Fred F Telischi

Professor

  • 2862 Citations
1991 …2019
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Fingerprint Dive into the research topics where Fred F Telischi is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 22 Similar Profiles
Cochlea Medicine & Life Sciences
Cochlear Implants Medicine & Life Sciences
Cochlear Implantation Medicine & Life Sciences
Hearing Medicine & Life Sciences
Acoustic Neuroma Medicine & Life Sciences
Facial Nerve Medicine & Life Sciences
Electrodes Medicine & Life Sciences
Hearing Loss Medicine & Life Sciences

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Research Output 1991 2019

De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia

Undiagnosed Diseases Network, Aug 1 2019, In : American journal of human genetics. 105, 2, p. 413-424 12 p.

Research output: Contribution to journalArticle

Coloboma
Intellectual Disability
Epilepsy
Diptera
Phenotype

Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification

Undiagnosed Diseases Network, Jun 6 2019, In : American journal of human genetics. 104, 6, p. 1127-1138 12 p.

Research output: Contribution to journalArticle

Albinism
Hypopigmentation
Fibroblasts
Vacuoles
Osteopetrosis

Magnetic Resonance Imaging characteristics in case of TOR1AIP1 muscular dystrophy

Undiagnosed Diseases Network (UDN) & Members of the Undiagnosed Diseases Network, Nov 1 2019, In : Clinical Imaging. 58, p. 108-113 6 p.

Research output: Contribution to journalArticle

Muscular Dystrophies
Magnetic Resonance Imaging
Atrophy
Lower Extremity
Muscles
2 Citations (Scopus)

Preclinical assessment of MEK1/2 inhibitors for neurofibromatosis type 2-associated schwannomas reveals differences in efficacy and drug resistance development

Fuse, M. A., Dinh, C. T., Vitte, J., Kirkpatrick, J., Mindos, T., Plati, S. K., Young, J., Huang, J., Carlstedt, A., Franco, M. C., Brnjos, K., Nagamoto, J., Petrilli, A. M., Copik, A. J., Soulakova, J. N., Bracho, O., Yan, D., Mittal, R., Shen, R., Telischi, F. F. & 5 others, Morrison, H., Giovannini, M., Liu, X. Z., Chang, L. S. & Fernandez-Valle, C., Mar 18 2019, In : Neuro-Oncology. 21, 4, p. 486-497 12 p.

Research output: Contribution to journalArticle

Neurofibromatosis 2
Neurilemmoma
Drug Resistance
Acoustic Neuroma
Neurofibromin 2
3 Citations (Scopus)

Advanced Otosclerosis: Stapes Surgery or Cochlear Implantation?

Eshraghi, A., Ila, K., Ocak, E. & Telischi, F. F., Apr 1 2018, In : Otolaryngologic Clinics of North America. 51, 2, p. 429-440 12 p.

Research output: Contribution to journalReview article

Stapes Surgery
Otosclerosis
Cochlear Implantation
Bone Conduction
Hearing Aids