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Clinical experience in the screening and management of a large kindred with familial isolated pituitary adenoma due to an aryl hydrocarbon receptor interacting protein (AIP) mutation. [electronic resource] by
- Williams, Fred
- Hunter, Steven
- Bradley, Lisa
- Chahal, Harvinder S
- Storr, Helen L
- Akker, Scott A
- Kumar, Ajith V
- Orme, Stephen M
- Evanson, Jane
- Abid, Noina
- Morrison, Patrick J
- Korbonits, Márta
- Atkinson, A Brew
Producer: 20140603
In:
The Journal of clinical endocrinology and metabolism vol. 99
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2964.
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2965.
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Novel de novo mutations of the interleukin-10 receptor gene lead to infantile onset inflammatory bowel disease. [electronic resource] by
- Lee, Cheng Hiang
- Hsu, Peter
- Nanan, Brigitte
- Nanan, Ralph
- Wong, Melanie
- Gaskin, Kevin J
- Leong, Rupert W
- Murchie, Ryan
- Muise, Aleixo M
- Stormon, Michael O
Producer: 20150831
In:
Journal of Crohn's & colitis vol. 8
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2966.
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2967.
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Immunodeficiency and severe susceptibility to bacterial infection associated with a loss-of-function homozygous mutation of MKL1. [electronic resource] by
- Record, Julien
- Malinova, Dessislava
- Zenner, Helen L
- Plagnol, Vincent
- Nowak, Karolin
- Syed, Farhatullah
- Bouma, Gerben
- Curtis, James
- Gilmour, Kimberly
- Cale, Catherine
- Hackett, Scott
- Charras, Guillaume
- Moulding, Dale
- Nejentsev, Sergey
- Thrasher, Adrian J
- Burns, Siobhan O
Producer: 20151221
In:
Blood vol. 126
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A novel missense mutation in the FGB gene (p.Gly302Arg) leading to afibrinogenemia. Predicted structure and function consequences. [electronic resource] by
- Ivaškevičius, V
- Rühl, H
- Detarsio, G
- Biswas, A
- Gupta, S
- Davoli, M
- Quartara, A
- Pérez, S
- Raviola, M
- Oldenburg, J
Producer: 20170601
In:
Hamostaseologie vol. 36
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2973.
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2974.
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Allelic variation of the rice blast resistance gene Pid3 in cultivated rice worldwide. [electronic resource] by
- Lv, Qiming
- Huang, Zhiyuan
- Xu, Xiao
- Tang, Li
- Liu, Hai
- Wang, Chunchao
- Zhou, Zhuangzhi
- Xin, Yeyun
- Xing, Junjie
- Peng, Zhirong
- Li, Xiaobing
- Zheng, Tianqing
- Zhu, Lihuang
Producer: 20190503
In:
Scientific reports vol. 7
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2975.
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Exome sequencing in multiple sclerosis families identifies 12 candidate genes and nominates biological pathways for the genesis of disease. [electronic resource] by
- Vilariño-Güell, Carles
- Zimprich, Alexander
- Martinelli-Boneschi, Filippo
- Herculano, Bruno
- Wang, Zhe
- Matesanz, Fuencisla
- Urcelay, Elena
- Vandenbroeck, Koen
- Leyva, Laura
- Gris, Denis
- Massaad, Charbel
- Quandt, Jacqueline A
- Traboulsee, Anthony L
- Encarnacion, Mary
- Bernales, Cecily Q
- Follett, Jordan
- Yee, Irene M
- Criscuoli, Maria G
- Deutschländer, Angela
- Reinthaler, Eva M
- Zrzavy, Tobias
- Mascia, Elisabetta
- Zauli, Andrea
- Esposito, Federica
- Alcina, Antonio
- Izquierdo, Guillermo
- Espino-Paisán, Laura
- Mena, Jorge
- Antigüedad, Alfredo
- Urbaneja-Romero, Patricia
- Ortega-Pinazo, Jesús
- Song, Weihong
- Sadovnick, A Dessa
Producer: 20191106
In:
PLoS genetics vol. 15
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2976.
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Genetic and animal model analyses reveal the pathogenic role of a novel deletion of RELN in schizophrenia. [electronic resource] by
- Sobue, Akira
- Kushima, Itaru
- Nagai, Taku
- Shan, Wei
- Kohno, Takao
- Aleksic, Branko
- Aoyama, Yuki
- Mori, Daisuke
- Arioka, Yuko
- Kawano, Naoko
- Yamamoto, Maeri
- Hattori, Mitsuharu
- Nabeshima, Toshitaka
- Yamada, Kiyofumi
- Ozaki, Norio
Producer: 20191104
In:
Scientific reports vol. 8
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2977.
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2978.
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2979.
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Hypotrichosis simplex of the scalp is associated with nonsense mutations in CDSN encoding corneodesmosin. [electronic resource] by
- Levy-Nissenbaum, Etgar
- Betz, Regina C
- Frydman, Moshe
- Simon, Michel
- Lahat, Hadas
- Bakhan, Tengiz
- Goldman, Boleslaw
- Bygum, Anette
- Pierick, Monika
- Hillmer, Axel M
- Jonca, Nathalie
- Toribio, Jaime
- Kruse, Roland
- Dewald, Georg
- Cichon, Sven
- Kubisch, Christian
- Guerrin, Marina
- Serre, Guy
- Nöthen, Markus M
- Pras, Elon
Producer: 20030703
In:
Nature genetics vol. 34
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