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3661.
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DEGS1 variant causes neurological disorder. [electronic resource] by
- Dolgin, Vadim
- Straussberg, Rachel
- Xu, Ruijuan
- Mileva, Izolda
- Yogev, Yuval
- Khoury, Raed
- Konen, Osnat
- Barhum, Yael
- Zvulunov, Alex
- Mao, Cungui
- Birk, Ohad S
Producer: 20200720
In:
European journal of human genetics : EJHG vol. 27
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3662.
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Three additional patients with EED-associated overgrowth: potential mutation hotspots identified? [electronic resource] by
- Spellicy, Catherine J
- Peng, Yunhui
- Olewiler, Leah
- Cathey, Sara S
- Rogers, R Curtis
- Bartholomew, Dennis
- Johnson, Jacob
- Alexov, Emil
- Lee, Jennifer A
- Friez, Michael J
- Jones, Julie R
Producer: 20190904
In:
Journal of human genetics vol. 64
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3663.
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SDHA gain-of-function engages inflammatory mitochondrial retrograde signaling via KEAP1-Nrf2. [electronic resource] by
- Burgener, Anne-Valérie
- Bantug, Glenn R
- Meyer, Benedikt J
- Higgins, Rebecca
- Ghosh, Adhideb
- Bignucolo, Olivier
- Ma, Eric H
- Loeliger, Jordan
- Unterstab, Gunhild
- Geigges, Marco
- Steiner, Rebekah
- Enamorado, Michel
- Ivanek, Robert
- Hunziker, Danielle
- Schmidt, Alexander
- Müller-Durovic, Bojana
- Grählert, Jasmin
- Epple, Raja
- Dimeloe, Sarah
- Lötscher, Jonas
- Sauder, Ursula
- Ebnöther, Monika
- Burger, Bettina
- Heijnen, Ingmar
- Martínez-Cano, Sarai
- Cantoni, Nathan
- Brücker, Rolf
- Kahlert, Christian R
- Sancho, David
- Jones, Russell G
- Navarini, Alexander
- Recher, Mike
- Hess, Christoph
Producer: 20200305
In:
Nature immunology vol. 20
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3664.
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3665.
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Recurrent hotspot mutations in HRAS Q61 and PI3K-AKT pathway genes as drivers of breast adenomyoepitheliomas. [electronic resource] by
- Geyer, Felipe C
- Li, Anqi
- Papanastasiou, Anastasios D
- Smith, Alison
- Selenica, Pier
- Burke, Kathleen A
- Edelweiss, Marcia
- Wen, Huei-Chi
- Piscuoglio, Salvatore
- Schultheis, Anne M
- Martelotto, Luciano G
- Pareja, Fresia
- Kumar, Rahul
- Brandes, Alissa
- Fan, Dan
- Basili, Thais
- Da Cruz Paula, Arnaud
- Lozada, John R
- Blecua, Pedro
- Muenst, Simone
- Jungbluth, Achim A
- Foschini, Maria P
- Wen, Hannah Y
- Brogi, Edi
- Palazzo, Juan
- Rubin, Brian P
- Ng, Charlotte K Y
- Norton, Larry
- Varga, Zsuzsanna
- Ellis, Ian O
- Rakha, Emad A
- Chandarlapaty, Sarat
- Weigelt, Britta
- Reis-Filho, Jorge S
Producer: 20181218
In:
Nature communications vol. 9
Availability: No items available.
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3666.
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Assessment of a Targeted Gene Panel for Identification of Genes Associated With Movement Disorders. [electronic resource] by
- Montaut, Solveig
- Tranchant, Christine
- Drouot, Nathalie
- Rudolf, Gabrielle
- Guissart, Claire
- Tarabeux, Julien
- Stemmelen, Tristan
- Velt, Amandine
- Fourrage, Cécile
- Nitschké, Patrick
- Gerard, Bénédicte
- Mandel, Jean-Louis
- Koenig, Michel
- Chelly, Jamel
- Anheim, Mathieu
Producer: 20191008
In:
JAMA neurology vol. 75
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3667.
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Genetic Variants Associated with Episodic Ataxia in Korea. [electronic resource] by
- Choi, Kwang-Dong
- Kim, Ji-Soo
- Kim, Hyo-Jung
- Jung, Ileok
- Jeong, Seong-Hae
- Lee, Seung-Han
- Kim, Dong Uk
- Kim, Sang-Ho
- Choi, Seo Young
- Shin, Jin-Hong
- Kim, Dae-Seong
- Park, Kyung-Pil
- Kim, Hyang-Sook
- Choi, Jae-Hwan
Producer: 20190716
In:
Scientific reports vol. 7
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3668.
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Contribution of ultrarare variants in mTOR pathway genes to sporadic focal epilepsies. [electronic resource] by
- Pippucci, Tommaso
- Licchetta, Laura
- Baldassari, Sara
- Marconi, Caterina
- De Luise, Monica
- Myers, Candace
- Nardi, Elena
- Provini, Federica
- Cameli, Cinzia
- Minardi, Raffaella
- Bacchelli, Elena
- Giordano, Lucio
- Crichiutti, Giovanni
- d'Orsi, Giuseppe
- Seri, Marco
- Gasparre, Giuseppe
- Mefford, Heather C
- Tinuper, Paolo
- Bisulli, Francesca
Producer: 20200320
In:
Annals of clinical and translational neurology vol. 6
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3669.
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Identification of novel pathogenic copy number variations in Charcot-Marie-Tooth disease. [electronic resource] by
- Mortreux, J
- Bacquet, J
- Boyer, A
- Alazard, E
- Bellance, R
- Giguet-Valard, A G
- Cerino, M
- Krahn, M
- Audic, F
- Chabrol, B
- Laugel, V
- Desvignes, J P
- Béroud, C
- Nguyen, K
- Verschueren, A
- Lévy, N
- Attarian, S
- Delague, V
- Missirian, C
- Bonello-Palot, N
Producer: 20201009
In:
Journal of human genetics vol. 65
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3670.
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3671.
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Genomic evolution of ibrutinib-resistant clones in Waldenström macroglobulinaemia. [electronic resource] by
- Jiménez, Cristina
- Chan, Gloria G
- Xu, Lian
- Tsakmaklis, Nickolas
- Kofides, Amanda
- Demos, Maria G
- Chen, Jiaji
- Liu, Xia
- Munshi, Manit
- Yang, Guang
- Castillo, Jorge J
- Wiestner, Adrian
- García-Sanz, Ramón
- Treon, Steven P
- Hunter, Zachary R
Producer: 20210125
In:
British journal of haematology vol. 189
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3672.
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3673.
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3674.
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Variant PIK3R1 Hypermorphic Mutation and Clinical Phenotypes in a Family with Short Statures, Mild Immunodeficiency and Lymphoma. [electronic resource] by
- Hauck, Fabian
- Magg, Thomas
- Krolo, Ana
- Bilic, Ivan
- Hirschmugl, Tatjana
- Laass, Martin
- Rösen-Wolff, Angela
- Luksch, Hella
- Boztug, Kaan
- Roesler, Joachim
Producer: 20180618
In:
Klinische Padiatrie vol. 229
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3675.
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Detection of copy number variations in epilepsy using exome data. [electronic resource] by
- Tsuchida, N
- Nakashima, M
- Kato, M
- Heyman, E
- Inui, T
- Haginoya, K
- Watanabe, S
- Chiyonobu, T
- Morimoto, M
- Ohta, M
- Kumakura, A
- Kubota, M
- Kumagai, Y
- Hamano, S-I
- Lourenco, C M
- Yahaya, N A
- Ch'ng, G-S
- Ngu, L-H
- Fattal-Valevski, A
- Weisz Hubshman, M
- Orenstein, N
- Marom, D
- Cohen, L
- Goldberg-Stern, H
- Uchiyama, Y
- Imagawa, E
- Mizuguchi, T
- Takata, A
- Miyake, N
- Nakajima, H
- Saitsu, H
- Miyatake, S
- Matsumoto, N
Producer: 20190911
In:
Clinical genetics vol. 93
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3676.
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Rare coding variants in MAPK7 predispose to adolescent idiopathic scoliosis. [electronic resource] by
- Gao, Wenjie
- Chen, Chong
- Zhou, Taifeng
- Yang, Shulan
- Gao, Bo
- Zhou, Hang
- Lian, Chengjie
- Wu, Zizhao
- Qiu, Xianjian
- Yang, Xiaoming
- Alattar, Esam
- Liu, Wentao
- Su, Deying
- Sun, Silong
- Chen, Yulan
- Cheung, Kenneth M C
- Song, Youqiang
- Luk, Keith K D
- Chan, Danny
- Sham, Pak Chung
- Xing, Chao
- Khor, Chiea Chuen
- Liu, Gabriel
- Yang, Junlin
- Deng, Yubin
- Hao, Dingjun
- Huang, Dongsheng
- Li, Quan-Zhen
- Xu, Caixia
- Su, Peiqiang
Producer: 20180530
In:
Human mutation vol. 38
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3677.
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The Heterogeneity Between Lynch-Associated and Sporadic MMR Deficiency in Colorectal Cancers. [electronic resource] by
- Liu, Guo-Chen
- Liu, Ran-Yi
- Yan, Jun-Ping
- An, Xin
- Jiang, Wu
- Ling, Yi-Hong
- Chen, Jie-Wei
- Bei, Jin-Xin
- Zuo, Xiao-Yu
- Cai, Mu-Yan
- Liu, Ze-Xian
- Zuo, Zhi-Xiang
- Liu, Ji-Hong
- Pan, Zhi-Zhong
- Ding, Pei-Rong
Producer: 20190930
In:
Journal of the National Cancer Institute vol. 110
Availability: No items available.
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3678.
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Pediatric Dilated Cardiomyopathy-Associated [electronic resource] by
- Woon, Marites T
- Long, Pamela A
- Reilly, Louise
- Evans, Jared M
- Keefe, Alexis M
- Lea, Martin R
- Beglinger, Carl J
- Balijepalli, Ravi C
- Lee, Youngsook
- Olson, Timothy M
- Kamp, Timothy J
Producer: 20191210
In:
Journal of the American Heart Association vol. 7
Availability: No items available.
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3679.
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3680.
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