165 results on '"Admiraal, Ronald"'
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2. Cochlear implantation and clinical features in patients with Noonan syndrome and Noonan syndrome with multiple lentigines caused by a mutation in PTPN11
3. Heterozygous missense variants of LMX1A lead to nonsyndromic hearing impairment and vestibular dysfunction
4. External ear anomalies and hearing impairment in Noonan Syndrome
5. Incidental findings on cone beam computed tomography scans in cleft lip and palate patients
6. Clinical Practice Guidelines on the Treatment of Patients with Cleft Lip, Alveolus, and Palate: An Executive Summary
7. Genotype–Phenotype Correlation in DFNB8/10 Families with TMPRSS3 Mutations
8. Exon copy number alterations of the CHD7 gene are not a major cause of CHARGE and CHARGE-like syndrome
9. Mutations in PTPRQ are a cause of autosomal-recessive nonsyndromic hearing impairment DFNB84 and associated with vestibular dysfunction
10. Mutations in TPRN cause a progressive form of autosomal-recessive nonsyndromic hearing loss
11. Homozygosity mapping reveals mutations of GRXCR1 as a cause of autosomal-recessive nonsyndromic hearing impairment
12. Definition of a critical region on chromosome 18 for congenital aural atresia by arrayCGH. (Report)
13. Hearing impairment in Dutch patients with connexin 26 ( GJB2) and connexin 30 ( GJB6) mutations
14. Missense Mutations in POU4F3 Cause Autosomal Dominant Hearing Impairment DFNA15 and Affect Subcellular Localization and DNA Binding
15. Familial CHARGE Syndrome and the CHD7 Gene: A Recurrent Missense Mutation, Intrafamilial Recurrence and Variability
16. CHARGE syndrome: Relations between behavioral characteristics and medical conditions
17. Progressive Sensorineural Hearing Loss and a Widened Vestibular Aqueduct in Pendred Syndrome
18. Genetic defects in progressive hearing loss
19. Does Intracochlear Implantation Jeopardize Vestibular Function?
20. MPZL2, Encoding the Epithelial Junctional Protein Myelin Protein Zero-like 2, Is Essential for Hearing in Man and Mouse
21. The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands
22. The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands
23. Broadening the phenotype of DFNB28: Mutations in TRIOBP are associated with moderate, stable hereditary hearing impairment
24. Allelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2
25. De novo and inherited loss-of-function variants of ATP2B2 are associated with rapidly progressive hearing impairment.
26. AGORA, a data- and biobank for birth defects and childhood cancer
27. AGORA, a data- and biobank for birth defects and childhood cancer
28. The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands
29. AGORA, a data‐ and biobank for birth defects and childhood cancer
30. Paediatric Cochlear Implantation in Patients with Waardenburg Syndrome
31. Causes of permanent childhood hearing impairment
32. Allelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2
33. Novel and recurrent CIB2 variants, associated with nonsyndromic deafness, do not affect calcium buffering and localization in hair cells
34. Karyotype-Specific Ear and Hearing Problems in Young Adults With Turner Syndrome and the Effect of Oxandrolone Treatment
35. Similar Phenotypes Caused by Mutations in OTOG and OTOGL
36. Progressive hearing loss and vestibular dysfunction caused by a homozygous nonsense mutation in CLIC5
37. Incidental findings on cone beam computed tomography scans in cleft lip and palate patients
38. Mutations of the Gene Encoding Otogelin Are a Cause of Autosomal-Recessive Nonsyndromic Moderate Hearing Impairment
39. Disruption of Teashirt Zinc Finger Homeobox 1 Is Associated with Congenital Aural Atresia in Humans
40. Proximal Symphalangism, Hyperopia, Conductive Hearing Impairment, and the NOG Gene
41. Next-Generation Sequencing Identifies Mutations of SMPX, which Encodes the Small Muscle Protein, X-Linked, as a Cause of Progressive Hearing Impairment
42. Gipc3 mutations associated with audiogenic seizures and sensorineural hearing loss in mouse and human
43. Mutations in TPRN Cause a Progressive Form of Autosomal-Recessive Nonsyndromic Hearing Loss
44. Mid-frequency DFNA8/12 hearing loss caused by a synonymous TECTA mutation that affects an exonic splice enhancer
45. Results of Sonotubometry in Testing Eustachian Tube Ventilatory Function in Children with Cleft Palate
46. Missense mutations inPOU4F3cause autosomal dominant hearing impairment DFNA15 and affect subcellular localization and DNA binding
47. Familial CHARGE syndrome and theCHD7 gene: A recurrent missense mutation, intrafamilial recurrence and variability
48. Progressive hearing loss and vestibular dysfunction caused by a homozygous nonsense mutation in CLIC5.
49. Vestibular Deterioration Precedes Hearing Deterioration in the P51S COCH Mutation (DFNA9): An Analysis in 74 Mutation Carriers
50. Genotype–phenotype studies in nail-patella syndrome show that LMX1B mutation location is involved in the risk of developing nephropathy
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