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Wolfram syndrome in a family with variable expression
Abdurrahman Kadayifci, Yalcin Kepekci, Yavuz Coskun
Language English Country Czech Republic
Digital library NLK
Issue
Volume
Source
NLK
Directory of Open Access Journals
from 1997
Free Medical Journals
from 1997
Open Access Digital Library
from 1997-01-01
ROAD: Directory of Open Access Scholarly Resources
from 1997
- MeSH
- Point Mutation MeSH
- Adult MeSH
- Heterozygote MeSH
- Genetics, Medical methods statistics & numerical data MeSH
- Middle Aged MeSH
- Humans MeSH
- Chromosomes, Human, Pair 4 pathology MeSH
- Signs and Symptoms epidemiology genetics pathology MeSH
- Aged MeSH
- Wolfram Syndrome genetics complications pathology MeSH
- Check Tag
- Adult MeSH
- Middle Aged MeSH
- Humans MeSH
- Male MeSH
- Aged MeSH
- Female MeSH
Lit: 12
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- 00000naa a2200000 a 4500
- 001
- bmc02003545
- 003
- CZ-PrNML
- 005
- 20111210062807.0
- 008
- 020200s2001 xr u eng||
- 009
- AR
- 024 7_
- $2 doi $a 10.14712/18059694.2019.96
- 040 __
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- $a xr
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- $a Kadayifci, Abdurrahman $4 aut
- 245 10
- $a Wolfram syndrome in a family with variable expression / $c Abdurrahman Kadayifci, Yalcin Kepekci, Yavuz Coskun
- 314 __
- $a Gaziantep University, Faculty of Medicine, Department of Internal Medicine, Gaziantep, TU
- 504 __
- $a Lit: 12
- 650 _2
- $a Wolframův syndrom $x GENETIKA $x KOMPLIKACE $x PATOLOGIE $7 D014929
- 650 _2
- $a lidské chromozomy, pár 4 $x PATOLOGIE $7 D002894
- 650 _2
- $a bodová mutace $7 D017354
- 650 _2
- $a heterozygot $7 D006579
- 650 _2
- $a příznaky a symptomy $x EPIDEMIOLOGIE $x GENETIKA $x PATOLOGIE $7 D012816
- 650 _2
- $a lékařská genetika $x METODY $x STATISTIKA A ČÍSELNÉ ÚDAJE $7 D005826
- 650 _2
- $a lidé $7 D006801
- 650 _2
- $a dospělí $7 D000328
- 650 _2
- $a lidé středního věku $7 D008875
- 650 _2
- $a senioři $7 D000368
- 650 _2
- $a mužské pohlaví $7 D008297
- 650 _2
- $a ženské pohlaví $7 D005260
- 700 1_
- $a Kepekci, Yalcin $4 aut
- 700 1_
- $a Coskun, Yavuz $4 aut
- 700 1_
- $a Huang, Ying $4 aut
- 773 0_
- $w MED00010947 $t Acta medica (Hradec Králové) $g Roč. 44, č. 3 (2001), s. 115-118 $x 1211-4286
- 856 41
- $u https://actamedica.lfhk.cuni.cz/media/pdf/18059694.2019.96.pdf $y plný text volně přístupný
- 910 __
- $a ABA008 $b A 3077 $c 1072
- 990 __
- $a 20020417
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- $a 20071228
- BAS __
- $a 3
- BMC __
- $a 2001 $b Roč. 44 $c č. 3 $d s. 115-118 $i 1211-4286 $m Acta Medica $x MED00010947