Results
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4002.
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4003.
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A comprehensive clinical and genetic study in 127 patients with ID in Kinshasa, DR Congo. [electronic resource] by
- Lumaka, Aimé
- Race, Valerie
- Peeters, Hilde
- Corveleyn, Anniek
- Coban-Akdemir, Zeynep
- Jhangiani, Shalini N
- Song, Xiaofei
- Mubungu, Gerrye
- Posey, Jennifer
- Lupski, James R
- Vermeesch, Joris R
- Lukusa, Prosper
- Devriendt, Koenraad
Producer: 20190911
In:
American journal of medical genetics. Part A vol. 176
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4004.
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Recurrent Genomic Alterations in Soft Tissue Perineuriomas. [electronic resource] by
- Carter, Jodi M
- Wu, Yanhong
- Blessing, Melissa M
- Folpe, Andrew L
- Thorland, Erik C
- Spinner, Robert J
- Jentoft, Mark E
- Wang, Chen
- Baheti, Saurabh
- Niu, Zhiyv
- Mauermann, Michelle L
- Klein, Christopher J
Producer: 20190903
In:
The American journal of surgical pathology vol. 42
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4005.
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Spectrum and prevalence of genetic predisposition in medulloblastoma: a retrospective genetic study and prospective validation in a clinical trial cohort. [electronic resource] by
- Waszak, Sebastian M
- Northcott, Paul A
- Buchhalter, Ivo
- Robinson, Giles W
- Sutter, Christian
- Groebner, Susanne
- Grund, Kerstin B
- Brugières, Laurence
- Jones, David T W
- Pajtler, Kristian W
- Morrissy, A Sorana
- Kool, Marcel
- Sturm, Dominik
- Chavez, Lukas
- Ernst, Aurelie
- Brabetz, Sebastian
- Hain, Michael
- Zichner, Thomas
- Segura-Wang, Maia
- Weischenfeldt, Joachim
- Rausch, Tobias
- Mardin, Balca R
- Zhou, Xin
- Baciu, Cristina
- Lawerenz, Christian
- Chan, Jennifer A
- Varlet, Pascale
- Guerrini-Rousseau, Lea
- Fults, Daniel W
- Grajkowska, Wiesława
- Hauser, Peter
- Jabado, Nada
- Ra, Young-Shin
- Zitterbart, Karel
- Shringarpure, Suyash S
- De La Vega, Francisco M
- Bustamante, Carlos D
- Ng, Ho-Keung
- Perry, Arie
- MacDonald, Tobey J
- Hernáiz Driever, Pablo
- Bendel, Anne E
- Bowers, Daniel C
- McCowage, Geoffrey
- Chintagumpala, Murali M
- Cohn, Richard
- Hassall, Timothy
- Fleischhack, Gudrun
- Eggen, Tone
- Wesenberg, Finn
- Feychting, Maria
- Lannering, Birgitta
- Schüz, Joachim
- Johansen, Christoffer
- Andersen, Tina V
- Röösli, Martin
- Kuehni, Claudia E
- Grotzer, Michael
- Kjaerheim, Kristina
- Monoranu, Camelia M
- Archer, Tenley C
- Duke, Elizabeth
- Pomeroy, Scott L
- Shelagh, Redmond
- Frank, Stephan
- Sumerauer, David
- Scheurlen, Wolfram
- Ryzhova, Marina V
- Milde, Till
- Kratz, Christian P
- Samuel, David
- Zhang, Jinghui
- Solomon, David A
- Marra, Marco
- Eils, Roland
- Bartram, Claus R
- von Hoff, Katja
- Rutkowski, Stefan
- Ramaswamy, Vijay
- Gilbertson, Richard J
- Korshunov, Andrey
- Taylor, Michael D
- Lichter, Peter
- Malkin, David
- Gajjar, Amar
- Korbel, Jan O
- Pfister, Stefan M
Producer: 20190409
In:
The Lancet. Oncology vol. 19
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4006.
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A combined epigenome- and transcriptome-wide association study of the oral masticatory mucosa assigns CYP1B1 a central role for epithelial health in smokers. [electronic resource] by
- Richter, Gesa M
- Kruppa, Jochen
- Munz, Matthias
- Wiehe, Ricarda
- Häsler, Robert
- Franke, Andre
- Martins, Orlando
- Jockel-Schneider, Yvonne
- Bruckmann, Corinna
- Dommisch, Henrik
- Schaefer, Arne S
Producer: 20200626
In:
Clinical epigenetics vol. 11
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4007.
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None [electronic resource] by
- Kampf, Lina L
- Schneider, Ronen
- Gerstner, Lea
- Thünauer, Roland
- Chen, Mengmeng
- Helmstädter, Martin
- Amar, Ali
- Onuchic-Whitford, Ana C
- Loza Munarriz, Reyner
- Berdeli, Afig
- Müller, Dominik
- Schrezenmeier, Eva
- Budde, Klemens
- Mane, Shrikant
- Laricchia, Kristen M
- Rehm, Heidi L
- MacArthur, Daniel G
- Lifton, Richard P
- Walz, Gerd
- Römer, Winfried
- Bergmann, Carsten
- Hildebrandt, Friedhelm
- Hermle, Tobias
Producer: 20200608
In:
Journal of the American Society of Nephrology : JASN vol. 30
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4008.
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Phenogenon: Gene to phenotype associations for rare genetic diseases. [electronic resource] by
- Pontikos, Nikolas
- Murphy, Cian
- Moghul, Ismail
- Arno, Gavin
- Fujinami, Kaoru
- Fujinami, Yu
- Sumodhee, Dayyanah
- Downes, Susan
- Webster, Andrew
- Yu, Jing
Producer: 20200721
In:
PloS one vol. 15
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4009.
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New mutations in non-syndromic primary ovarian insufficiency patients identified via whole-exome sequencing. [electronic resource] by
- Patiño, Liliana Catherine
- Beau, Isabelle
- Carlosama, Carolina
- Buitrago, July Constanza
- González, Ronald
- Suárez, Carlos Fernando
- Patarroyo, Manuel Alfonso
- Delemer, Brigitte
- Young, Jacques
- Binart, Nadine
- Laissue, Paul
Producer: 20180611
In:
Human reproduction (Oxford, England) vol. 32
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4010.
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Exome sequencing identifies recurrent [electronic resource] by
- Jallades, Laurent
- Baseggio, Lucile
- Sujobert, Pierre
- Huet, Sarah
- Chabane, Kaddour
- Callet-Bauchu, Evelyne
- Verney, Aurélie
- Hayette, Sandrine
- Desvignes, Jean-Pierre
- Salgado, David
- Levy, Nicolas
- Béroud, Christophe
- Felman, Pascale
- Berger, Françoise
- Magaud, Jean-Pierre
- Genestier, Laurent
- Salles, Gilles
- Traverse-Glehen, Alexandra
Producer: 20180521
In:
Haematologica vol. 102
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4011.
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4012.
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4013.
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4014.
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New biallelic mutations in WEE2: expanding the spectrum of mutations that cause fertilization failure or poor fertilization. [electronic resource] by
- Dai, Jing
- Zheng, Wei
- Dai, Can
- Guo, Jing
- Lu, Changfu
- Gong, Fei
- Li, Yan
- Zhou, Qinwei
- Lu, Guangxiu
- Lin, Ge
Producer: 20190715
In:
Fertility and sterility vol. 111
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4015.
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4016.
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Whole-exome sequencing identified ARL2 as a novel candidate gene for MRCS (microcornea, rod-cone dystrophy, cataract, and posterior staphyloma) syndrome. [electronic resource] by
- Cai, Xue-Bi
- Wu, Kun-Chao
- Zhang, Xiao
- Lv, Ji-Neng
- Jin, Guang-Hui
- Xiang, Lue
- Chen, Jie
- Huang, Xiu-Feng
- Pan, Deng
- Lu, Bin
- Lu, Fan
- Qu, Jia
- Jin, Zi-Bing
Producer: 20200724
In:
Clinical genetics vol. 96
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4017.
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Association between DNA damage repair gene somatic mutations and immune-related gene expression in ovarian cancer. [electronic resource] by
- Tian, Wenjuan
- Shan, Boer
- Zhang, Yuzi
- Ren, Yulan
- Liang, Shanhui
- Zhao, Jing
- Zhao, Zhengyi
- Wang, Guoqiang
- Zhao, Xiaochen
- Peng, Dongxian
- Bi, Rui
- Cai, Shangli
- Bai, Yuezong
- Wang, Huaying
Producer: 20210423
In:
Cancer medicine vol. 9
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4018.
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Genomic and Phenotypic Characterization of a Broad Panel of Patient-Derived Xenografts Reflects the Diversity of Glioblastoma. [electronic resource] by
- Vaubel, Rachael A
- Tian, Shulan
- Remonde, Dioval
- Schroeder, Mark A
- Mladek, Ann C
- Kitange, Gaspar J
- Caron, Alissa
- Kollmeyer, Thomas M
- Grove, Rebecca
- Peng, Sen
- Carlson, Brett L
- Ma, Daniel J
- Sarkar, Gobinda
- Evers, Lisa
- Decker, Paul A
- Yan, Huihuang
- Dhruv, Harshil D
- Berens, Michael E
- Wang, Qianghu
- Marin, Bianca M
- Klee, Eric W
- Califano, Andrea
- LaChance, Daniel H
- Eckel-Passow, Jeanette E
- Verhaak, Roel G
- Sulman, Erik P
- Burns, Terry C
- Meyer, Fredrick B
- O'Neill, Brian P
- Tran, Nhan L
- Giannini, Caterina
- Jenkins, Robert B
- Parney, Ian F
- Sarkaria, Jann N
Producer: 20210104
In:
Clinical cancer research : an official journal of the American Association for Cancer Research vol. 26
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4019.
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Targeted Next-Generation Sequencing in Patients with Suggestive X-Linked Intellectual Disability. [electronic resource] by
- Ibarluzea, Nekane
- Hoz, Ana Belén de la
- Villate, Olatz
- Llano, Isabel
- Ocio, Intzane
- Martí, Itxaso
- Guitart, Miriam
- Gabau, Elisabeth
- Andrade, Fernando
- Gener, Blanca
- Tejada, María-Isabel
Producer: 20200623
In:
Genes vol. 11
Availability: No items available.
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4020.
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Genomic scoring to determine clinical benefit of immunotherapy by targeted sequencing. [electronic resource] by
- Kim, Hong Sook
- Cha, Hongui
- Kim, Jinho
- Park, Woong-Yang
- Choi, Yoon-La
- Sun, Jong-Mu
- Ahn, Jin Seok
- Ahn, Myung-Ju
- Park, Keunchil
- Lee, Se-Hoon
Producer: 20200609
In:
European journal of cancer (Oxford, England : 1990) vol. 120
Availability: No items available.
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