Identification and characterization of neuromuscular disease-causing genes by next-generation sequencing technology:
Gespeichert in:
| 1. Verfasser: | |
|---|---|
| Format: | Abschlussarbeit Buch |
| Sprache: | English |
| Veröffentlicht: |
Köln
2019
|
| Schlagworte: | |
| Online-Zugang: | Inhaltsverzeichnis Inhaltsverzeichnis |
| Beschreibung: | 96 Seiten Illustrationen, Diagramme |
Internformat
MARC
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| 245 | 1 | 0 | |a Identification and characterization of neuromuscular disease-causing genes by next-generation sequencing technology |c Mert Karakaya |
| 264 | 1 | |a Köln |c 2019 | |
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Datensatz im Suchindex
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|---|---|
| adam_text | 6
TABLE
OF
CONTENTS
LIST
OF
ABBREVIATIONS
.................................................................................................................
7
1
INTRODUCTION
...........................................................................................................................
9
1.1
INHERITED
NEUROMUSCULAR
DISEASES
..........................................................................
9
1.2
NEXT
GENERATION
SEQUENCING
AND
NOVEL
GENE
IDENTIFICATION
.................................
10
1.2.1
TARGETED
(GENE PANEL)
AND
MENDELIOME
SEQUENCING
...............................
11
1.2.2
WHOLE
EXOME
SEQUENCING
(WES)
............................................................
12
1.2.3
WHOLE
GENOME
SEQUENCING
(WGS)
........................................................
14
1.2.4
UTILIZATION
OF
NEXT
GENERATION
SEQUENCING
IN
NOVEL
GENE
DISCOVERY
.......
15
1.3
5Q
AND
NON-5Q-SPINAL
MUSCULAR
ATROPHIES
..............................................................
15
1.4
AUTOSOMAL
RECESSIVE
CHARCOT-MARIE-TOOTH
NEUROPATHY
(AR-CMT)
.....................
19
1.5
NEURODEVELOPMENTAL
DISORDER
WITH
MICROCEPHALY,
HYPOTONIA
AND
VARIABLE
BRAIN
ABNORMALITIES
...........................................................................................................
20
1.6
INTRODUCTION
TO
PUBLISHED
ARTICLES
PERTINENT
TO
THIS
THESIS
.....................................
21
2
PUBLICATIONS
...........................................................................................................................
23
2.1
TARGETED
SEQUENCING
WITH
EXPANDED
GENE
PROFILE
ENABLES
HIGH
DIAGNOSTIC
YIELD
IN
NON-5Q-SPINAL
MUSCULAR
ATROPHIES.
HUMAN
MUTATION,
2018,
1-15.
DOI:
10.1
002/HUMU.23560
.............................................................................................
23
2.2
BIALLELIC
MCM3AP
MUTATIONS
CAUSE
CHARCOT-MARIE-TOOTH
NEUROPATHY
WITH
VARIABLE
CLINICAL
PRESENTATION.
BRAIN,
2017:140;
1-5.
DOI:
10.1
093/BRAIN/AWX222
............................................................................................
72
2.3
PRUNE1:
A
DISEASE-CAUSING
GENE
FOR
SECONDARY
MICROCEPHALY.
BRAIN,
2017:
140;
1-4.
DOI:
10.1
093/BRAIN/AWX
197
............................................................................
77
3
DISCUSSION
................................................................................................................................
81
4
SUMMARY
.................................................................................................................................
85
5
ZUSAMMENFASSUNG
................................................................................................................
87
6
REFERENCES
...............................................................................................................................
89
7
LEBENSLAUF.
.............................................................................................................................
94
|
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| author | Karakaya, Mert 1985- |
| author_GND | (DE-588)1196879192 |
| author_facet | Karakaya, Mert 1985- |
| author_role | aut |
| author_sort | Karakaya, Mert 1985- |
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| bvnumber | BV046243850 |
| ctrlnum | (OCoLC)1127302551 (DE-599)DNB1197757538 |
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| indexdate | 2024-07-10T08:39:21Z |
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| language | English |
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| physical | 96 Seiten Illustrationen, Diagramme |
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| spelling | Karakaya, Mert 1985- Verfasser (DE-588)1196879192 aut Identification and characterization of neuromuscular disease-causing genes by next-generation sequencing technology Mert Karakaya Köln 2019 96 Seiten Illustrationen, Diagramme txt rdacontent n rdamedia nc rdacarrier Dissertation Universität zu Köln 2019 (DE-588)4113937-9 Hochschulschrift gnd-content B:DE-101 application/pdf https://d-nb.info/1197757538/04 Inhaltsverzeichnis DNB Datenaustausch application/pdf http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=031622220&sequence=000001&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA Inhaltsverzeichnis |
| spellingShingle | Karakaya, Mert 1985- Identification and characterization of neuromuscular disease-causing genes by next-generation sequencing technology |
| subject_GND | (DE-588)4113937-9 |
| title | Identification and characterization of neuromuscular disease-causing genes by next-generation sequencing technology |
| title_auth | Identification and characterization of neuromuscular disease-causing genes by next-generation sequencing technology |
| title_exact_search | Identification and characterization of neuromuscular disease-causing genes by next-generation sequencing technology |
| title_full | Identification and characterization of neuromuscular disease-causing genes by next-generation sequencing technology Mert Karakaya |
| title_fullStr | Identification and characterization of neuromuscular disease-causing genes by next-generation sequencing technology Mert Karakaya |
| title_full_unstemmed | Identification and characterization of neuromuscular disease-causing genes by next-generation sequencing technology Mert Karakaya |
| title_short | Identification and characterization of neuromuscular disease-causing genes by next-generation sequencing technology |
| title_sort | identification and characterization of neuromuscular disease causing genes by next generation sequencing technology |
| topic_facet | Hochschulschrift |
| url | https://d-nb.info/1197757538/04 http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=031622220&sequence=000001&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA |
| work_keys_str_mv | AT karakayamert identificationandcharacterizationofneuromusculardiseasecausinggenesbynextgenerationsequencingtechnology |
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