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3681.
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Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy. [electronic resource] by
- Friedman, Jennifer
- Smith, Desiree E
- Issa, Mahmoud Y
- Stanley, Valentina
- Wang, Rengang
- Mendes, Marisa I
- Wright, Meredith S
- Wigby, Kristen
- Hildreth, Amber
- Crawford, John R
- Koehler, Alanna E
- Chowdhury, Shimul
- Nahas, Shareef
- Zhai, Liting
- Xu, Zhiwen
- Lo, Wing-Sze
- James, Kiely N
- Musaev, Damir
- Accogli, Andrea
- Guerrero, Kether
- Tran, Luan T
- Omar, Tarek E I
- Ben-Omran, Tawfeg
- Dimmock, David
- Kingsmore, Stephen F
- Salomons, Gajja S
- Zaki, Maha S
- Bernard, Geneviève
- Gleeson, Joseph G
Producer: 20190411
In:
Nature communications vol. 10
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3682.
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3683.
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3684.
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3685.
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TBX6 missense variants expand the mutational spectrum in a non-Mendelian inheritance disease. [electronic resource] by
- Chen, Weisheng
- Lin, Jiachen
- Wang, Lianlei
- Li, Xiaoxin
- Zhao, Sen
- Liu, Jiaqi
- Akdemir, Zeynep C
- Zhao, Yanxue
- Du, Renqian
- Ye, Yongyu
- Song, Xiaofei
- Zhang, Yuanqiang
- Yan, Zihui
- Yang, Xinzhuang
- Lin, Mao
- Shen, Jianxiong
- Wang, Shengru
- Gao, Na
- Yang, Ying
- Liu, Ying
- Li, Wenli
- Liu, Jia
- Zhang, Na
- Yang, Xu
- Xu, Yuan
- Zhang, Jianguo
- Delgado, Mauricio R
- Posey, Jennifer E
- Qiu, Guixing
- Rios, Jonathan J
- Liu, Pengfei
- Wise, Carol A
- Zhang, Feng
- Wu, Zhihong
- Lupski, James R
- Wu, Nan
Producer: 20210519
In:
Human mutation vol. 41
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3686.
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3687.
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Monoallelic Mutations to DNAJB11 Cause Atypical Autosomal-Dominant Polycystic Kidney Disease. [electronic resource] by
- Cornec-Le Gall, Emilie
- Olson, Rory J
- Besse, Whitney
- Heyer, Christina M
- Gainullin, Vladimir G
- Smith, Jessica M
- Audrézet, Marie-Pierre
- Hopp, Katharina
- Porath, Binu
- Shi, Beili
- Baheti, Saurabh
- Senum, Sarah R
- Arroyo, Jennifer
- Madsen, Charles D
- Férec, Claude
- Joly, Dominique
- Jouret, François
- Fikri-Benbrahim, Oussamah
- Charasse, Christophe
- Coulibaly, Jean-Marie
- Yu, Alan S
- Khalili, Korosh
- Pei, York
- Somlo, Stefan
- Le Meur, Yannick
- Torres, Vicente E
- Harris, Peter C
Producer: 20181211
In:
American journal of human genetics vol. 102
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3688.
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The Immune Microenvironment and Neoantigen Landscape of Aggressive Salivary Gland Carcinomas Differ by Subtype. [electronic resource] by
- Linxweiler, Maximilian
- Kuo, Fengshen
- Katabi, Nora
- Lee, Mark
- Nadeem, Zaineb
- Dalin, Martin G
- Makarov, Vladimir
- Chowell, Diego
- Dogan, Snjezana
- Ganly, Ian
- Hakimi, A Ari
- Wong, Richard J
- Riaz, Nadeem
- Ho, Alan L
- Chan, Timothy A
- Morris, Luc G T
Producer: 20210913
In:
Clinical cancer research : an official journal of the American Association for Cancer Research vol. 26
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3689.
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3690.
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Genes identified through genome-wide association studies of osteonecrosis in childhood acute lymphoblastic leukemia patients. [electronic resource] by
- Gagné, Vincent
- Aubry-Morin, Anne
- Plesa, Maria
- Abaji, Rachid
- Petrykey, Kateryna
- St-Onge, Pascal
- Beaulieu, Patrick
- Laverdière, Caroline
- Alos, Nathalie
- Leclerc, Jean-Marie
- Sallan, Stephen E
- Neuberg, Donna
- Kutok, Jeffery L
- Silverman, Lewis B
- Sinnett, Daniel
- Krajinovic, Maja
Producer: 20200721
In:
Pharmacogenomics vol. 20
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3691.
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Identification of recurrent FHL2-GLI2 oncogenic fusion in sclerosing stromal tumors of the ovary. [electronic resource] by
- Kim, Sarah H
- Da Cruz Paula, Arnaud
- Basili, Thais
- Dopeso, Higinio
- Bi, Rui
- Pareja, Fresia
- da Silva, Edaise M
- Gularte-Mérida, Rodrigo
- Sun, Zhen
- Fujisawa, Sho
- Smith, Caitlin G
- Ferrando, Lorenzo
- Martins Sebastião, Ana Paula
- Bykov, Yonina
- Li, Anqi
- Silveira, Catarina
- Ashley, Charles W
- Stylianou, Anthe
- Selenica, Pier
- Samore, Wesley R
- Jungbluth, Achim A
- Zamarin, Dmitriy
- Abu-Rustum, Nadeem R
- Helin, Kristian
- Soslow, Robert A
- Reis-Filho, Jorge S
- Oliva, Esther
- Weigelt, Britta
Producer: 20200413
In:
Nature communications vol. 11
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3692.
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Telomerase Reverse Transcriptase Promoter Mutations Identify a Genomically Defined and Highly Aggressive Human Pleural Mesothelioma Subgroup. [electronic resource] by
- Pirker, Christine
- Bilecz, Agnes
- Grusch, Michael
- Mohr, Thomas
- Heidenreich, Barbara
- Laszlo, Viktoria
- Stockhammer, Paul
- Lötsch-Gojo, Daniela
- Gojo, Johannes
- Gabler, Lisa
- Spiegl-Kreinecker, Sabine
- Dome, Balazs
- Steindl, Ariane
- Klikovits, Thomas
- Hoda, Mir Alireza
- Jakopovic, Marko
- Samarzija, Miroslav
- Mohorcic, Katja
- Kern, Izidor
- Kiesel, Barbara
- Brcic, Luka
- Oberndorfer, Felicitas
- Müllauer, Leonhard
- Klepetko, Walter
- Schmidt, Wolfgang M
- Kumar, Rajiv
- Hegedus, Balazs
- Berger, Walter
Producer: 20211102
In:
Clinical cancer research : an official journal of the American Association for Cancer Research vol. 26
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3693.
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Screening of dementia genes by whole-exome sequencing in Spanish patients with early-onset dementia: likely pathogenic, uncertain significance and risk variants. [electronic resource] by
- Ramos-Campoy, Oscar
- Antonell, Anna
- Falgàs, Neus
- Balasa, Mircea
- Borrego-Écija, Sergi
- Rodríguez-Santiago, Benjamín
- Datta, Debayan
- Armengol, Lluís
- Fernández-Villullas, Guadalupe
- Bosch, Beatriz
- Olives, Jaume
- Muñoz-García, Cristina
- Castellví, Magdalena
- Tort-Merino, Adrià
- Sánchez-Valle, Raquel
- Lladó, Albert
Producer: 20210115
In:
Neurobiology of aging vol. 93
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3694.
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Genetic Landscape of Congenital Myasthenic Syndromes From Turkey: Novel Mutations and Clinical Insights. [electronic resource] by
- Yiş, Uluç
- Becker, Kerstin
- Kurul, Semra Hız
- Uyanik, Gökhan
- Bayram, Erhan
- Haliloğlu, Göknur
- Polat, Ayşe İpek
- Ayanoğlu, Müge
- Okur, Derya
- Tosun, Ayşe Fahriye
- Serdaroğlu, Gül
- Yilmaz, Sanem
- Topaloğlu, Haluk
- Anlar, Banu
- Cirak, Sebahattin
- Engel, Andrew G
Producer: 20180426
In:
Journal of child neurology vol. 32
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3695.
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3696.
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Loss of function mutations in EPHB4 are responsible for vein of Galen aneurysmal malformation. [electronic resource] by
- Vivanti, Alexandre
- Ozanne, Augustin
- Grondin, Cynthia
- Saliou, Guillaume
- Quevarec, Loic
- Maurey, Helène
- Aubourg, Patrick
- Benachi, Alexandra
- Gut, Marta
- Gut, Ivo
- Martinovic, Jelena
- Sénat, Marie Victoire
- Tawk, Marcel
- Melki, Judith
Producer: 20190628
In:
Brain : a journal of neurology vol. 141
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3697.
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3698.
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A novel variant in MITF in a child from Yunnan-Guizhou Plateau with autosomal dominant inheritance of nonsyndromic hearing loss: A case report. [electronic resource] by
- Zhang, Zhen
- Chen, Quan-Dong
- Zhao, Li-Ping
- Ma, Jing
- Zhang, Tie-Song
- Pang, Jing-Xue
- Li, Yang-Fang
- Wang, Mei-Fen
- Wang, Ai-Ping
- Tang, Li
- Li, Li-Jun
- He, Wen-Ji
- Gu, Huaiyu
Producer: 20180830
In:
Molecular medicine reports vol. 17
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3699.
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Functional Precision Medicine Identifies Novel Druggable Targets and Therapeutic Options in Head and Neck Cancer. [electronic resource] by
- Xu, Chang
- Nikolova, Olga
- Basom, Ryan S
- Mitchell, Ryan M
- Shaw, Reid
- Moser, Russell D
- Park, Heuijoon
- Gurley, Kay E
- Kao, Michael C
- Green, Carlos L
- Schaub, Franz X
- Diaz, Robert L
- Swan, Hallie A
- Jang, In S
- Guinney, Justin
- Gadi, Vijayakrishna K
- Margolin, Adam A
- Grandori, Carla
- Kemp, Christopher J
- Méndez, Eduardo
Producer: 20191119
In:
Clinical cancer research : an official journal of the American Association for Cancer Research vol. 24
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3700.
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Whole-exome sequencing identified mutational profiles of high-grade colon adenomas. [electronic resource] by
- Lee, Sung Hak
- Jung, Seung Hyun
- Kim, Tae-Min
- Rhee, Je-Keun
- Park, Hyeon-Chun
- Kim, Min Sung
- Kim, Sung Soo
- An, Chang Hyeok
- Lee, Sug Hyung
- Chung, Yeun-Jun
Producer: 20180222
In:
Oncotarget vol. 8
Availability: No items available.
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