Results
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24.
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25.
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26.
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Molecular analysis of 16 Turkish families with DHPR deficiency using denaturing gradient gel electrophoresis (DGGE). [electronic resource] by
- Romstad, A
- Kalkanoğlu, H S
- Coşkun, T
- Demirkol, M
- Tokatli, A
- Dursun, A
- Baykal, T
- Ozalp, I
- Guldberg, P
- Güttler, F
Producer: 20010125
In:
Human genetics vol. 107
Availability: No items available.
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27.
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28.
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Maple syrup urine disease: mutation analysis in Turkish patients. [electronic resource] by
- Dursun, A
- Henneke, M
- Ozgül, K
- Gartner, J
- Coşkun, T
- Tokatli, A
- Kalkanoğlu, H S
- Demirkol, M
- Wendel, U
- Ozalp, I
Producer: 20021230
In:
Journal of inherited metabolic disease vol. 25
Availability: No items available.
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29.
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Molecular analyses of the HGO gene mutations in Turkish alkaptonuria patients suggest that the R58fs mutation originated from central Asia and was spread throughout Europe and Anatolia by human migrations. [electronic resource] by
- Uyguner, O
- Goicoechea de Jorge, E
- Cefle, A
- Baykal, T
- Kayserili, H
- Cefle, K
- Demirkol, M
- Yuksel-Apak, M
- Rodriguez de Córdoba, S
- Wollnik, B
Producer: 20040223
In:
Journal of inherited metabolic disease vol. 26
Availability: No items available.
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30.
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Fine mapping of the human biotinidase gene and haplotype analysis of five common mutations. [electronic resource] by
- Blanton, S H
- Pandya, A
- Landa, B L
- Javaheri, R
- Xia, X
- Nance, W E
- Pomponio, R J
- Norrgard, K J
- Swango, K L
- Demirkol, M
- Gülden, H
- Coskun, T
- Tokatli, A
- Ozalp, I
- Wolf, B
Producer: 20000620
In:
Human heredity vol. 50
Availability: No items available.
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31.
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Genotype-phenotype correlation in three homozygotes for the cystic fibrosis mutation 2183AA-->G shows a severe phenotype. [electronic resource] by
- Kilinç, M O
- Ninis, V N
- Tolun, A
- Estivill, X
- Casals, T
- Savov, A
- Dagli, E
- Karakoç, F
- Demirkol, M
- Hüner, G
- Ozkinay, F
- Demir, E
- Seculi, J L
- Pena, J
- Bousono, C
- Ferrer-Calvete, J
- Calvo, C
- Glover, G
- Kremenski, I
Producer: 20000516
In:
Journal of medical genetics vol. 37
Availability: No items available.
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32.
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Seventeen novel mutations that cause profound biotinidase deficiency. [electronic resource] by
- Wolf, B
- Jensen, K
- Hüner, G
- Demirkol, M
- Baykal, T
- Divry, P
- Rolland, M-O
- Perez-Cerdá, C
- Ugarte, M
- Straussberg, R
- Basel-Vanagaite, L
- Baumgartner, E R
- Suormala, T
- Scholl, S
- Das, A M
- Schweitzer, S
- Pronicka, E
- Sykut-Cegielska, J
Producer: 20030527
In:
Molecular genetics and metabolism vol. 77
Availability: No items available.
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