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2,928 results on '"Functional studies"'

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1. Genetic and Functional Studies of Patients with Thyroid Dyshormonogenesis and Defects in the TSH Receptor (TSHR).

2. SERPINA11 related novel serpinopathy – A perinatal lethal disorder.

3. Potassium channel‐related epilepsy: Pathogenesis and clinical features

4. Research and progress on the mechanism of lower urinary tract neuromodulation: a literature review.

5. Variants in both the N- or C-terminal domains of IHH lead to defective secretion causing short stature and skeletal defects.

6. Variant functional assessment in Drosophila by overexpression: what can we learn?

7. Potassium channel‐related epilepsy: Pathogenesis and clinical features.

8. Research and progress on the mechanism of lower urinary tract neuromodulation: a literature review

9. Combining a prioritization strategy and functional studies nominates 5'UTR variants underlying inherited retinal disease.

10. Recessive SERPING1 Variant Leads to Kinin–Kallikrein System Control Failure in a Consanguineous Brazilian Family with Hereditary Angioedema.

11. Laparoscopic Sleeve Gastrectomy in Patients with Severe Obesity Restores Adaptive Responses Leading to Nonalcoholic Steatohepatitis

12. A functional mechanism for a non-coding variant near AGTR2 associated with risk for preterm birth

13. Functional characterization of a novel PRRT2 variant found in a Portuguese patient with hemiplegic migraine.

14. Functions of rice beta-glucosidases and transglucosidases.

15. Advanced Optical Microscopy: Unveiling Functional Insights Regarding a Novel PPP2R1A Variant and Its Unreported Phenotype.

16. The p.Ser64Leu and p.Pro104Leu missense variants of PALB2 identified in familial pancreatic cancer patients compromise the DNA damage response

17. Whole Genome Analysis of Tibetan Kefir-Derived Lactiplantibacillus Plantarum 12-3 Elucidates Its Genomic Architecture, Antimicrobial and Drug Resistance, Potential Probiotic Functionality and Safety

19. A functional mechanism for a non-coding variant near AGTR2 associated with risk for preterm birth.

20. Detection of novel variant and functional study in a Chinese family with nonsyndromic oligodontia.

21. 昆虫神经肽 SIFamide 及其受体的研究进展.

22. Carriers of the p.P522R variant in PLCγ2 have a slightly more responsive immune system.

23. DIAGNOSTIC SYSTEM FOR FUNCTIONAL STUDIES IN PATIENTS WITH OSTEOARTHRITIS OF THE KNEE JOINT.

25. Editorial: Peptide-binding GPCRs coming of age

26. Mild Neurological Phenotype Associated with Hypomorphic Variants in the Ataxia-Telangiectasia Mutated Gene.

27. Advanced Optical Microscopy: Unveiling Functional Insights Regarding a Novel PPP2R1A Variant and Its Unreported Phenotype

28. Concise Review: Stem Cell Models of SCN1A -Related Encephalopathies—Current Perspective and Future Therapies.

29. Development of a clinically validated in vitro functional assay to assess pathogenicity of novel GAA variants in patients with Pompe disease identified via newborn screening.

30. MKRN3 role in regulating pubertal onset: the state of art of functional studies.

31. Circulating Tumour Cells in Lung Cancer

32. MKRN3 role in regulating pubertal onset: the state of art of functional studies

33. Development of a clinically validated in vitro functional assay to assess pathogenicity of novel GAA variants in patients with Pompe disease identified via newborn screening

34. Four Novel PAX9 Variants and the PAX9 -Related Non-Syndromic Tooth Agenesis Patterns.

35. Imaging Techniques: Essential Tools for the Study of SARSCoV-2 Infection.

36. Functional and clinical analysis of five EDA variants associated with ectodermal dysplasia but with a hard-to-predict significance.

37. Functional profiling of LDLR variants: Important evidence for variant classification: Functional profiling of LDLR variants.

38. ModelMatcher: A scientist‐centric online platform to facilitate collaborations between stakeholders of rare and undiagnosed disease research.

39. Imaging Techniques: Essential Tools for the Study of SARS-CoV-2 Infection

40. Functional and clinical analysis of five EDA variants associated with ectodermal dysplasia but with a hard-to-predict significance

41. Post-GWAS functional characterisation of colorectal cancer risk loci

42. Feasibility of Follow-Up Studies and Reclassification in Spinocerebellar Ataxia Gene Variants of Unknown Significance.

43. Feasibility of Follow-Up Studies and Reclassification in Spinocerebellar Ataxia Gene Variants of Unknown Significance

44. The Most Common Genetic Factors of Alzheimer’s disease and Importance of Fruit Fly in Disease Modeling Studies

45. Characterization of circulating breast cancer cells with tumorigenic and metastatic capacity

46. Neuroimaging Insight Into Fragile X-Associated Neuropsychiatric Disorders: Literature Review.

47. 玫瑰植物中活性物质及其功效研究进展 .

48. KRIT1 Gene in Patients with Cerebral Cavernous Malformations: Clinical Features and Molecular Characterization of Novel Variants.

49. Functional studies cast light on receptor states

50. Neuroimaging Insight Into Fragile X-Associated Neuropsychiatric Disorders: Literature Review

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