151 results on '"Fokstuen, Siv"'
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2. Specific Issues in Clinical Genetics and Genetic Counselling Practices Related to Inherited Cardiovascular Conditions
3. Defining categories of actionability for secondary findings in next-generation sequencing
4. Noninvasive prenatal diagnosis of Mendelian disorders for consanguineous couples by relative genotype dosage
5. Management of delivery of a fetus with autosomal recessive polycystic kidney disease: a case report of abdominal dystocia and review of the literature
6. Evolution and triggers of defibrillator shocks in patients with arrhythmogenic right ventricular cardiomyopathy
7. Odyssey of a Misclassified Genomic Variant: Insight from an Incidental Finding Assessment
8. Brugada Syndrome Associated with Different Heterozygous SCN5A Variants in Two Unrelated Families
9. Garrod's fourth inborn error of metabolism solved by the identification of mutations causing pentosuria
10. Brugada Syndrome Associated with Different Heterozygous SCN5A Variants in Two Unrelated Families
11. Brugada Syndrome Associated with Different Heterozygous SCN5A Variants in Two Unrelated Families
12. Severe and Progressive Fetal Ventriculomegaly Leading to the Diagnosis of Periventricular Nodular Heterotopias with Good Outcome
13. The current role of next-generation DNA sequencing in routine care of patients with hereditary cardiovascular conditions: a viewpoint paper of the European Society of Cardiology working group on myocardial and pericardial diseases and members of the European Society of Human Genetics
14. Diagnostic Exome Sequencing to Elucidate the Genetic Basis of Likely Recessive Disorders in Consanguineous Families
15. Chromosomal rearrangements in patients with clinical features of Silver–Russell syndrome
16. Bi‐allelic loss of ERGIC1 causes relatively mild arthrogryposis
17. Contamination of Amniotic Fluid With Maternal Balanced t(11;22) Translocation Cells
18. Velofacial hypoplasia (Sedlackova syndrome): a variant of velocardiofacial (Shprintzen) syndrome and part of the phenotypical spectrum of del 22q11.2
19. Rapid detection of genetic variants in hypertrophic cardiomyopathy by custom DNA resequencing array in clinical practice
20. Are abdominal wall defects and external genitalia anomalies randomly expressed in some families?
21. Complex movement disorder in a patient with heterozygous YY1 mutation (Gabriele‐de Vries syndrome)
22. Quantitative Sequence Analysis of FBN1 Premature Termination Codons Provides Evidence for Incomplete NMD in Leukocytes
23. A DNA Resequencing Array for Pathogenic Mutation Detection in Hypertrophic Cardiomyopathy
24. Prenatal diagnostic indicators of paternal uniparental disomy 14
25. Eight yearsʼ experience of direct molecular testing for myotonic dystrophy in Wales
26. Presymptomatic testing in myotonic dystrophy: genetic counselling approaches
27. Unilateral lobar pulmonary agenesis in sibs
28. Codons 837 and 838 in the Retinal Guanylate Cyclase Gene on Chromosome 17p: Hot Spots for Mutations in Autosomal Dominant Cone-Rod Dystrophy?
29. Personalisierte Medizin: Grundlagen für die interprofessionelle Aus-, Weiter- und Fortbildung von Gesundheitsfachleuten
30. Maternal uniparental disomy 14 as a cause of intrauterine growth retardation and early onset of puberty
31. Personalisierte Medizin: Grundlagen für die interprofessionelle Aus-, Weiter- und Fortbildung von Gesundheitsfachleuten
32. Recommendations for genetic testing and counselling after sudden cardiac death: practical aspects for Swiss practice
33. Entwicklung der genetischen und genomischen Medizin in der Schweiz
34. Entwicklung der genetischen und genomischen Medizin in der Schweiz
35. PBX1haploinsufficiency leads to syndromic congenital anomalies of the kidney and urinary tract (CAKUT) in humans
36. The current role of next-generation DNA sequencing in routine care of patients with hereditary cardiovascular conditions: a viewpoint paper of the European Society of Cardiology working group on myocardial and pericardial diseases and members of the European Society of Human Genetics
37. High throughput sequencing for the diagnosis of inherited hypertrophic cardiomyopathy and other mendelian cardiac disorders
38. The current role of next-generation DNA sequencing in routine care of patients with hereditary cardiovascular conditions: a viewpoint paper of the European Society of Cardiology working group on myocardial and pericardial diseases and members of the European Society of Human Genetics
39. Defining categories of actionability for secondary findings in next-generation sequencing
40. Severe and Progressive Fetal Ventriculomegaly Leading to the Diagnosis of Periventricular Nodular Heterotopias with Good Outcome
41. Are abdominal wall defects and external genitalia anomalies randomly expressed in some families?
42. Empfehlungen zur Durchführung von Gentests bei Patienten mit multipler endokriner Neoplasie (MEN)
43. L'apport de la génétique moléculaire en cardiologie clinique : l'exemple de la cardiomyopathie hypertrophique
44. Gynécologie-obstétrique - Diagnostic prénatal: la révolution des nouvelles technologies
45. Next generation diagnostics on cardiomyopathy
46. Elevated middle cerebral artery peak systolic velocity as a prenatal manifestation of heterozygous type 2 alpha-thalassemia
47. Consanguineous marriages, pearls and perils: Geneva International Consanguinity Workshop Report
48. Myeloid Proliferation without GATA1 Mutations in a Fetus with Down Syndrome Presenting in Utero as a Pericardial Effusion
49. Quantitative sequence analysis ofFBN1premature termination codons provides evidence for incomplete NMD in leukocytes
50. FOXL2‐mutations in blepharophimosis‐ptosis—epicanthus inversus syndrome (BPES); challenges for genetic counseling in female patients
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