Results
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3201.
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3202.
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The role of de novo mutations in the development of amyotrophic lateral sclerosis. [electronic resource] by
- van Doormaal, Perry T C
- Ticozzi, Nicola
- Weishaupt, Jochen H
- Kenna, Kevin
- Diekstra, Frank P
- Verde, Federico
- Andersen, Peter M
- Dekker, Annelot M
- Tiloca, Cinzia
- Marroquin, Nicolai
- Overste, Daniel J
- Pensato, Viviana
- Nürnberg, Peter
- Pulit, Sara L
- Schellevis, Raymond D
- Calini, Daniela
- Altmüller, Janine
- Francioli, Laurent C
- Muller, Bernard
- Castellotti, Barbara
- Motameny, Susanne
- Ratti, Antonia
- Wolf, Joachim
- Gellera, Cinzia
- Ludolph, Albert C
- van den Berg, Leonard H
- Kubisch, Christian
- Landers, John E
- Veldink, Jan H
- Silani, Vincenzo
- Volk, Alexander E
Producer: 20180530
In:
Human mutation vol. 38
Availability: No items available.
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3203.
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Identification of STXBP2 as a novel susceptibility locus for myocardial infarction in Japanese individuals by an exome-wide association study. [electronic resource] by
- Yamada, Yoshiji
- Sakuma, Jun
- Takeuchi, Ichiro
- Yasukochi, Yoshiki
- Kato, Kimihiko
- Oguri, Mitsutoshi
- Fujimaki, Tetsuo
- Horibe, Hideki
- Muramatsu, Masaaki
- Sawabe, Motoji
- Fujiwara, Yoshinori
- Taniguchi, Yu
- Obuchi, Shuichi
- Kawai, Hisashi
- Shinkai, Shoji
- Mori, Seijiro
- Arai, Tomio
- Tanaka, Masashi
Producer: 20180305
In:
Oncotarget vol. 8
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3204.
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3205.
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Integrating exome sequencing into a diagnostic pathway for epileptic encephalopathy: Evidence of clinical utility and cost effectiveness. [electronic resource] by
- Palmer, Elizabeth E
- Schofield, Deborah
- Shrestha, Rupendra
- Kandula, Tejaswi
- Macintosh, Rebecca
- Lawson, John A
- Andrews, Ian
- Sampaio, Hugo
- Johnson, Alexandra M
- Farrar, Michelle A
- Cardamone, Michael
- Mowat, David
- Elakis, George
- Lo, William
- Zhu, Ying
- Ying, Kevin
- Morris, Paula
- Tao, Jiang
- Dias, Kerith-Rae
- Buckley, Michael
- Dinger, Marcel E
- Cowley, Mark J
- Roscioli, Tony
- Kirk, Edwin P
- Bye, Ann
- Sachdev, Rani K
Producer: 20180924
In:
Molecular genetics & genomic medicine vol. 6
Availability: No items available.
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3206.
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Identification of GAA variants through whole exome sequencing targeted to a cohort of 606 patients with unexplained limb-girdle muscle weakness. [electronic resource] by
- Johnson, Katherine
- Töpf, Ana
- Bertoli, Marta
- Phillips, Lauren
- Claeys, Kristl G
- Stojanovic, Vidosava Rakocevic
- Perić, Stojan
- Hahn, Andreas
- Maddison, Paul
- Akay, Ela
- Bastian, Alexandra E
- Łusakowska, Anna
- Kostera-Pruszczyk, Anna
- Lek, Monkol
- Xu, Liwen
- MacArthur, Daniel G
- Straub, Volker
Producer: 20180720
In:
Orphanet journal of rare diseases vol. 12
Availability: No items available.
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3207.
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Salivary Gland Cancer Patient-Derived Xenografts Enable Characterization of Cancer Stem Cells and New Gene Events Associated with Tumor Progression. [electronic resource] by
- Keysar, Stephen B
- Eagles, Justin R
- Miller, Bettina
- Jackson, Brian C
- Chowdhury, Farshad N
- Reisinger, Julie
- Chimed, Tugs-Saikhan
- Le, Phuong N
- Morton, John J
- Somerset, Hilary L
- Varella-Garcia, Marileila
- Tan, Aik-Choon
- Song, John I
- Bowles, Daniel W
- Reyland, Mary E
- Jimeno, Antonio
Producer: 20191119
In:
Clinical cancer research : an official journal of the American Association for Cancer Research vol. 24
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3208.
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De novo variants in SETD1B are associated with intellectual disability, epilepsy and autism. [electronic resource] by
- Hiraide, Takuya
- Nakashima, Mitsuko
- Yamoto, Kaori
- Fukuda, Tokiko
- Kato, Mitsuhiro
- Ikeda, Hiroko
- Sugie, Yoko
- Aoto, Kazushi
- Kaname, Tadashi
- Nakabayashi, Kazuhiko
- Ogata, Tsutomu
- Matsumoto, Naomichi
- Saitsu, Hirotomo
Producer: 20190415
In:
Human genetics vol. 137
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3209.
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Homozygous p.Ser267Phe in SLC10A1 is associated with a new type of hypercholanemia and implications for personalized medicine. [electronic resource] by
- Liu, Ruihong
- Chen, Chuming
- Xia, Xuefeng
- Liao, Qijun
- Wang, Qiong
- Newcombe, Paul J
- Xu, Shuhua
- Chen, Minghui
- Ding, Yue
- Li, Xiaoying
- Liao, Zhihong
- Li, Fucheng
- Du, Minlian
- Huang, Huaiqiu
- Dong, Ruimin
- Deng, Weiping
- Wang, Ye
- Zeng, Binghui
- Pan, Qihao
- Jiang, Danhua
- Zeng, Hao
- Sham, Pak
- Cao, Yingnan
- Maxwell, Patrick H
- Gao, Zhi-Liang
- Peng, Liang
- Wang, Yiming
Producer: 20190411
In:
Scientific reports vol. 7
Availability: No items available.
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3210.
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Progressive Pseudorheumatoid Dysplasia resolved by whole exome sequencing: a novel mutation in WISP3 and review of the literature. [electronic resource] by
- Pode-Shakked, Ben
- Vivante, Asaf
- Barel, Ortal
- Padeh, Shai
- Marek-Yagel, Dina
- Veber, Alvit
- Abudi, Shachar
- Eliyahu, Aviva
- Tirosh, Irit
- Shpilman, Shiri
- Shril, Shirlee
- Hildebrandt, Friedhelm
- Shohat, Mordechai
- Anikster, Yair
Producer: 20190820
In:
BMC medical genetics vol. 20
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3211.
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Novel LRBA Mutation and Possible Germinal Mosaicism in a Slavic Family. [electronic resource] by
- Sharapova, Svetlana O
- Haapaniemi, Emma
- Sakovich, Inga S
- Rojas, Jessica
- Gámez-Díaz, Laura
- Mareika, Yuliya E
- Guryanova, Irina E
- Migas, Alexandr A
- Mikhaleuskaya, Taisiya M
- Grimbacher, Bodo
- Aleinikova, Olga V
Producer: 20191014
In:
Journal of clinical immunology vol. 38
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3212.
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3213.
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3214.
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Axitinib in Combination With Toripalimab, a Humanized Immunoglobulin G [electronic resource] by
- Sheng, Xinan
- Yan, Xieqiao
- Chi, Zhihong
- Si, Lu
- Cui, Chuanliang
- Tang, Bixia
- Li, Siming
- Mao, Lili
- Lian, Bin
- Wang, Xuan
- Bai, Xue
- Zhou, Li
- Kong, Yan
- Dai, Jie
- Wang, Kai
- Tang, Xiongwen
- Zhou, Huaning
- Wu, Hai
- Feng, Hui
- Yao, Sheng
- Flaherty, Keith T
- Guo, Jun
Producer: 20200624
In:
Journal of clinical oncology : official journal of the American Society of Clinical Oncology vol. 37
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3215.
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Detection and isolation of disseminated tumor cells in bone marrow of patients with clinically localized prostate cancer. [electronic resource] by
- Cackowski, Frank C
- Wang, Yugang
- Decker, Joseph T
- Sifuentes, Christopher
- Weindorf, Steven
- Jung, Younghun
- Wang, Yu
- Decker, Ann M
- Yumoto, Kenji
- Szerlip, Nicholas
- Buttitta, Laura
- Pienta, Kenneth J
- Morgan, Todd M
- Taichman, Russell S
Producer: 20200218
In:
The Prostate vol. 79
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3216.
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3217.
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3218.
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Setup and Validation of a Targeted Next-Generation Sequencing Approach for the Diagnosis of Lysosomal Storage Disorders. [electronic resource] by
- Zanetti, Alessandra
- D'Avanzo, Francesca
- Bertoldi, Loris
- Zampieri, Guido
- Feltrin, Erika
- De Pascale, Fabio
- Rampazzo, Angelica
- Forzan, Monica
- Valle, Giorgio
- Tomanin, Rosella
Producer: 20210604
In:
The Journal of molecular diagnostics : JMD vol. 22
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3219.
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Integrative genomic study of Chinese clear cell renal cell carcinoma reveals features associated with thrombus. [electronic resource] by
- Wang, Xiang-Ming
- Lu, Yang
- Song, Yi-Meng
- Dong, Jun
- Li, Ruo-Yan
- Wang, Guo-Liang
- Wang, Xu
- Zhang, Shu-Dong
- Dong, Zhou-Huan
- Lu, Min
- Wang, Shi-Yu
- Ge, Li-Yuan
- Luo, Guang-Da
- Ma, Run-Zhuo
- George Rozen, Steve
- Bai, Fan
- Wu, Di
- Ma, Lu-Lin
Producer: 20200427
In:
Nature communications vol. 11
Availability: No items available.
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3220.
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