78 results on '"Genetic disorders -- Physiological aspects"'
Search Results
2. ABIRATERONE IN CLASSIC CONGENITAL ADRENAL HYPERPLASIA
3. Researcher from Instituto de Investigacion Sanitaria La Fe Reports Recent Findings in Seizures (Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 Caused by a Novel PIGA Variant Not Associated with a Skewed X-Inactivation Pattern)
4. Perioperative management of Fontan operation for the child with panhypopituitarism: a case report
5. Impaired yolk sac NAD metabolism disrupts murine embryogenesis with relevance to human birth defects
6. Research from University Hospital Maggiore della Carita Yields New Data on Congenital Adrenal Hyperplasia (Co-Occurrence of a Pathogenic * * HSD3B2* * Variant and a Duplication on 10q22.3-q23.2 Detected in Newborn Twins with Salt-Wasting ...)
7. Application of Physiological and Pathological Wall Shear Stress to Endocardial Endothelial Cells Triggers Complex Signaling Pathways
8. CONGENITAL ADRENAL HYPERPLASIA
9. Estonia - Planning And Implementation Of Research And Development Work - Screening Studies For Congenital Metabolism Diseases In Newborns
10. Order Notice deliveries equipment For The Department Of Congenital Metabolism And Pediatrics And The Department Of Neurology Of Children And Adolescents
11. Announcement Of The Outcome Of The Proceedingsdeliveriesfurniture And Equipment For The Children And Adolescent Neurology Clinic And The Department Of Congenital Metabolism And Paediatrics
12. Activin-A enhances mTOR signaling to promote aberrant chondrogenesis in fibrodysplasia ossificans progressiva
13. National Research Council (CNR) Reports Findings in Life Science Research (Aberrant Sialylation In a Patient With a Hnf1 Alpha Variant and Liver Adenomatosis)
14. Reports from Lausanne University Hospital and University of Lausanne Advance Knowledge in Hyperinsulinism (Congenital hyperinsulinism: 2 case reports with different rare variants in ABCC8)
15. Studies from Peking University People's Hospital in the Area of Clinical Endocrinology and Metabolism Reported (Maternal and Infant Outcomes In Gck-mody Complicated By Pregnancy)
16. Research from Hiroshima University Graduate School of Biomedical and Health Sciences Yields New Data on Genetics (A complementary approach for genetic diagnosis of inborn errors of immunity using proteogenomic analysis)
17. Research Findings from Children's Hospital Update Understanding of Pediatric Endocrinology and Metabolism (ALG11-CDG: novel variant and review of the literature)
18. Data on Human Genetics Discussed by Researchers at Autonomous University Madrid (Germline and Mosaic Variants In Prkaca and Prkacb Cause a Multiple Congenital Malformation Syndrome)
19. Data from National Health Research Institutes Broaden Understanding of Molecular Genetics and Metabolism (Diagnosis of Arboleda-Tham syndrome by whole genome sequencing in an Asian boy with severe developmental delay)
20. Researchers at Fuwai Central China Cardiovascular Hospital Target Apoptosis (Knockdown of long non-coding RNA SNHG14 protects H9c2 cells against hypoxia-induced injury by modulating miR-25-3p/KLF4 axis in vitro)
21. Anterior segment alterations in congenital primary aphakia--a clinicopathologic report of five cases
22. New Congenital Adrenal Hyperplasia Findings from Endocrinology Research Centre Published [Late consequences of classic congenital adrenal hyperplasia and its long-term poor control in men (case report and literature review)]
23. BioMarin: Understand what phenylketonuria is, a rare congenital disease that can be identified by the 'Foot Foot Test'
24. Hospital Clinic de Barcelona secures contract for Service of analytical determinations for the detection of congenital errors of metabolism and pathologies of second-line neonatal screening for the clinical analysis service of the university hospital are
25. Findings from University of Queensland Provides New Data on Molecular Genetics (Functional Genomics Analysis Identifies Loss of Hnf1b Function As a Cause of Mayer-rokitansky-kuster-hauser Syndrome)
26. EXERCISE SCIENCE ALUMNUS KOBE ROSE USES TRAINING TO HELP CHILDREN WITH HEART ISSUES
27. Research Results from University of KwaZulu-Natal Update Understanding of Human Anatomy (Tessier cleft numbers 3 and 4: Presentation of soft tissue and bony deformities in a select South African population)
28. New Life Science Findings Reported from Yale University (Long-term Risk of Arch Complications In Loeys Dietz Syndrome Patients Undergoing Proximal Ascending Aortic Replacement)
29. Swiss Official Gazette of Commerce notice: HR03-1005386718: Deletion Swiss PKU - Swiss interest group phenylketonuria (PUK) and other congenital protein metabolism disorders, Gonten
30. Mezzion Pharma Announces Positive Data Presented to FDA in Type C Meeting
31. Ocugen, Inc. Announces U.S. FDA Acceptance of Investigational New Drug Application to Initiate a Phase 1/2 Clinical Trial for Gene Therapy Candidate OCU400 to Treat Inherited Retinal Degeneration
32. New Congenital Adrenal Hyperplasia Study Findings Have Been Reported by Researchers at University of Birmingham (Alternative Pathway Androgen Biosynthesis and Human Fetal Female Virilization)
33. Ocular signs of neurofibromatosis: patients with this rare genetic abnormality struggle with a variety of eye health issues
34. Service Of Analytical Determinations For The Detection Of Congenital Errors Of Metabolism And Pathologies Of Second-line Neonatal Screening For The Clinical Analysis Service Of The Son Espases Univers
35. Service Of Analytical Determinations For The Detection Of Congenital Errors Of Metabolism And Pathologies Of Second-line Neonatal Screening For The Clinical Analysis Service Of The Son Espases University Hospital
36. Researchers at Lithuanian University of Health Sciences Release New Data on Congenital Adrenal Hyperplasia (Cardiometabolic Health in Adolescents and Young Adults with Congenital Adrenal Hyperplasia)
37. Department of Agrarian Sciences Researchers Have Provided New Data on Pestivirus (Congenital Neurological Disease Associated With HoBi-like Pestivirus Infection in a Newborn Dairy Calf From Brazil)
38. Study Findings on Molecular Science Reported by Researchers at Tel Aviv University (A Zebrafish Model for a Rare Genetic Disease Reveals a Conserved Role for FBXL3 in the Circadian Clock System)
39. Data from University of Indonesia Update Knowledge in Systems Neuroscience (Deficient Recurrent Cortical Processing in Congenital Deafness)
40. Researchers at West Virginia University Release New Data on Congenital Adrenal Hyperplasia (Congenital adrenal hyperplasia with associated giant adrenal myelolipoma, testicular adrenal rest tumors and primary pigmented nodular adrenocortical ...)
41. Researchers' Work from Cincinnati Children's Hospital Medical Center Focuses on Gastroschisis (Body Composition of Infants With Congenital Gastroschisis)
42. Construction Works Modernization Of The Clinic Of Congenital Defects In Metabolism And Pediatrics And The Clinic Of Neurology Of Children And Youth Of The Institute Of Mother And Child With Replacement Of The Roof, Purchase Of Equipment And Thermal Modern
43. Genetic modifiers of Cep290-mediated retinal degeneration
44. Data from Davidsonville Update Knowledge in Congenital Adrenal Hyperplasia (Case Report: Infant With Congenital Adrenal Hyperplasia and 47,XXY)
45. FOR BABIES WITH CONGENITAL HEART DISEASE, SKIN-TO-SKIN CONTACT PROVES SAFE AND BENEFICIAL
46. Research from APHP Yields New Findings on Pericarditis [Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and review of the ...]
47. Data on Hyperplasia Detailed by Researchers at Department of Biomedical Science (Genetic disruption of 21-hydroxylase in zebrafish causes interrenal hyperplasia)
48. Findings on Congenital Heart Disease Reported by Investigators at Boston Children's Hospital (Surgical Correction of Scoliosis In Children With Severe Congenital Heart Disease and Palliated Single Ventricle Physiology)
49. Data on Science Reported by Researchers at University of California San Francisco (UCSF) (Deletion of Ctcf Sites In the Shh Locus Alters Enhancer-promoter Interactions and Leads To Acheiropodia)
50. Studies from Boston Children's Hospital Update Current Data on Congenital Heart Disease (Interobserver Agreement of the Anatomic and Physiological Classification System for Adult Congenital Heart Disease)
Catalog
Books, media, physical & digital resources
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.