Identification and characterization of neuromuscular disease-causing genes by next-generation sequencing technology:
Saved in:
| Main Author: | |
|---|---|
| Format: | Thesis Book |
| Language: | English |
| Published: |
Köln
2019
|
| Subjects: | |
| Online Access: | Inhaltsverzeichnis Inhaltsverzeichnis |
| Physical Description: | 96 Seiten Illustrationen, Diagramme |
Staff View
MARC
| LEADER | 00000nam a22000008c 4500 | ||
|---|---|---|---|
| 001 | BV046243850 | ||
| 003 | DE-604 | ||
| 005 | 00000000000000.0 | ||
| 007 | t | ||
| 008 | 191107s2019 gw a||| m||| 00||| eng d | ||
| 016 | 7 | |a 1197757538 |2 DE-101 | |
| 020 | |c Broschur | ||
| 035 | |a (OCoLC)1127302551 | ||
| 035 | |a (DE-599)DNB1197757538 | ||
| 040 | |a DE-604 |b ger |e rda | ||
| 041 | 0 | |a eng | |
| 044 | |a gw |c XA-DE | ||
| 049 | |a DE-355 | ||
| 084 | |a 610 |2 sdnb | ||
| 100 | 1 | |a Karakaya, Mert |d 1985- |e Verfasser |0 (DE-588)1196879192 |4 aut | |
| 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 | |
| 300 | |a 96 Seiten |b Illustrationen, Diagramme | ||
| 336 | |b txt |2 rdacontent | ||
| 337 | |b n |2 rdamedia | ||
| 338 | |b nc |2 rdacarrier | ||
| 502 | |b Dissertation |c Universität zu Köln |d 2019 | ||
| 655 | 7 | |0 (DE-588)4113937-9 |a Hochschulschrift |2 gnd-content | |
| 856 | 4 | 2 | |m B:DE-101 |q application/pdf |u https://d-nb.info/1197757538/04 |3 Inhaltsverzeichnis |
| 856 | 4 | 2 | |m DNB Datenaustausch |q application/pdf |u 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 |3 Inhaltsverzeichnis |
| 999 | |a oai:aleph.bib-bvb.de:BVB01-031622220 | ||
Record in the Search Index
| _version_ | 1804180664510054401 |
|---|---|
| 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
|
| any_adam_object | 1 |
| author | Karakaya, Mert 1985- |
| author_GND | (DE-588)1196879192 |
| author_facet | Karakaya, Mert 1985- |
| author_role | aut |
| author_sort | Karakaya, Mert 1985- |
| author_variant | m k mk |
| building | Verbundindex |
| bvnumber | BV046243850 |
| ctrlnum | (OCoLC)1127302551 (DE-599)DNB1197757538 |
| discipline | Medizin |
| format | Thesis Book |
| fullrecord | <?xml version="1.0" encoding="UTF-8"?><collection xmlns="http://www.loc.gov/MARC21/slim"><record><leader>01334nam a22003378c 4500</leader><controlfield tag="001">BV046243850</controlfield><controlfield tag="003">DE-604</controlfield><controlfield tag="005">00000000000000.0</controlfield><controlfield tag="007">t</controlfield><controlfield tag="008">191107s2019 gw a||| m||| 00||| eng d</controlfield><datafield tag="016" ind1="7" ind2=" "><subfield code="a">1197757538</subfield><subfield code="2">DE-101</subfield></datafield><datafield tag="020" ind1=" " ind2=" "><subfield code="c">Broschur</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(OCoLC)1127302551</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(DE-599)DNB1197757538</subfield></datafield><datafield tag="040" ind1=" " ind2=" "><subfield code="a">DE-604</subfield><subfield code="b">ger</subfield><subfield code="e">rda</subfield></datafield><datafield tag="041" ind1="0" ind2=" "><subfield code="a">eng</subfield></datafield><datafield tag="044" ind1=" " ind2=" "><subfield code="a">gw</subfield><subfield code="c">XA-DE</subfield></datafield><datafield tag="049" ind1=" " ind2=" "><subfield code="a">DE-355</subfield></datafield><datafield tag="084" ind1=" " ind2=" "><subfield code="a">610</subfield><subfield code="2">sdnb</subfield></datafield><datafield tag="100" ind1="1" ind2=" "><subfield code="a">Karakaya, Mert</subfield><subfield code="d">1985-</subfield><subfield code="e">Verfasser</subfield><subfield code="0">(DE-588)1196879192</subfield><subfield code="4">aut</subfield></datafield><datafield tag="245" ind1="1" ind2="0"><subfield code="a">Identification and characterization of neuromuscular disease-causing genes by next-generation sequencing technology</subfield><subfield code="c">Mert Karakaya</subfield></datafield><datafield tag="264" ind1=" " ind2="1"><subfield code="a">Köln</subfield><subfield code="c">2019</subfield></datafield><datafield tag="300" ind1=" " ind2=" "><subfield code="a">96 Seiten</subfield><subfield code="b">Illustrationen, Diagramme</subfield></datafield><datafield tag="336" ind1=" " ind2=" "><subfield code="b">txt</subfield><subfield code="2">rdacontent</subfield></datafield><datafield tag="337" ind1=" " ind2=" "><subfield code="b">n</subfield><subfield code="2">rdamedia</subfield></datafield><datafield tag="338" ind1=" " ind2=" "><subfield code="b">nc</subfield><subfield code="2">rdacarrier</subfield></datafield><datafield tag="502" ind1=" " ind2=" "><subfield code="b">Dissertation</subfield><subfield code="c">Universität zu Köln</subfield><subfield code="d">2019</subfield></datafield><datafield tag="655" ind1=" " ind2="7"><subfield code="0">(DE-588)4113937-9</subfield><subfield code="a">Hochschulschrift</subfield><subfield code="2">gnd-content</subfield></datafield><datafield tag="856" ind1="4" ind2="2"><subfield code="m">B:DE-101</subfield><subfield code="q">application/pdf</subfield><subfield code="u">https://d-nb.info/1197757538/04</subfield><subfield code="3">Inhaltsverzeichnis</subfield></datafield><datafield tag="856" ind1="4" ind2="2"><subfield code="m">DNB Datenaustausch</subfield><subfield code="q">application/pdf</subfield><subfield code="u">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</subfield><subfield code="3">Inhaltsverzeichnis</subfield></datafield><datafield tag="999" ind1=" " ind2=" "><subfield code="a">oai:aleph.bib-bvb.de:BVB01-031622220</subfield></datafield></record></collection> |
| genre | (DE-588)4113937-9 Hochschulschrift gnd-content |
| genre_facet | Hochschulschrift |
| id | DE-604.BV046243850 |
| illustrated | Illustrated |
| indexdate | 2024-07-10T08:39:21Z |
| institution | BVB |
| language | English |
| oai_aleph_id | oai:aleph.bib-bvb.de:BVB01-031622220 |
| oclc_num | 1127302551 |
| open_access_boolean | |
| owner | DE-355 DE-BY-UBR |
| owner_facet | DE-355 DE-BY-UBR |
| physical | 96 Seiten Illustrationen, Diagramme |
| publishDate | 2019 |
| publishDateSearch | 2019 |
| publishDateSort | 2019 |
| record_format | marc |
| 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 |
There is no print copy available.
Indexes