Results
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4581.
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CACP syndrome: identification of five novel mutations and of the first case of UPD in the largest European cohort. [electronic resource] by
- Ciullini Mannurita, Sara
- Vignoli, Marina
- Bianchi, Lucia
- Kondi, Anuela
- Gerloni, Valeria
- Breda, Luciana
- Ten Cate, Rebecca
- Alessio, Maria
- Ravelli, Angelo
- Falcini, Fernanda
- Gambineri, Eleonora
Producer: 20150120
In:
European journal of human genetics : EJHG vol. 22
Availability: No items available.
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4582.
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4583.
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4584.
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4585.
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4586.
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4587.
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4588.
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4589.
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4590.
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GPR56 homozygous nonsense mutation p.R271* associated with phenotypic variability in bilateral frontoparietal polymicrogyria. [electronic resource] by
- Öncü-Öner, Tülay
- Ünalp, Aycan
- Porsuk-Doru, İlknur
- Ağılkaya, Sinem
- Güleryüz, Handan
- Saraç, Aydan
- Ergüner, Bekir
- Yüksel, Bayram
- Hız-Kurul, Semra
- Cingöz, Sultan
Producer: 20190225
In:
The Turkish journal of pediatrics vol. 60
Availability: No items available.
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4591.
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Resorting the function of the colorectal cancer gatekeeper adenomatous polyposis coli. [electronic resource] by
- Kariv, Revital
- Caspi, Michal
- Fliss-Isakov, Naomi
- Shorer, Yamit
- Shor, Yarden
- Rosner, Guy
- Brazowski, Eli
- Beer, Gil
- Cohen, Shlomi
- Rosin-Arbesfeld, Rina
Producer: 20200402
In:
International journal of cancer vol. 146
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4592.
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Identification of a p.Trp403* nonsense variant in PHEX causing X-linked hypophosphatemia by inhibiting p38 MAPK signaling. [electronic resource] by
- Li, Wei
- Tan, Lingfang
- Li, Xin
- Zhang, Xiaoyu
- Wu, Xiaoyan
- Chen, Hongbo
- Hu, Lihua
- Wang, Xiaobei
- Luo, Xiaoping
- Wang, Fan
- Xu, Chengqi
- Chen, Qiuyun
- Jin, Runming
- Wang, Qing K
Producer: 20200317
In:
Human mutation vol. 40
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4593.
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4594.
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4595.
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ZNF341 controls STAT3 expression and thereby immunocompetence. [electronic resource] by
- Frey-Jakobs, Stefanie
- Hartberger, Julia M
- Fliegauf, Manfred
- Bossen, Claudia
- Wehmeyer, Magdalena L
- Neubauer, Johanna C
- Bulashevska, Alla
- Proietti, Michele
- Fröbel, Philipp
- Nöltner, Christina
- Yang, Linlin
- Rojas-Restrepo, Jessica
- Langer, Niko
- Winzer, Sandra
- Engelhardt, Karin R
- Glocker, Cristina
- Pfeifer, Dietmar
- Klein, Adi
- Schäffer, Alejandro A
- Lagovsky, Irina
- Lachover-Roth, Idit
- Béziat, Vivien
- Puel, Anne
- Casanova, Jean-Laurent
- Fleckenstein, Bernhard
- Weidinger, Stephan
- Kilic, Sara S
- Garty, Ben-Zion
- Etzioni, Amos
- Grimbacher, Bodo
Producer: 20190403
In:
Science immunology vol. 3
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4596.
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4597.
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4598.
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4599.
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Novel mutations in the 7-dehydrocholesterol reductase gene of 13 patients with Smith--Lemli--Opitz syndrome. [electronic resource] by
- Jira, P E
- Wanders, R J
- Smeitink, J A
- De Jong, J
- Wevers, R A
- Oostheim, W
- Tuerlings, J H
- Hennekam, R C
- Sengers, R C
- Waterham, H R
Producer: 20010906
In:
Annals of human genetics vol. 65
Availability: No items available.
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4600.
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Mutational analysis of BRCA1 and BRCA2 and clinicopathologic analysis of ovarian cancer in 82 ovarian cancer families: two common founder mutations of BRCA1 in Japanese population. [electronic resource] by
- Sekine, M
- Nagata, H
- Tsuji, S
- Hirai, Y
- Fujimoto, S
- Hatae, M
- Kobayashi, I
- Fujii, T
- Nagata, I
- Ushijima, K
- Obata, K
- Suzuki, M
- Yoshinaga, M
- Umesaki, N
- Satoh, S
- Enomoto, T
- Motoyama, S
- Tanaka, K
Producer: 20011205
In:
Clinical cancer research : an official journal of the American Association for Cancer Research vol. 7
Availability: No items available.
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