| LDR | | 02639nam u200445 4500 |
| 001 | | 000000422777 |
| 005 | | 20190215170412 |
| 008 | | 181129s2018 |||||||||||||||||c||eng d |
| 020 | |
▼a 9780438151253 |
| 035 | |
▼a (MiAaPQ)AAI10257298 |
| 035 | |
▼a (MiAaPQ)uiowa:14869 |
| 040 | |
▼a MiAaPQ
▼c MiAaPQ
▼d 247004 |
| 082 | 0 |
▼a 614 |
| 100 | 1 |
▼a Sloan-Heggen, Christina Marie. |
| 245 | 10 |
▼a Precision Health and Deafness: Optimizing Genetic Diagnosis. |
| 260 | |
▼a [S.l.]:
▼b The University of Iowa.,
▼c 2018. |
| 260 | 1 |
▼a Ann Arbor:
▼b ProQuest Dissertations & Theses,
▼c 2018. |
| 300 | |
▼a 191 p. |
| 500 | |
▼a Source: Dissertation Abstracts International, Volume: 79-11(E), Section: B. |
| 500 | |
▼a Adviser: Richard JH Smith. |
| 502 | 1 |
▼a Thesis (Ph.D.)--The University of Iowa, 2018. |
| 520 | |
▼a Deafness is the most common sensory deficit in humans. In the United States 1--2 in a thousand babies is born with significant deafness, well over half of which is hereditary. Providing a patient and their family with a genetic diagnosis is the |
| 520 | |
▼a Targeted genomic enrichment and massively parallel sequencing (TGE+MPS) have revolutionized the field of precision health and medicine, allowing for comprehensive genetic diagnosis of many complicated conditions, including NSHL. To take advantag |
| 520 | |
▼a With the implementation of OtoSCOPERTM we aspire to accomplish two aims: providing comprehensive genetic diagnosis for patients all over the world and characterizing the full spectrum of hereditary hearing loss. The goal of my thesis work has be |
| 520 | |
▼a Finally, we interrogated the contribution of syndromic forms of deafness which may actually manifest as NSHL (NSHL mimics) within two deafness cohorts. We performed a retrospective chart review of 14 families with syndromic deafness seen by the |
| 520 | |
▼a All of these studies have lead to the better understanding of the genes and variants that cause NSHL and its mimics, providing a more accurate genetic diagnosis, which is prerequisite to a future of targeted genetic therapies. |
| 590 | |
▼a School code: 0096. |
| 650 | 4 |
▼a Health sciences. |
| 650 | 4 |
▼a Genetics. |
| 690 | |
▼a 0566 |
| 690 | |
▼a 0369 |
| 710 | 20 |
▼a The University of Iowa.
▼b Molecular Physiology & Biophysics. |
| 773 | 0 |
▼t Dissertation Abstracts International
▼g 79-11B(E). |
| 773 | |
▼t Dissertation Abstract International |
| 790 | |
▼a 0096 |
| 791 | |
▼a Ph.D. |
| 792 | |
▼a 2018 |
| 793 | |
▼a English |
| 856 | 40 |
▼u http://www.riss.kr/pdu/ddodLink.do?id=T14996551
▼n KERIS
▼z 이 자료의 원문은 한국교육학술정보원에서 제공합니다. |
| 980 | |
▼a 201812
▼f 2019 |
| 990 | |
▼a ***1012033 |