military Medical Ethics Framework for Genetic Human Enhancement.
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- Penn Bioethics Journal, 2010, v. 6, n. 1, p. 8
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- Publication type:
- Article
Hirschsprung Disease Diagnosis: Calretinin Marker Role in Determining the Presence or Absence of Ganglion Cells.
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- Iranian Journal of Pathology, 2016, v. 11, n. 4, p. 409
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- Publication type:
- Article
CRISPR in Public Health: The Health Equity Implications and Role of Community in Gene-Editing Research and Applications.
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- American Journal of Public Health, 2023, v. 113, n. 8, p. 874, doi. 10.2105/AJPH.2023.307315
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- Article
Hematopoietic stem-cell transplantation for the Bernard-Soulier syndrome.
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- 2003
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- Publication type:
- Case Study
Type II CRISPR/Cas9 approach in the oncological therapy.
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- Journal of Experimental & Clinical Cancer Research (17569966), 2017, v. 36, p. 1, doi. 10.1186/s13046-017-0550-0
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- Article
Polymorphisms in Toll-like receptor genes influence antibody responses to cytomegalovirus glycoprotein Β vaccine.
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- BMC Research Notes, 2012, v. 5, n. 1, p. 140, doi. 10.1186/1756-0500-5-140
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- Article
Umbilical cord blood bank: Does it cover all ethnic groups of Iran based on HLA.
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- Iranian Journal of Reproductive Medicine, 2013, p. 73
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- Publication type:
- Article
One Size Does Not Fit All: Congenital Diaphragmatic Hernia Management in Neonates.
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- Neonatal Network, 2023, v. 42, n. 1, p. 45, doi. 10.1891/NN-2021-0039
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- Article
Congenital Diaphragmatic Hernia: Core Review and Novel Updates.
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- Neonatal Network, 2021, v. 40, n. 5, p. 305, doi. 10.1891/11-T-701
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- Publication type:
- Article
Continuing Education Activities: September/October 2021.
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- Neonatal Network, 2021, v. 40, n. 5, p. 342, doi. 10.1891/0730-0832.40.5.342
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- Article
Maintained improvement with minocycline of a patient with advanced Huntington's disease.
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- 2002
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- Publication type:
- journal article
Functional gold nanoparticles for analysis and delivery of nucleic acids.
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- Journal of Food & Drug Analysis, 2024, v. 32, n. 3, p. 252, doi. 10.38212/2224-6614.3514
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- Article
Systemic siRNA Delivery: A Progress Report.
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- Nanotechnology Law & Business, 2009, v. 6, n. 4, p. 454
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- Article
Congenital lipoma of the lip: a case report.
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- Journal of Oral Science, 2009, v. 51, n. 3, p. 489, doi. 10.2334/josnusd.51.489
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- Article
The companions: regulatory T cells and gene therapy.
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- Immunology, 2009, v. 127, n. 1, p. 1, doi. 10.1111/j.1365-2567.2009.03069.x
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- Article
Neutralization of interferon-γ in neonatal SOCS1<sup>-/-</sup> mice prevents fatty degeneration of the liver but not subsequent fatal inflammatory disease.
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- Immunology, 2001, v. 104, n. 1, p. 92, doi. 10.1046/j.1365-2567.2001.01294.x
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- Article
Genetic analysis of cardiac SCN5A Gene in Iranian patients with hereditary cardiac arrhythmias.
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- Anatolian Journal of Cardiology / Anadolu Kardiyoloji Dergisi, 2016, v. 16, n. 3, p. 170, doi. 10.5152/akd.2015.6060
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- Article
The management of laryngeal lipoid proteinosis.
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- Journal of Laryngology & Otology, 2018, v. 132, n. 10, p. 936, doi. 10.1017/S0022215118001329
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- Article
Liddle Syndrome: Review of the Literature and Description of a New Case.
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- International Journal of Molecular Sciences, 2018, v. 19, n. 3, p. 812, doi. 10.3390/ijms19030812
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- Article
The Low-Renin Hypertension Phenotype: Genetics and the Role of the Mineralocorticoid Receptor.
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- International Journal of Molecular Sciences, 2018, v. 19, n. 2, p. 546, doi. 10.3390/ijms19020546
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- Article
Hereditary Nephrogenic Diabetes Insipidus: Pathophysiology and Possible Treatment. An Update.
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- International Journal of Molecular Sciences, 2017, v. 18, n. 11, p. 2385, doi. 10.3390/ijms18112385
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- Publication type:
- Article
Trans-Splicing Improvement by the Combined Application of Antisense Strategies.
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- International Journal of Molecular Sciences, 2015, v. 16, n. 1, p. 1179, doi. 10.3390/ijms16011179
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- Publication type:
- Article
Structure-Biological Function Relationship Extended to Mitotic Arrest-Deficient 2-Like Protein Mad2 Native and Mutants-New Opportunity for Genetic Disorder Control.
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- International Journal of Molecular Sciences, 2014, v. 15, n. 11, p. 21381, doi. 10.3390/ijms151121381
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- Article
Multiple tuberous xanthomas diagnosed on fine-needle aspiration cytology -- Report of a rare case.
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- CytoJournal, 2022, v. 19, p. 1, doi. 10.25259/Cytojournal_86_2020
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- Publication type:
- Article
From pediatric to adult care: strategic evaluation of a transition program for patients with osteogenesis imperfecta.
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- BMC Health Services Research, 2014, v. 14, n. 1, p. 89, doi. 10.1186/s12913-014-0489-1
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- Publication type:
- Article
Nanopore current transduction analysis of protein binding to non-terminal and terminal DNA regions: analysis of transcription factor binding, retroviral DNA terminus dynamics, and retroviral integrase-DNA binding.
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- BMC Bioinformatics, 2007, v. 8, p. S10, doi. 10.1186/1471-2105-8-S7-S10
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- Publication type:
- Article
Development of a Fetal Rabbit Model to Study Amniotic Band Syndrome.
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- Fetal & Pediatric Pathology, 2012, v. 31, n. 5, p. 300, doi. 10.3109/15513815.2012.659387
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- Article