Results
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3001.
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Pathogenic variants in [electronic resource] by
- Granadillo, Jorge Luis
- P A Stegmann, Alexander
- Guo, Hui
- Xia, Kun
- Angle, Brad
- Bontempo, Kelly
- Ranells, Judith D
- Newkirk, Patricia
- Costin, Carrie
- Viront, Joleen
- Stumpel, Constanze T
- Sinnema, Margje
- Panis, Bianca
- Pfundt, Rolph
- Krapels, Ingrid P C
- Klaassens, Merel
- Nicolai, Joost
- Li, Jinliang
- Jiang, Yuwu
- Marco, Elysa
- Canton, Ana
- Latronico, Ana Claudia
- Montenegro, Luciana
- Leheup, Bruno
- Bonnet, Celine
- M Amudhavalli, Shivarajan
- Lawson, Caitlin E
- McWalter, Kirsty
- Telegrafi, Aida
- Pearson, Richard
- Kvarnung, Malin
- Wang, Xia
- Bi, Weimin
- Rosenfeld, Jill Anne
- Shinawi, Marwan
Producer: 20210708
In:
Journal of medical genetics vol. 57
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3002.
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Diffuse intrinsic pontine glioma-like tumor with EZHIP expression and molecular features of PFA ependymoma. [electronic resource] by
- Pratt, Drew
- Quezado, Martha
- Abdullaev, Zied
- Hawes, Debra
- Yang, Fusheng
- Garton, Hugh J L
- Judkins, Alexander R
- Mody, Rajen
- Chinnaiyan, Arul
- Aldape, Kenneth
- Koschmann, Carl
- Venneti, Sriram
Producer: 20210115
In:
Acta neuropathologica communications vol. 8
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3003.
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3004.
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Podoplanin-positive cancer-associated fibroblast recruitment within cancer stroma is associated with a higher number of single nucleotide variants in cancer cells in lung adenocarcinoma. [electronic resource] by
- Nakasone, Shoko
- Mimaki, Sachiyo
- Ichikawa, Tomohiro
- Aokage, Keiju
- Miyoshi, Tomohiro
- Sugano, Masato
- Kojima, Motohiro
- Fujii, Satoshi
- Kuwata, Takeshi
- Ochiai, Atsushi
- Tsuboi, Masahiro
- Goto, Koichi
- Tsuchihara, Katsuya
- Ishii, Genichiro
Producer: 20180507
In:
Journal of cancer research and clinical oncology vol. 144
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3005.
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Whole-exome Sequencing Helps the Diagnosis and Treatment in Children with Neurodevelopmental Delay Accompanied Unexplained Dyspnea. [electronic resource] by
- Tong, Wenjia
- Wang, Yajian
- Lu, Yun
- Ye, Tongsheng
- Song, Conglei
- Xu, Yuanyuan
- Li, Min
- Ding, Jie
- Duan, Yuanyuan
- Zhang, Le
- Gu, Weiyue
- Zhao, Xiaoling
- Yang, Xiu-An
- Jin, Danqun
Producer: 20190925
In:
Scientific reports vol. 8
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3006.
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3007.
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Founder Mutations for Early Onset Melanoma as Revealed by Whole Exome Sequencing Suggests That This is Not Associated with the Increasing Incidence of Melanoma in Poland. [electronic resource] by
- Dębniak, Tadeusz
- Scott, Rodney J
- Lea, Rodney A
- Górski, Bohdan
- Masojć, Bartłomiej
- Cybulski, Cezary
- Kram, Andrzej
- Maleszka, Romuald
- Gromowski, Tomasz
- Paszkowska-Szczur, Katarzyna
- Kashyap, Aniruddh
- Lener, Marcin R
- Malińska, Karolina
- Rogoża, Emilia
- Murawa, Dawid
- Rudnicka, Helena
- Deptuła, Jakub
- Lubiński, Jan
Producer: 20190419
In:
Cancer research and treatment vol. 51
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3008.
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Parental haplotype-specific single-cell transcriptomics reveal incomplete epigenetic reprogramming in human female germ cells. [electronic resource] by
- Vértesy, Ábel
- Arindrarto, Wibowo
- Roost, Matthias S
- Reinius, Björn
- Torrens-Juaneda, Vanessa
- Bialecka, Monika
- Moustakas, Ioannis
- Ariyurek, Yavuz
- Kuijk, Ewart
- Mei, Hailiang
- Sandberg, Rickard
- van Oudenaarden, Alexander
- Chuva de Sousa Lopes, Susana M
Producer: 20181127
In:
Nature communications vol. 9
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3009.
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3010.
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Whole exome sequencing study identifies novel rare and common Alzheimer's-Associated variants involved in immune response and transcriptional regulation. [electronic resource] by
- Bis, Joshua C
- Jian, Xueqiu
- Kunkle, Brian W
- Chen, Yuning
- Hamilton-Nelson, Kara L
- Bush, William S
- Salerno, William J
- Lancour, Daniel
- Ma, Yiyi
- Renton, Alan E
- Marcora, Edoardo
- Farrell, John J
- Zhao, Yi
- Qu, Liming
- Ahmad, Shahzad
- Amin, Najaf
- Amouyel, Philippe
- Beecham, Gary W
- Below, Jennifer E
- Campion, Dominique
- Cantwell, Laura
- Charbonnier, Camille
- Chung, Jaeyoon
- Crane, Paul K
- Cruchaga, Carlos
- Cupples, L Adrienne
- Dartigues, Jean-François
- Debette, Stéphanie
- Deleuze, Jean-François
- Fulton, Lucinda
- Gabriel, Stacey B
- Genin, Emmanuelle
- Gibbs, Richard A
- Goate, Alison
- Grenier-Boley, Benjamin
- Gupta, Namrata
- Haines, Jonathan L
- Havulinna, Aki S
- Helisalmi, Seppo
- Hiltunen, Mikko
- Howrigan, Daniel P
- Ikram, M Arfan
- Kaprio, Jaakko
- Konrad, Jan
- Kuzma, Amanda
- Lander, Eric S
- Lathrop, Mark
- Lehtimäki, Terho
- Lin, Honghuang
- Mattila, Kari
- Mayeux, Richard
- Muzny, Donna M
- Nasser, Waleed
- Neale, Benjamin
- Nho, Kwangsik
- Nicolas, Gaël
- Patel, Devanshi
- Pericak-Vance, Margaret A
- Perola, Markus
- Psaty, Bruce M
- Quenez, Olivier
- Rajabli, Farid
- Redon, Richard
- Reitz, Christiane
- Remes, Anne M
- Salomaa, Veikko
- Sarnowski, Chloe
- Schmidt, Helena
- Schmidt, Michael
- Schmidt, Reinhold
- Soininen, Hilkka
- Thornton, Timothy A
- Tosto, Giuseppe
- Tzourio, Christophe
- van der Lee, Sven J
- van Duijn, Cornelia M
- Valladares, Otto
- Vardarajan, Badri
- Wang, Li-San
- Wang, Weixin
- Wijsman, Ellen
- Wilson, Richard K
- Witten, Daniela
- Worley, Kim C
- Zhang, Xiaoling
- Bellenguez, Celine
- Lambert, Jean-Charles
- Kurki, Mitja I
- Palotie, Aarno
- Daly, Mark
- Boerwinkle, Eric
- Lunetta, Kathryn L
- Destefano, Anita L
- Dupuis, Josée
- Martin, Eden R
- Schellenberg, Gerard D
- Seshadri, Sudha
- Naj, Adam C
- Fornage, Myriam
- Farrer, Lindsay A
Producer: 20210322
In:
Molecular psychiatry vol. 25
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3011.
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3012.
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A novel mutation of PANK4 causes autosomal dominant congenital posterior cataract. [electronic resource] by
- Sun, Min
- Chen, Chunlin
- Hou, Shengping
- Li, Xue
- Wang, Huan
- Zhou, Jiaxing
- Chen, Xi
- Liu, Pei
- Kijlstra, Aize
- Lin, Sen
- Ye, Jian
Producer: 20200311
In:
Human mutation vol. 40
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3013.
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3014.
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Identification of a single-nucleotide polymorphism within [electronic resource] by
- Aaron, Michelle
- Nadeau, Geneviève
- Ouimet-Grennan, Erika
- Drouin, Simon
- Bertout, Laurence
- Beaulieu, Patrick
- St-Onge, Pascal
- Shalmiev, Albert
- Veilleux, Louis-Nicolas
- Rauch, Frank
- Petrykey, Kateryna
- Laverdière, Caroline
- Sinnett, Daniel
- Alos, Nathalie
- Krajinovic, Maja
Producer: 20200413
In:
Pharmacogenomics vol. 20
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3015.
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3016.
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3017.
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3018.
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EIF4G1 is a novel candidate gene associated with severe asthenozoospermia. [electronic resource] by
- Sha, Yanwei
- Liu, Wensheng
- Huang, Xianjing
- Li, Yang
- Ji, Zhiyong
- Mei, Libin
- Lin, Shaobin
- Kong, Shuangbo
- Lu, Jinhua
- Kong, Lingyuan
- Zhu, Xingshen
- Lu, Zhongxian
- Ding, Lu
Producer: 20200622
In:
Molecular genetics & genomic medicine vol. 7
Availability: No items available.
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3019.
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3020.
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