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Impaired secretion of carboxyl-terminal truncated factor VII due to an F7 nonsense mutation associated with FVII deficiency. [electronic resource] by
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- Suzuki, Atsuo
- Miyawaki, Yuhri
- Fujimori, Yuta
- Yamada, Takayuki
- Takagi, Akira
- Murate, Takashi
- Yamamoto, Koji
- Katsumi, Akira
- Matsushita, Tadashi
- Naoe, Tomoki
- Kojima, Tetsuhito
Producer: 20100701
In:
Thrombosis research vol. 125
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Congenital multifocal rhabdoid tumor: a case with peculiar biological behavior and different response to treatment according to location (central nervous system and kidney). [electronic resource] by
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- Mascelli, Samantha
- Raso, Alessandro
- Nozza, Paolo
- Sementa, Angela R
- Cama, Armando
- Buffa, Piero
- Avanzini, Stefano
- Vannati, Marianna
- Capra, Valeria
- Lanino, Edoardo
- Rossi, Andrea
- Morana, Giovanni
- Magnano, Gian M
- Severino, Mariasavina
- Garrè, Maria L
Producer: 20150401
In:
Cancer genetics vol. 207
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Nonsense mutations in the shelterin complex genes ACD and TERF2IP in familial melanoma. [electronic resource] by
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- Wadt, Karin
- Harland, Mark
- Choi, Jiyeon
- Gartside, Michael
- Quesada, Víctor
- Johansson, Peter
- Palmer, Jane M
- Ramsay, Andrew J
- Zhang, Xijun
- Jones, Kristine
- Symmons, Judith
- Holland, Elizabeth A
- Schmid, Helen
- Bonazzi, Vanessa
- Woods, Susan
- Dutton-Regester, Ken
- Stark, Mitchell S
- Snowden, Helen
- van Doorn, Remco
- Montgomery, Grant W
- Martin, Nicholas G
- Keane, Thomas M
- López-Otín, Carlos
- Gerdes, Anne-Marie
- Olsson, Håkan
- Ingvar, Christian
- Borg, Ake
- Gruis, Nelleke A
- Trent, Jeffrey M
- Jönsson, Göran
- Bishop, D Timothy
- Mann, Graham J
- Newton-Bishop, Julia A
- Brown, Kevin M
- Adams, David J
- Hayward, Nicholas K
Producer: 20150219
In:
Journal of the National Cancer Institute vol. 107
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Reduced penetrance in a large Caucasian pedigree with Stickler syndrome. [electronic resource] by
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- Johnson, Charles
- Abbott, Diana
- Bakall, Benjamin
- Soler, Vincent
- Yanovitch, Tammy L
- Whisenhunt, Kristina N
- Klemm, Thomas
- Rozen, Steve
- Stone, Edwin M
- Johnson, Max
- Young, Terri L
Producer: 20171113
In:
Ophthalmic genetics vol. 38
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4692.
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Hermansky-Pudlak syndrome type 2: Aberrant pre-mRNA splicing and mislocalization of granule proteins in neutrophils. [electronic resource] by
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- Geissler, Judy
- van Alphen, Floris
- de Vries, Esther
- van der Kuip, Martijn
- Terheggen, Suzanne W J
- Janssen, Hans
- van den Berg, Timo K
- Meijer, Alexander B
- Roos, Dirk
- Kuijpers, Taco W
Producer: 20180510
In:
Human mutation vol. 38
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A Comprehensive Characterization of Mitochondrial Genome in Papillary Thyroid Cancer. [electronic resource] by
- Su, Xingyun
- Wang, Weibin
- Ruan, Guodong
- Liang, Min
- Zheng, Jing
- Chen, Ye
- Wu, Huiling
- Fahey, Thomas J
- Guan, Minxin
- Teng, Lisong
Producer: 20170329
In:
International journal of molecular sciences vol. 17
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4697.
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4699.
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Prolonged stable disease in a uveal melanoma patient with germline MBD4 nonsense mutation treated with pembrolizumab and ipilimumab. [electronic resource] by
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- Stark, Andrew
- Palmer, Jane M
- Bigby, Kieron
- Brooks, Kelly
- Rolfe, Olivia
- Pritchard, Antonia L
- Whitehead, Kevin
- Warrier, Sunil
- Glasson, William
- Hayward, Nicholas K
Producer: 20190923
In:
Immunogenetics vol. 71
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