41 results on '"Admiraal, Ronald"'
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2. MPZL2, Encoding the Epithelial Junctional Protein Myelin Protein Zero-like 2, Is Essential for Hearing in Man and Mouse
3. Cochlear implantation and clinical features in patients with Noonan syndrome and Noonan syndrome with multiple lentigines caused by a mutation in PTPN11
4. Broadening the phenotype of DFNB28: Mutations in TRIOBP are associated with moderate, stable hereditary hearing impairment
5. The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands
6. AGORA, a data‐ and biobank for birth defects and childhood cancer
7. Paediatric Cochlear Implantation in Patients with Waardenburg Syndrome
8. Allelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2
9. Novel and recurrent CIB2 variants, associated with nonsyndromic deafness, do not affect calcium buffering and localization in hair cells
10. External ear anomalies and hearing impairment in Noonan Syndrome
11. Karyotype-Specific Ear and Hearing Problems in Young Adults With Turner Syndrome and the Effect of Oxandrolone Treatment
12. Similar Phenotypes Caused by Mutations in OTOG and OTOGL
13. Progressive hearing loss and vestibular dysfunction caused by a homozygous nonsense mutation in CLIC5
14. Incidental findings on cone beam computed tomography scans in cleft lip and palate patients
15. Mutations of the Gene Encoding Otogelin Are a Cause of Autosomal-Recessive Nonsyndromic Moderate Hearing Impairment
16. Disruption of Teashirt Zinc Finger Homeobox 1 Is Associated with Congenital Aural Atresia in Humans
17. Genotype–Phenotype Correlation in DFNB8/10 Families with TMPRSS3 Mutations
18. Proximal Symphalangism, Hyperopia, Conductive Hearing Impairment, and the NOG Gene
19. Next-Generation Sequencing Identifies Mutations of SMPX, which Encodes the Small Muscle Protein, X-Linked, as a Cause of Progressive Hearing Impairment
20. Gipc3 mutations associated with audiogenic seizures and sensorineural hearing loss in mouse and human
21. Mutations in PTPRQ Are a Cause of Autosomal-Recessive Nonsyndromic Hearing Impairment DFNB84 and Associated with Vestibular Dysfunction
22. Mutations in TPRN Cause a Progressive Form of Autosomal-Recessive Nonsyndromic Hearing Loss
23. Homozygosity Mapping Reveals Mutations of GRXCR1 as a Cause of Autosomal-Recessive Nonsyndromic Hearing Impairment
24. Exon copy number alterations of the CHD7 gene are not a major cause of CHARGE and CHARGE-like syndrome
25. Mid-frequency DFNA8/12 hearing loss caused by a synonymous TECTA mutation that affects an exonic splice enhancer
26. Results of Sonotubometry in Testing Eustachian Tube Ventilatory Function in Children with Cleft Palate
27. Missense mutations inPOU4F3cause autosomal dominant hearing impairment DFNA15 and affect subcellular localization and DNA binding
28. Familial CHARGE syndrome and theCHD7 gene: A recurrent missense mutation, intrafamilial recurrence and variability
29. CHARGE syndrome: Relations between behavioral characteristics and medical conditions
30. Vestibular Deterioration Precedes Hearing Deterioration in the P51S COCH Mutation (DFNA9): An Analysis in 74 Mutation Carriers
31. Genotype–phenotype studies in nail-patella syndrome show that LMX1B mutation location is involved in the risk of developing nephropathy
32. Hearing impairment in Dutch patients with connexin 26 (GJB2) and connexin 30 (GJB6) mutations
33. Mutations in a new member of the chromodomain gene family cause CHARGE syndrome
34. Peroxisome biogenesis disorders with prolonged survival: Phenotypic expression in a cohort of 31 patients
35. Congenital Aural Atresia in 18q Deletion or de Grouchy Syndrome
36. Definition of a Critical Region on Chromosome 18 for Congenital Aural Atresia by ArrayCGH
37. Autosomal Dominant Low-Frequency Hearing Impairment (DFNA6/14)
38. Longitudinal and Cross-Sectional Phenotype Analysis in a New, Large Dutch DFNA2/KCNQ4 Family
39. Hearing Loss in the Nonocular Stickler Syndrome Caused by a COL11A2 Mutation
40. Progressive Sensorineural Hearing Loss and a Widened Vestibular Aqueduct in Pendred Syndrome
41. Does Intracochlear Implantation Jeopardize Vestibular Function?
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