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Author/Creator Booth, Kevin T.

1. Audioprofile Surfaces: The 21st Century Audiogram. (May 2016)

Authors:
Taylor, Kyle R.; Booth, Kevin T.; Azaiez, Hela; Sloan, Christina M.; Kolbe, Diana L.; Glanz, Emily N.; Shearer, A. Eliot; DeLuca, Adam P.; Anand, V. Nikhil; Hildebrand, Michael S.; Simpson, Allen C.; Eppsteiner, Robert W.; Scheetz, Todd E.; Braun, Terry A.; Huygen, Patrick L. M.; Smith, Richard J...
Journal:
Annals of otology, rhinology & laryngology
Issue:
Volume 125:Number 5(2016:May)
Page Start:
361
Record Type:
Journal Article
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2. De Novo Mutation in X-Linked Hearing Loss–Associated POU3F4 in a Sporadic Case of Congenital Hearing Loss. (May 2015)

Authors:
Moteki, Hideaki; Shearer, A. Eliot; Izumi, Shuji; Kubota, Yamato; Azaiez, Hela; Booth, Kevin T.; Sloan, Christina M.; Kolbe, Diana L.; Smith, Richard J. H.; Usami, Shin-ichi
Journal:
Annals of otology, rhinology & laryngology
Issue:
Volume 124:Number 1(2015) Supplement 1
Page Start:
169S
Record Type:
Journal Article
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3. Exome sequencing utility in defining the genetic landscape of hearing loss and novel‐gene discovery in Iran. Issue 1 (24th March 2021)

Authors:
Mohseni, Marzieh; Babanejad, Mojgan; Booth, Kevin T.; Jamali, Payman; Jalalvand, Khadijeh; Davarnia, Behzad; Ardalani, Fariba; Khoshaeen, Atefeh; Arzhangi, Sanaz; Ghodratpour, Fatemeh; Beheshtian, Maryam; Jahanshad, Faezeh; Otukesh, Hasan; Bahrami, Fatemeh; Seifati, Seyed Morteza; Bazazzadegan, N...
Journal:
Clinical genetics
Issue:
Volume 100:Issue 1(2021)
Page Start:
59
Record Type:
Journal Article
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5. Expanding the phenotypic spectrum of COLEC10‐Related 3MC syndrome: A glimpse into COLEC10‐Related 3MC syndrome in the Ashkenazi Jewish population. Issue 10 (9th August 2022)

Authors:
Rabin, Rachel; Hirsch, Yoel; Chung, Wendy K.; Ekstein, Josef; Levy‐Lahad, Ephrat; Zuckerman, Shachar; Mor‐Shaked, Hagar; Meiner, Vardiella; Booth, Kevin T.; Pappas, John
Journal:
American journal of medical genetics
Issue:
Volume 188:Issue 10(2022)
Page Start:
3110
Record Type:
Journal Article
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6. Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss. Issue 11 (11th October 2018)

Authors:
Oza, Andrea M.; DiStefano, Marina T.; Hemphill, Sarah E.; Cushman, Brandon J.; Grant, Andrew R.; Siegert, Rebecca K.; Shen, Jun; Chapin, Alex; Boczek, Nicole J.; Schimmenti, Lisa A.; Murry, Jaclyn B.; Hasadsri, Linda; Nara, Kiyomitsu; Kenna, Margaret; Booth, Kevin T.; Azaiez, Hela; Griffith, Andr...
Other Names:
Rehm Heidi L. guestEditor.; Berg Jonathan S. guestEditor.; Plon Sharon E. guestEditor.
Journal:
Human mutation
Issue:
Volume 39:Issue 11(2018)
Page Start:
1593
Record Type:
Journal Article
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7. Hearing Loss Caused by a P2RX2 Mutation Identified in a MELAS Family With a Coexisting Mitochondrial 3243AG Mutation. (May 2015)

Authors:
Moteki, Hideaki; Azaiez, Hela; Booth, Kevin T.; Hattori, Mitsuru; Sato, Ai; Sato, Yoshihiko; Motobayashi, Mitsuo; Sloan, Christina M.; Kolbe, Diana L.; Shearer, A. Eliot; Smith, Richard J. H.; Usami, Shin-ichi
Journal:
Annals of otology, rhinology & laryngology
Issue:
Volume 124:Number 1(2015) Supplement 1
Page Start:
177S
Record Type:
Journal Article
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8. Is it Usher syndrome? Collaborative diagnosis and molecular genetics of patients with visual impairment and hearing loss. (3rd March 2020)

Authors:
Stiff, Heather A.; Sloan-Heggen, Christina M.; Ko, Ashley; Pfeifer, Wanda L.; Kolbe, Diana L.; Nishimura, Carla J.; Frees, Kathy L.; Booth, Kevin T.; Wang, Donghong; Weaver, Amy E.; Azaiez, Hela; Kamholz, John; Smith, Richard J. H.; Drack, Arlene V.
Journal:
Ophthalmic genetics
Issue:
Volume 41:Number 2(2020)
Page Start:
151
Record Type:
Journal Article
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10. Novel PTPRQ Mutations Identified in Three Congenital Hearing Loss Patients With Various Types of Hearing Loss. (May 2015)

Authors:
Sakuma, Naoko; Moteki, Hideaki; Azaiez, Hela; Booth, Kevin T.; Takahashi, Masahiro; Arai, Yasuhiro; Shearer, A. Eliot; Sloan, Christina M.; Nishio, Shin-ya; Kolbe, Diana L.; Iwasaki, Satoshi; Oridate, Nobuhiko; Smith, Richard J. H.; Usami, Shin-ichi
Journal:
Annals of otology, rhinology & laryngology
Issue:
Volume 124:Number 1(2015) Supplement 1
Page Start:
184S
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗