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1. Specific heterozygous variants in MGP lead to endoplasmic reticulum stress and cause spondyloepiphyseal dysplasia

3. <scp>Al‐Gazali</scp> Skeletal Dysplasia Constitutes the Lethal End of <scp> ADAMTSL2 </scp> ‐Related Disorders

4. Impact of variation in practice in the prenatal reporting of variants of uncertain significance by commercial laboratories: Need for greater adherence to published guidelines

5. Etiologies and outcomes of prenatally diagnosed hyperechogenic kidneys

6. Relationships between Head Circumference, Brain Volume and Cognition in Children with Prenatal Alcohol Exposure.

7. RAPIDOMICS: rapid genome-wide sequencing in a neonatal intensive care unit—successes and challenges

8. Broad spectrum of neuropsychiatric phenotypes associated with white matter disease in PTEN hamartoma tumor syndrome

9. Unpacking the Heterogeneity of Cognitive Functioning in Children and Adolescents with Fetal Alcohol Spectrum Disorder: Determining the Role of Moderators and Strengths

10. Benchmarking outcomes in the Neonatal Intensive Care Unit: Cytogenetic and molecular diagnostic rates in a retrospective cohort

11. Microarray results as an indicator of sexual abuse

13. Diagnostic clarity of exome sequencing following negative comprehensive panel testing in the neonatal intensive care unit

14. Utility of whole‐exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care

15. Two novel disease-causing variants in BMPR1B are associated with brachydactyly type A1

16. Skeletal Dysplasias: What Every Bone Health Clinician Needs to Know

17. A de novo mutation in RPL10 causes a rare X-linked ribosomopathy characterized by syndromic intellectual disability and epilepsy: A new case and review of the literature

18. Deficits in response inhibition correlate with oculomotor control in children with fetal alcohol spectrum disorder and prenatal alcohol exposure

19. Growth and development in thanatophoric dysplasia – an update 25 years later

20. The defining DNA methylation signature of Floating-Harbor Syndrome

21. Autosomal dominant cutis laxa with progeroid features due to a novel, de novo mutation in ALDH18A1

22. Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit

23. Identification of Novel Mutations ConfirmsPde4das a Major Gene Causing Acrodysostosis

24. Detection of genomic deletions ofPKP2in arrhythmogenic right ventricular cardiomyopathy

25. Mutations in SRCAP, Encoding SNF2-Related CREBBP Activator Protein, Cause Floating-Harbor Syndrome

26. Meconium ileus in a Lebanese family secondary to mutations in the GUCY2C gene

27. Mutations in GDF5 presenting as semidominant brachydactyly A1

28. Brachydactyly A-1 mutations restricted to the central region of the N-terminal active fragment of Indian Hedgehog

29. Oculomotor control in children with fetal alcohol spectrum disorders assessed using a mobile eye-tracking laboratory

30. Dépistage des porteurs de thalassémie et d’hémoglobinopathies au Canada

31. Archivée: Dépistage du X fragile en obstétrique-gynécologie au Canada

32. RETIRED: Fragile X Testing in Obstetrics and Gynaecology in Canada

33. Archivée: Taux de perte foetale associée à l’amniocentèse menée au cours du deuxième trimestre

34. Deficits in Eye Movement Control in Children With Fetal Alcohol Spectrum Disorders

35. Archivée: Dépistage prénatal de l’aneuploïdie foetale

36. RETIRED: Prenatal Screening for Fetal Aneuploidy

37. Fetal segmental spinal dysgenesis and unusual segmental agenesis of the anterior spinal artery

38. Dépistage des porteurs de troubles génétiques chez les personnes d'origine juive ahkénaze

39. Hippocampal Hypoplasia in Smith-Lemli-Opitz Syndrome

40. Further delineation of Kabuki syndrome in 48 well-defined new individuals

41. Möbius sequence, Robin complex, and hypotonia: Severe expression of brainstem disruption spectrum versus Carey-Fineman-Ziter syndrome

42. Smith-Lemli-Opitz syndrome: New mutation with a mild phenotype

43. Disruption of the ASTN2 / TRIM32 locus at 9q33.1 is a risk factor in males for Autism Spectrum Disorders, ADHD and other neurodevelopmental phenotypes

45. Working memory and visuospatial deficits correlate with oculomotor control in children with fetal alcohol spectrum disorder

46. The phenotype of Floating-Harbor syndrome

47. Identification of Novel Mutations ConfirmsPDE4Das a Major Gene Causing Acrodysostosis

48. Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients

49. Identification of novel mutations confirms PDE4D as a major gene causing acrodysostosis

50. De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

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