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2601.
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Whole-Exome Sequencing in Age-Related Macular Degeneration Identifies Rare Variants in COL8A1, a Component of Bruch's Membrane. [electronic resource] by
- Corominas, Jordi
- Colijn, Johanna M
- Geerlings, Maartje J
- Pauper, Marc
- Bakker, Bjorn
- Amin, Najaf
- Lores Motta, Laura
- Kersten, Eveline
- Garanto, Alejandro
- Verlouw, Joost A M
- van Rooij, Jeroen G J
- Kraaij, Robert
- de Jong, Paulus T V M
- Hofman, Albert
- Vingerling, Johannes R
- Schick, Tina
- Fauser, Sascha
- de Jong, Eiko K
- van Duijn, Cornelia M
- Hoyng, Carel B
- Klaver, Caroline C W
- den Hollander, Anneke I
Producer: 20190905
In:
Ophthalmology vol. 125
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2602.
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Whole exome sequencing analysis in severe chronic obstructive pulmonary disease. [electronic resource] by
- Qiao, Dandi
- Ameli, Asher
- Prokopenko, Dmitry
- Chen, Han
- Kho, Alvin T
- Parker, Margaret M
- Morrow, Jarrett
- Hobbs, Brian D
- Liu, Yanhong
- Beaty, Terri H
- Crapo, James D
- Barnes, Kathleen C
- Nickerson, Deborah A
- Bamshad, Michael
- Hersh, Craig P
- Lomas, David A
- Agusti, Alvar
- Make, Barry J
- Calverley, Peter M A
- Donner, Claudio F
- Wouters, Emiel F
- Vestbo, Jørgen
- Paré, Peter D
- Levy, Robert D
- Rennard, Stephen I
- Tal-Singer, Ruth
- Spitz, Margaret R
- Sharma, Amitabh
- Ruczinski, Ingo
- Lange, Christoph
- Silverman, Edwin K
- Cho, Michael H
Producer: 20190422
In:
Human molecular genetics vol. 27
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2603.
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Characterization of Squamous Cell Lung Cancers from Appalachian Kentucky. [electronic resource] by
- Liu, Jinpeng
- Murali, Thilakam
- Yu, Tianxin
- Liu, Chunming
- Sivakumaran, Theru A
- Moseley, Hunter N B
- Zhulin, Igor B
- Weiss, Heidi L
- Durbin, Eric B
- Ellingson, Sally R
- Liu, Jinze
- Huang, Bin
- Hallahan, Brent J
- Horbinski, Craig M
- Hodges, Kurt
- Napier, Dana L
- Bocklage, Thèrése
- Mueller, Joseph
- Vanderford, Nathan L
- Fardo, David W
- Wang, Chi
- Arnold, Susanne M
Producer: 20200413
In:
Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology vol. 28
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2604.
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Whole-exome sequencing exploration of acquired uniparental disomies in B-cell precursor acute lymphoblastic leukemia. [electronic resource] by
- Lundin-Ström, Kristina B
- Biloglav, Andrea
- Lilljebjörn, Henrik
- Rissler, Marianne
- Fioretos, Thoas
- Hansson, Markus
- Behrendtz, Mikael
- Castor, Anders
- Olsson, Linda
- Johansson, Bertil
Producer: 20190513
In:
Leukemia vol. 32
Availability: No items available.
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2605.
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Whole-exome sequencing identifies mutations in FSIP2 as a recurrent cause of multiple morphological abnormalities of the sperm flagella. [electronic resource] by
- Martinez, Guillaume
- Kherraf, Zine-Eddine
- Zouari, Raoudha
- Fourati Ben Mustapha, Selima
- Saut, Antoine
- Pernet-Gallay, Karin
- Bertrand, Anne
- Bidart, Marie
- Hograindleur, Jean Pascal
- Amiri-Yekta, Amir
- Kharouf, Mahmoud
- Karaouzène, Thomas
- Thierry-Mieg, Nicolas
- Dacheux-Deschamps, Denis
- Satre, Véronique
- Bonhivers, Mélanie
- Touré, Aminata
- Arnoult, Christophe
- Ray, Pierre F
- Coutton, Charles
Producer: 20190530
In:
Human reproduction (Oxford, England) vol. 33
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2606.
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2607.
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2608.
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2609.
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A novel [electronic resource] by
- Iida, Aritoshi
- Takano, Kyoko
- Takeshita, Eri
- Abe-Hatano, Chihiro
- Hirabayashi, Shinichi
- Inaba, Yuji
- Kosugi, Shunichi
- Kamatani, Yoichiro
- Momozawa, Yukihide
- Kubo, Michiaki
- Nakagawa, Eiji
- Inoue, Ken
- Goto, Yu-Ichi
Producer: 20200821
In:
Cold Spring Harbor molecular case studies vol. 5
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2610.
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Integrative molecular and clinical modeling of clinical outcomes to PD1 blockade in patients with metastatic melanoma. [electronic resource] by
- Liu, David
- Schilling, Bastian
- Liu, Derek
- Sucker, Antje
- Livingstone, Elisabeth
- Jerby-Arnon, Livnat
- Zimmer, Lisa
- Gutzmer, Ralf
- Satzger, Imke
- Loquai, Carmen
- Grabbe, Stephan
- Vokes, Natalie
- Margolis, Claire A
- Conway, Jake
- He, Meng Xiao
- Elmarakeby, Haitham
- Dietlein, Felix
- Miao, Diana
- Tracy, Adam
- Gogas, Helen
- Goldinger, Simone M
- Utikal, Jochen
- Blank, Christian U
- Rauschenberg, Ricarda
- von Bubnoff, Dagmar
- Krackhardt, Angela
- Weide, Benjamin
- Haferkamp, Sebastian
- Kiecker, Felix
- Izar, Ben
- Garraway, Levi
- Regev, Aviv
- Flaherty, Keith
- Paschen, Annette
- Van Allen, Eliezer M
- Schadendorf, Dirk
Producer: 20200127
In:
Nature medicine vol. 25
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2611.
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Infantile-Onset Syndromic Cerebellar Ataxia and CACNA1G Mutations. [electronic resource] by
- Barresi, Sabina
- Dentici, Maria Lisa
- Manzoni, Francesca
- Bellacchio, Emanuele
- Agolini, Emanuele
- Pizzi, Simone
- Ciolfi, Andrea
- Tarnopolsky, Mark
- Brady, Lauren
- Garone, Giacomo
- Novelli, Antonio
- Mei, Davide
- Guerrini, Renzo
- Capuano, Alessandro
- Pantaleoni, Chiara
- Tartaglia, Marco
Producer: 20210208
In:
Pediatric neurology vol. 104
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2612.
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A case of de novo splice site variant in SLC35A2 showing developmental delays, spastic paraplegia, and delayed myelination. [electronic resource] by
- Miyamoto, Sachiko
- Nakashima, Mitsuko
- Ohashi, Tsukasa
- Hiraide, Takuya
- Kurosawa, Kenji
- Yamamoto, Toshiyuki
- Takanashi, Junichi
- Osaka, Hitoshi
- Inoue, Ken
- Miyazaki, Takehiro
- Wada, Yoshinao
- Okamoto, Nobuhiko
- Saitsu, Hirotomo
Producer: 20200629
In:
Molecular genetics & genomic medicine vol. 7
Availability: No items available.
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2613.
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Post-mortem Plasma Cell-Free DNA Sequencing: Proof-of-Concept Study for the "Liquid Autopsy". [electronic resource] by
- Takai, Erina
- Maeda, Daichi
- Li, Zhuo
- Kudo-Asabe, Yukitsugu
- Totoki, Yasushi
- Nakamura, Hiromi
- Nakamura, Akiko
- Nakamura, Rumi
- Kirikawa, Misato
- Ito, Yukinobu
- Yoshida, Makoto
- Inoue, Takamitsu
- Habuchi, Tomonori
- Ikoma, Shohei
- Katoh, Hiroto
- Kato, Mamoru
- Shibata, Tatsuhiro
- Ishikawa, Shumpei
- Yachida, Shinichi
- Goto, Akiteru
Producer: 20201112
In:
Scientific reports vol. 10
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2614.
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2615.
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Exome sequencing identifies [electronic resource] by
- García-García, Gema
- Sanchez-Navarro, Iker
- Aller, Elena
- Jaijo, Teresa
- Fuster-Garcia, Carla
- Rodríguez-Munoz, Ana
- Vallejo, Elena
- Tellería, Juan José
- Vázquez, Selma
- Beltrán, Sergi
- Derdak, Sophia
- Zurita, Olga
- Villaverde-Montero, Cristina
- Avila-Fernández, Almudena
- Corton, Marta
- Blanco-Kelly, Fiona
- Hakonarson, Hakon
- Millán, José M
- Ayuso, Carmen
Producer: 20210204
In:
Molecular vision vol. 26
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2616.
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2617.
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2618.
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SRRM4 Drives Neuroendocrine Transdifferentiation of Prostate Adenocarcinoma Under Androgen Receptor Pathway Inhibition. [electronic resource] by
- Li, Yinan
- Donmez, Nilgun
- Sahinalp, Cenk
- Xie, Ning
- Wang, Yuwei
- Xue, Hui
- Mo, Fan
- Beltran, Himisha
- Gleave, Martin
- Wang, Yuzhuo
- Collins, Colin
- Dong, Xuesen
Producer: 20180130
In:
European urology vol. 71
Availability: No items available.
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2619.
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Exome-Wide Association Study of Pancreatic Cancer Risk. [electronic resource] by
- Grant, Robert C
- Denroche, Robert E
- Borgida, Ayelet
- Virtanen, Carl
- Cook, Natalie
- Smith, Alyssa L
- Connor, Ashton A
- Wilson, Julie M
- Peterson, Gloria
- Roberts, Nicholas J
- Klein, Alison P
- Grimmond, Sean M
- Biankin, Andrew
- Cleary, Sean
- Moore, Malcolm
- Lemire, Mathieu
- Zogopoulos, George
- Stein, Lincoln
- Gallinger, Steven
Producer: 20180503
In:
Gastroenterology vol. 154
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2620.
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