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2. De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects

3. Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy

4. Genome-wide non-invasive prenatal testing in single- and multiple-pregnancies at any risk: Identification of maternal polymorphisms to reduce the number of unnecessary invasive confirmation testing

5. Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly

6. The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study

7. Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling

8. Maladie de von Hippel-Lindau

9. Von-Hippel-Lindau-Erkrankung

11. Molekulargenetik und Molekularpathologie beim Prostatakarzinom

13. Molekulargenetik und Molekularpathologie beim Prostatakarzinom

14. Developmental Consequences of Defective ATG7-Mediated Autophagy in Humans

17. The clinical significance of small copy number variants in neurodevelopmental disorders

19. Developmental Consequences of Defective ATG7-Mediated Autophagy in Humans

20. Update Swiss guideline for counselling and testing for predisposition to breast, ovarian, pancreatic and prostate cancer

21. De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Callosum, Axon, Cardiac, Ocular, and Genital Defects

22. Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy

23. Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy

24. De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder

25. Medizinische Genetik im ärztlichen Alltag

27. Prevalence of genetic susceptibility for breast and ovarian cancer in a non-cancer related study population: secondary germline findings from a Swiss single centre cohort

28. The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study

29. The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study

31. De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder

33. Analyse mutationnelle de BRCA1/2 et inhibiteurs de PARP chez les ­patientes atteintes de cancer de l’ovaire

34. BRCA1/2-Mutationstestung und PARP-Inhibitoren bei Patientinnen mit Ovarialkarzinom

36. C2orf71 Mutations as a Frequent Cause of Autosomal-Recessive Retinitis Pigmentosa: Clinical Analysis and Presentation of 8 Novel Mutations

37. Low-Level Chromosomal Mosaicism in Neurodevelopmental Disorders

38. C2orf71 Mutations as a Frequent Cause of Autosomal-Recessive Retinitis Pigmentosa: Clinical Analysis and Presentation of 8 Novel Mutations

39. Medizinische Genetik im ärztlichen Alltag

40. Low-Level Chromosomal Mosaicism in Neurodevelopmental Disorders

41. Genetische Diagnostik für die Betreuung von Patientinnen mit Brustkrebs: BRCA and beyond

45. De novo missense mutations in the NAA10 gene cause severe non-syndromic developmental delay in males and females

47. Clinical and experimental evidence suggest a link between KIF7and C5orf42-related ciliopathies through Sonic Hedgehog signaling

48. Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability

49. Hemizygous deletion of COL3A1, COL5A2, and MSTN causes a complex phenotype with aortic dissection: a lesson for and from true haploinsufficiency

50. Goltz–Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defects (MLS) syndrome: no evidence of genetic overlap

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