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32382.
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32384.
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A clinically complex form of dominant optic atrophy (OPA8) maps on chromosome 16. [electronic resource] by
- Carelli, Valerio
- Schimpf, Simone
- Fuhrmann, Nico
- Valentino, Maria Lucia
- Zanna, Claudia
- Iommarini, Luisa
- Papke, Monika
- Schaich, Simone
- Tippmann, Sabine
- Baumann, Britta
- Barboni, Piero
- Longanesi, Lora
- Rugolo, Michela
- Ghelli, Anna
- Alavi, Marcel V
- Youle, Richard J
- Bucchi, Laura
- Carroccia, Rosanna
- Giannoccaro, Maria Pia
- Tonon, Caterina
- Lodi, Raffaele
- Cenacchi, Giovanna
- Montagna, Pasquale
- Liguori, Rocco
- Wissinger, Bernd
Producer: 20110809
In:
Human molecular genetics vol. 20
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32385.
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Frequent allelic loss of Dkk-1 locus (10q11.2) is related with low distant metastasis and better prognosis in head and neck squamous cell carcinomas. [electronic resource] by
- Katase, Naoki
- Gunduz, Mehmet
- Beder, Levent Bekir
- Gunduz, Esra
- Al Sheikh Ali, Mahmoud
- Tamamura, Ryo
- Yaykasli, Kursat Oguz
- Yamanaka, Noboru
- Shimizu, Kenji
- Nagatsuka, Hitoshi
Producer: 20100107
In:
Cancer investigation vol. 28
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32386.
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32387.
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A genomewide linkage study on suicidality in major depressive disorder confirms evidence for linkage to 2p12. [electronic resource] by
- Butler, Amy W
- Breen, Gerome
- Tozzi, Federica
- Craddock, Nick
- Gill, Mike
- Korszun, Ania
- Maier, Wolfgang
- Middleton, Lefkos T
- Mors, Ole
- Owen, Michael J
- Perry, Julia
- Preisig, Martin
- Rice, John P
- Rietschel, Marcella
- Jones, Lisa
- Farmer, Anne E
- Lewis, Cathryn M
- McGuffin, Peter
Producer: 20110307
In:
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics vol. 153B
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32388.
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Rundataxin, a novel protein with RUN and diacylglycerol binding domains, is mutant in a new recessive ataxia. [electronic resource] by
- Assoum, Mirna
- Salih, Mustafa A
- Drouot, Nathalie
- H'Mida-Ben Brahim, Dorra
- Lagier-Tourenne, Clotilde
- AlDrees, Abdulmajeed
- Elmalik, Salah A
- Ahmed, Taha S
- Seidahmed, Mohammad Z
- Kabiraj, Mohammad M
- Koenig, Michel
Producer: 20101007
In:
Brain : a journal of neurology vol. 133
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32389.
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Quality assessment and correlation of microsatellite instability and immunohistochemical markers among population- and clinic-based colorectal tumors results from the Colon Cancer Family Registry. [electronic resource] by
- Cicek, Mine S
- Lindor, Noralane M
- Gallinger, Steven
- Bapat, Bharati
- Hopper, John L
- Jenkins, Mark A
- Young, Joanne
- Buchanan, Daniel
- Walsh, Michael D
- Le Marchand, Loic
- Burnett, Terrilea
- Newcomb, Polly A
- Grady, William M
- Haile, Robert W
- Casey, Graham
- Plummer, Sarah J
- Krumroy, Lisa A
- Baron, John A
- Thibodeau, Stephen N
Producer: 20110727
In:
The Journal of molecular diagnostics : JMD vol. 13
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32390.
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Multiparameter MR imaging in the 6-OPRI variant of inherited prion disease. [electronic resource] by
- De Vita, E
- Ridgway, G R
- Scahill, R I
- Caine, D
- Rudge, P
- Yousry, T A
- Mead, S
- Collinge, J
- Jäger, H R
- Thornton, J S
- Hyare, H
Producer: 20140403
In:
AJNR. American journal of neuroradiology vol. 34
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32391.
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Microsatellite instability typing in serum and tissue of patients with colorectal cancer: comparing real time PCR with hybridization probe and high-performance liquid chromatography. [electronic resource] by
- Mokarram, P
- Rismanchi, M
- Alizadeh Naeeni, M
- Mirab Samiee, S
- Paryan, M
- Alipour, A
- Honardar, Z
- Kavousipour, S
- Naghibalhossaini, F
- Mostafavi-Pour, Z
- Monabati, A
- Hosseni, S V
- Shamsdin, S A
Producer: 20150105
In:
Molecular biology reports vol. 41
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32392.
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32393.
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Comprehensive genome- and transcriptome-wide analyses of mutations associated with microsatellite instability in Korean gastric cancers. [electronic resource] by
- Yoon, Kwiyeom
- Lee, Sunghoon
- Han, Tae-Su
- Moon, So Yeon
- Yun, Sun Mi
- Kong, Seong-Ho
- Jho, Sungwoong
- Choe, Jinny
- Yu, Jieun
- Lee, Hyuk-Joon
- Park, Ji Hyun
- Kim, Hak-Min
- Lee, So Yeun
- Park, Jongsun
- Kim, Woo-Ho
- Bhak, Jong
- Yang, Han-Kwang
- Kim, Seong-Jin
Producer: 20131022
In:
Genome research vol. 23
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32394.
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Clinical and genetic identification of a large chinese family with autosomal dominant retinitis pigmentosa. [electronic resource] by
- Yang, Yezhen
- Tian, Di
- Lee, Janet
- Zeng, Jing
- Zhang, Huiming
- Chen, Siying
- Guo, Hui
- Xiong, Zhiming
- Xia, Kun
- Hu, Zhengmao
- Luo, Jing
Producer: 20150805
In:
Ophthalmic genetics vol. 36
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32395.
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Single-nucleotide polymorphism array-based characterization of ring chromosome 18. [electronic resource] by
- Spreiz, Ana
- Guilherme, Roberta S
- Castellan, Claudio
- Green, Andrew
- Rittinger, Olaf
- Wellek, Brigitte
- Utermann, Barbara
- Erdel, Martin
- Fauth, Christine
- Haberlandt, Edda
- Kim, Chong A
- Kulikowski, Leslie D
- Meloni, Vera A
- Utermann, Gerd
- Zschocke, Johannes
- Melaragno, Maria I
- Kotzot, Dieter
Producer: 20131205
In:
The Journal of pediatrics vol. 163
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32396.
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Combined gating and trafficking defect in Kv11.1 manifests as a malignant long QT syndrome phenotype in a large Danish p.F29L founder family. [electronic resource] by
- Kanters, Jørgen K
- Skibsbye, Lasse
- Hedley, Paula L
- Dembic, Maja
- Liang, Bo
- Hagen, Christian M
- Eschen, Ole
- Grunnet, Morten
- Christiansen, Michael
- Jespersen, Thomas
Producer: 20160725
In:
Scandinavian journal of clinical and laboratory investigation vol. 75
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32397.
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Pancreatic SEC23B deficiency is sufficient to explain the perinatal lethality of germline SEC23B deficiency in mice. [electronic resource] by
- Khoriaty, Rami
- Everett, Lesley
- Chase, Jennifer
- Zhu, Guojing
- Hoenerhoff, Mark
- McKnight, Brooke
- Vasievich, Matthew P
- Zhang, Bin
- Tomberg, Kärt
- Williams, John
- Maillard, Ivan
- Ginsburg, David
Producer: 20180416
In:
Scientific reports vol. 6
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