Results
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481.
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High-density SNP haplotyping suggests altered regulation of tau gene expression in progressive supranuclear palsy. [electronic resource] by
- Rademakers, Rosa
- Melquist, Stacey
- Cruts, Marc
- Theuns, Jessie
- Del-Favero, Jurgen
- Poorkaj, Parvoneh
- Baker, Matt
- Sleegers, Kristel
- Crook, Richard
- De Pooter, Tim
- Bel Kacem, Samira
- Adamson, Jennifer
- Van den Bossche, Dirk
- Van den Broeck, Marleen
- Gass, Jennifer
- Corsmit, Ellen
- De Rijk, Peter
- Thomas, Natalie
- Engelborghs, Sebastiaan
- Heckman, Michael
- Litvan, Irene
- Crook, Julia
- De Deyn, Peter P
- Dickson, Dennis
- Schellenberg, Gerard D
- Van Broeckhoven, Christine
- Hutton, Michael L
Producer: 20060605
In:
Human molecular genetics vol. 14
Availability: No items available.
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489.
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Frequency and distribution in East Asia of 12 mutations identified in the SLC25A13 gene of Japanese patients with citrin deficiency. [electronic resource] by
- Lu, Yao Bang
- Kobayashi, Keiko
- Ushikai, Miharu
- Tabata, Ayako
- Iijima, Mikio
- Li, Meng Xian
- Lei, Lei
- Kawabe, Kotaro
- Taura, Satoru
- Yang, Yanling
- Liu, Tze-Tze
- Chiang, Szu-Hui
- Hsiao, Kwang-Jen
- Lau, Yu-Lung
- Tsui, Lap-Chee
- Lee, Dong Hwan
- Saheki, Takeyori
Producer: 20060105
In:
Journal of human genetics vol. 50
Availability: No items available.
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490.
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The EIF2AK3 gene region and type I diabetes in subjects from South India. [electronic resource] by
- Allotey, R A
- Mohan, V
- McDermott, M F
- Deepa, R
- Premalatha, G
- Hassan, Z
- Cassell, P G
- North, B V
- Vaxillaire, M
- Mein, C A
- Swan, D C
- O'Grady, E
- Ramachandran, A
- Snehalatha, C
- Sinnot, P J
- Hemmatpour, S K
- Froguel, P
- Hitman, G A
Producer: 20050318
In:
Genes and immunity vol. 5
Availability: No items available.
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491.
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492.
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Molecular cloning and characterization of chemokine-like factor super family member 1 (CKLFSF1), a novel human gene with at least 23 alternative splicing isoforms in testis tissue. [electronic resource] by
- Wang, Lu
- Wu, Chunxiao
- Zheng, Ying
- Qiu, Xiaoyan
- Wang, Li
- Fan, Hui
- Han, Wenling
- Lv, Bingfeng
- Wang, Ying
- Zhu, Xiaohui
- Xu, Mingxu
- Ding, Peiguo
- Cheng, Shanhong
- Zhang, Yingmei
- Song, Quansheng
- Ma, Dalong
Producer: 20050321
In:
The international journal of biochemistry & cell biology vol. 36
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493.
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Identification of a Ninein (NIN) mutation in a family with spondyloepimetaphyseal dysplasia with joint laxity (leptodactylic type)-like phenotype. [electronic resource] by
- Grosch, Melanie
- Grüner, Barbara
- Spranger, Stephanie
- Stütz, Adrian M
- Rausch, Tobias
- Korbel, Jan O
- Seelow, Dominik
- Nürnberg, Peter
- Sticht, Heinrich
- Lausch, Ekkehart
- Zabel, Bernhard
- Winterpacht, Andreas
- Tagariello, Andreas
Producer: 20140722
In:
Matrix biology : journal of the International Society for Matrix Biology vol. 32
Availability: No items available.
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498.
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Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability. [electronic resource] by
- Tatton-Brown, Katrina
- Seal, Sheila
- Ruark, Elise
- Harmer, Jenny
- Ramsay, Emma
- Del Vecchio Duarte, Silvana
- Zachariou, Anna
- Hanks, Sandra
- O'Brien, Eleanor
- Aksglaede, Lise
- Baralle, Diana
- Dabir, Tabib
- Gener, Blanca
- Goudie, David
- Homfray, Tessa
- Kumar, Ajith
- Pilz, Daniela T
- Selicorni, Angelo
- Temple, I Karen
- Van Maldergem, Lionel
- Yachelevich, Naomi
- van Montfort, Robert
- Rahman, Nazneen
Producer: 20140519
In:
Nature genetics vol. 46
Availability: No items available.
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500.
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