308 results on '"van der Burgt, Ineke"'
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2. Clinical delineation, sex differences, and genotype–phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2
3. Variants of SOS2 are a rare cause of Noonan syndrome with particular predisposition for lymphatic complications
4. The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome
5. Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP
6. The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP
7. Cochlear implantation and clinical features in patients with Noonan syndrome and Noonan syndrome with multiple lentigines caused by a mutation in PTPN11
8. 18 Kinderen met syndromen en verstandelijke beperkingen
9. Genetic analysis of adults heterozygous for ALPL mutations
10. De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation
11. Ocular findings in Noonan syndrome: a retrospective cohort study of 105 patients
12. Ocular Manifestations of Noonan Syndrome: A Prospective Clinical and Genetic Study of 25 Patients
13. Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders
14. External ear anomalies and hearing impairment in Noonan Syndrome
15. Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome
16. Variable phenotypic expression in a large Noonan syndrome family segregating a novel SOS1 mutation
17. Motor performance in children with Noonan syndrome
18. Copy number variations as potential diagnostic and prognostic markers for CNS melanocytic neoplasms in neurocutaneous melanosis
19. Detection of Chromosome Aneuploidies in Chorionic Villus Samples by Multiplex Ligation-Dependent Probe Amplification
20. Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype
21. Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis
22. Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease
23. Paternal germline origin and sex-ratio distortion in transmission of PTPN11 mutations in Noonan syndrome
24. Absence of PTPN11 mutations in 28 cases of cardiofaciocutaneous (CFC) syndrome
25. Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities
26. Noonan Syndrome
27. PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity
28. Prenatal diagnostic testing of the Noonan syndrome genes in fetuses with abnormal ultrasound findings: P1-92
29. Variants of SOS2 are a rare cause of Noonan syndrome with particular predisposition for lymphatic complications
30. Multiplex Ligation-dependent Probe Amplification (MLPA) as a stand-alone test for rapid aneuploidy detection in amniotic fluid cells
31. Transposition of the great vessels in a patient with a 2.9 Mb interstitial deletion of 9q31.1 encompassing the inversin gene: Clinical report and review
32. Denys–Drash syndrome and congenital diaphragmatic hernia: Another case with the 1097G>A(Arg366His) mutation
33. Electrocardiography in Noonan syndrome PTPN11 gene mutation—phenotype characterization
34. Noonan syndrome: Psychological and psychiatric aspects
35. SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome
36. Myopathy caused by HRAS germline mutations: implications for disturbed myogenic differentiation in the presence of constitutive HRas activation
37. A novel microdeletion in 1 (p34.2p34.3), involving the SLC2A1 (GLUT1) gene, and severe delayed development
38. Genetic homogeneity of cartilage-hair hypoplasia
39. Patterns of cognitive functioning in school-aged children with Noonan syndrome associated with variability in phenotypic expression
40. Is routine karyotyping required in prenatal samples with a molecular or metabolic referral?
41. Prenatal ultrasound findings of rasopathies in a cohort of 424 fetuses: update on genetic testing in the NGS era
42. Recurrent De Novo Mutations Disturbing the GTP/GDP Binding Pocket of RAB11B Cause Intellectual Disability and a Distinctive Brain Phenotype
43. Heterozygous germline mutations in A2ML1 are associated with a disorder clinically related to Noonan syndrome
44. Xeroderma pigmentosum-Cockayne syndrome complex: a further case
45. Nijmegen breakage syndrome
46. The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome
47. The ARID1B spectrum in 143 patients:from nonsyndromic intellectual disability to Coffin–Siris syndrome
48. Correction:The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome (Genetics in Medicine, (2019), 21, 6, (1295-1307), 10.1038/s41436-018-0330-z)
49. Noonan syndrome
50. Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP
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