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1. Mackenzie's Mission: The Australian Reproductive Carrier Screening Project

2. Pathogenic variants in the Longitudinal Early‐onset Alzheimer's Disease Study cohort

3. Intravenous vs. Oral Hydration to Reduce the Risk of Post-Contrast Acute Kidney Injury After Intravenous Contrast-Enhanced Computed Tomography in Patients With Severe Chronic Kidney Disease (ENRICH)

4. The Importance of Copy Number Variant Analysis in Patients with Monogenic Kidney Disease

5. Comparison of clinical selection-based genetic testing with phenotype-agnostic extensive germline sequencing to diagnose genetic predisposition in children with cancer: a prospective diagnostic study

6. Identification of a pathogenic deep intronic variant in ATRX ends a diagnostic odyssey

7. Medulloblastomas with ELP1 pathogenic variants: A weakly penetrant syndrome with a restricted spectrum in a limited age window

8. Molecular analysis of cancer genomes in children with Lynch syndrome: Exploring causal associations

9. GeNepher data- and biobank for patients with (suspected) genetic kidney disease: Rationale, design and status update

10. No Pathogenic DICER1 Gene Variants in a Cohort Study of 28 Children With Congenital Pulmonary Airway Malformation

11. A new variant in the ZCCHC8 gene: diverse clinical phenotypes and expression in the lung

12. Genotype–phenotype associations in 1018 individuals with SCN1A-related epilepsies

14. Medullary Sponge Kidney and its Relationship with Primary Distal Renal Tubular Acidosis: Case Reports and a Comprehensive Genetics First Approach

15. Experiences of pediatric cancer patients (age 12–18 years) with extensive germline sequencing for cancer predisposition: a qualitative study

17. Development and Developmental Disorders of the Brain Stem

18. The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder

19. Rhabdomyolysis, encephalopathy, epilepsy and cardiac arrhythmia

20. KidneyNetwork: using kidney-derived gene expression data to predict and prioritize novel genes involved in kidney disease

21. Surgical Oncologists and Nurses in Breast Cancer Care are Ready to Provide Pre-Test Genetic Counseling

22. Assessment of Cancer Predisposition Syndromes in a National Cohort of Children With a Neoplasm

23. [Clinical practice guidelines for Fragile X syndrome]

24. Review of genetic testing in kidney disease patients: Diagnostic yield of single nucleotide variants and copy number variations evaluated across and within kidney phenotype groups

25. MO047: Biallelic pathogenic variants in ROBO1 associate with syndromic CAKUT

26. Implementation of paediatric precision oncology into clinical practice: The Individualized Therapies for Children with cancer program 'iTHER'

27. Preclinical Aortic Atherosclerosis in Adolescents With Chronic Disease

29. Development and Validation of a Prediction Model for Early Diagnosis of SCN1A-Related Epilepsies

30. NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns

31. Clinical Delineation and Localization to Chromosome 9p13.3–p12 of a Unique Dominant Disorder in Four Families: Hereditary Inclusion Body Myopathy, Paget Disease of Bone, and Frontotemporal Dementia

32. Prenatal chromosome microarray: 'The UK experience'. A survey of reporting practices in UK genetic services (2012-2019).

33. Contributors

34. Mutations in the human laminin ??2 ( LAMB2 ) gene and the associated phenotypic spectrum a

35. Prognosis for pregnancies with trisomy 16 confined to the placenta: A Danish cohort study.

36. Assessment of copy number variations in the nebulin gene and other nemaline myopathy-causing genes

37. Molecular genetics of X-linked cone-rod dystrophy and Åland Island eye disease

39. Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations

40. DNA glycosylases involved in base excision repair may be associated with cancer risk in BRCA1 and BRCA2 mutation carriers.

41. Heart Disease Characterization and Myocardial Strain Analysis in Patients with PACS1 Neurodevelopmental Disorder

42. Clinical impact of additional findings detected by genome-wide non-invasive prenatal testing

43. Changes in opinions about human germline gene editing as a result of the Dutch DNA-dialogue project

44. Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy

45. Extending the phenotypes associated with <scp> TRIO </scp> gene variants in a cohort of 25 patients and review of the literature

46. Effects of chemotherapy on contralateral breast cancer risk in BRCA1 and BRCA2 mutation carriers

47. Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome

48. The predictive ability of the 313 variant–based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant

49. A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome

50. Subclinical myocardial dysfunction is revealed by speckle tracking echocardiography in patients with Cornelia de Lange syndrome

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