45 results on '"Pennings, Ronald J.E."'
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2. Optical genome mapping and revisiting short-read genome sequencing data reveal previously overlooked structural variants disrupting retinal disease−associated genes
3. Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction
4. Long-Term Outcomes of a Percutaneous Wide-Diameter Bone-Anchored Hearing Implant: A Clinical Evaluation of More than 800 Implants
5. Corrigendum
6. Development and Developmental Disorders of the Brain Stem
7. Hearing Results of Surgery for Acquired Atresia of the External Auditory Canal
8. Hearing Rehabilitation with Active Middle Ear Implants
9. TSHZ1-dependent gene regulation is essential for olfactory bulb development and olfaction
10. TSHZ1-dependent gene regulation is essential for olfactory bulb development and olfaction
11. Exploring the Missing Heritability in Subjects With Hearing Loss, Enlarged Vestibular Aqueducts, and A Single or No Pathogenic SLC26A4 Variant
12. Cochlear supporting cells require GAS2 for cytoskeletal architecture and hearing
13. Identification of 51 novel exons of the Usher syndrome type 2A (USH2A) gene that encode multiple conserved functional domains and that are mutated in patients with Usher syndrome type II
14. Audiometric Characteristics of USH2a Patients
15. Efficacy of diagnostic upper-node procedures during laryngectomy for glottic carcinoma
16. Sex-Related Hearing Impairment in Wolfram Syndrome Patients Identified by Inactivating WFS1 Mutations
17. Progression of low-frequency sensorineural hearing loss (DFNA6/14-WFS1)
18. Molecular Characterization of WFS1 in Patients with Wolfram Syndrome
19. Genetic defects in progressive hearing loss
20. MPZL2, encoding the epithelial junctional protein myelin protein zero-like 2, is essential for hearing in man and mouse
21. MPZL2, Encoding the Epithelial Junctional Protein Myelin Protein Zero-like 2, Is Essential for Hearing in Man and Mouse
22. Broadening the phenotype of DFNB28: Mutations in TRIOBP are associated with moderate, stable hereditary hearing impairment
23. A combination of two truncating mutations in USH2A causes more severe and progressive hearing impairment in Usher syndrome type IIa
24. Comment on “Usher's Syndrome
25. Visual Prognosis in USH2A-Associated Retinitis Pigmentosa Is Worse for Patients with Usher Syndrome Type IIa Than for Those with Nonsyndromic Retinitis Pigmentosa
26. Paediatric Cochlear Implantation in Patients with Waardenburg Syndrome
27. Cervical dystonia after ear surgery
28. Allelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2
29. Intrafamilial Variable Hearing Loss in TRPV4 Induced Spinal Muscular Atrophy
30. Head trauma as eliciting event in transient deterioration of sensorineural hearing loss and vertigo in Pendred/EVA syndrome
31. Mutations in OTOGL , Encoding the Inner Ear Protein Otogelin-like, Cause Moderate Sensorineural Hearing Loss
32. Mutations of the Gene Encoding Otogelin Are a Cause of Autosomal-Recessive Nonsyndromic Moderate Hearing Impairment
33. Disruption of Teashirt Zinc Finger Homeobox 1 Is Associated with Congenital Aural Atresia in Humans
34. Next-Generation Sequencing Identifies Mutations of SMPX, which Encodes the Small Muscle Protein, X-Linked, as a Cause of Progressive Hearing Impairment
35. Phenotype of the first otosclerosis family linked to OTSC10
36. USH2A Mutation analysis in 70 Dutch families with Usher syndrome type II
37. Sex-Related Hearing Impairment in Wolfram Syndrome Patients Identified by Inactivating WFS1 Mutations
38. Mutational spectrum of theWFS1 gene in Wolfram syndrome, nonsyndromic hearing impairment, diabetes mellitus, and psychiatric disease
39. USHER SYNDROME TYPE III CAN MIMIC OTHER TYPES OF USHER SYNDROME.
40. A Review of Progressive Phenotypes in Nonsyndromic Autosomal Dominant Hearing Impairment.
41. Characterizing and Distinguishing Progressive Phenotypes in Nonsyndromic Autosomal Dominant Hearing Impairment.
42. Giant laryngoceles: a cause of upper airway obstruction.
43. Molecular Characterization of WFS1in Patients with Wolfram Syndrome
44. LETTER TO THE EDITOR.
45. MPZL2, Encoding the Epithelial Junctional Protein Myelin Protein Zero-like 2, Is Essential for Hearing in Man and Mouse.
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