Results
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3841.
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None [electronic resource] by
- Kato, Kohji
- Miya, Fuyuki
- Hamada, Nanako
- Negishi, Yutaka
- Narumi-Kishimoto, Yoko
- Ozawa, Hiroshi
- Ito, Hidenori
- Hori, Ikumi
- Hattori, Ayako
- Okamoto, Nobuhiko
- Kato, Mitsuhiro
- Tsunoda, Tatsuhiko
- Kanemura, Yonehiro
- Kosaki, Kenjiro
- Takahashi, Yoshiyuki
- Nagata, Koh-Ichi
- Saitoh, Shinji
Producer: 20200604
In:
Journal of medical genetics vol. 56
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3842.
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Study of chromatin remodeling genes implicates SMARCA4 as a putative player in oncogenesis in neuroblastoma. [electronic resource] by
- Bellini, Angela
- Bessoltane-Bentahar, Nadia
- Bhalshankar, Jaydutt
- Clement, Nathalie
- Raynal, Virginie
- Baulande, Sylvain
- Bernard, Virginie
- Danzon, Adrien
- Chicard, Mathieu
- Colmet-Daage, Léo
- Pierron, Gaelle
- Le Roux, Laura
- Planchon, Julien M
- Combaret, Valérie
- Lapouble, Eve
- Corradini, Nadège
- Thebaud, Estelle
- Gambart, Marion
- Valteau-Couanet, Dominique
- Michon, Jean
- Louis-Brennetot, Caroline
- Janoueix-Lerosey, Isabelle
- Defachelles, Anne-Sophie
- Bourdeaut, Franck
- Delattre, Olivier
- Schleiermacher, Gudrun
Producer: 20200217
In:
International journal of cancer vol. 145
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3843.
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3844.
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Integrated genetic and epigenetic analysis of myxofibrosarcoma. [electronic resource] by
- Ogura, Koichi
- Hosoda, Fumie
- Arai, Yasuhito
- Nakamura, Hiromi
- Hama, Natsuko
- Totoki, Yasushi
- Yoshida, Akihiko
- Nagai, Momoko
- Kato, Mamoru
- Arakawa, Erika
- Mukai, Wakako
- Rokutan, Hirofumi
- Kawai, Akira
- Tanaka, Sakae
- Shibata, Tatsuhiro
Producer: 20181214
In:
Nature communications vol. 9
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3845.
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An Alzheimer's Disease-Linked Loss-of-Function CLN5 Variant Impairs Cathepsin D Maturation, Consistent with a Retromer Trafficking Defect. [electronic resource] by
- Qureshi, Yasir H
- Patel, Vivek M
- Berman, Diego E
- Kothiya, Milankumar J
- Neufeld, Jessica L
- Vardarajan, Badri
- Tang, Min
- Reyes-Dumeyer, Dolly
- Lantigua, Rafael
- Medrano, Martin
- Jiménez-Velázquez, Ivonne J
- Small, Scott A
- Reitz, Christiane
Producer: 20190624
In:
Molecular and cellular biology vol. 38
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3846.
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Evaluating parents' decisions about next-generation sequencing for their child in the NC NEXUS (North Carolina Newborn Exome Sequencing for Universal Screening) study: a randomized controlled trial protocol. [electronic resource] by
- Milko, Laura V
- Rini, Christine
- Lewis, Megan A
- Butterfield, Rita M
- Lin, Feng-Chang
- Paquin, Ryan S
- Powell, Bradford C
- Roche, Myra I
- Souris, Katherine J
- Bailey, Donald B
- Berg, Jonathan S
- Powell, Cynthia M
Producer: 20190314
In:
Trials vol. 19
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3847.
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NOTCH target gene HES5 mediates oncogenic and tumor suppressive functions in hepatocarcinogenesis. [electronic resource] by
- Luiken, Sarah
- Fraas, Angelika
- Bieg, Matthias
- Sugiyanto, Raisatun
- Goeppert, Benjamin
- Singer, Stephan
- Ploeger, Carolin
- Warsow, Gregor
- Marquardt, Jens U
- Sticht, Carsten
- De La Torre, Carolina
- Pusch, Stefan
- Mehrabi, Arianeb
- Gretz, Norbert
- Schlesner, Matthias
- Eils, Roland
- Schirmacher, Peter
- Longerich, Thomas
- Roessler, Stephanie
Producer: 20201207
In:
Oncogene vol. 39
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3848.
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Whole Exome Sequencing Identifies Candidate Genes Associated with Hereditary Predisposition to Uveal Melanoma. [electronic resource] by
- Abdel-Rahman, Mohamed H
- Sample, Klarke M
- Pilarski, Robert
- Walsh, Tomas
- Grosel, Timothy
- Kinnamon, Daniel
- Boru, Getachew
- Massengill, James B
- Schoenfield, Lynn
- Kelly, Ben
- Gordon, David
- Johansson, Peter
- DeBenedictis, Meghan J
- Singh, Arun
- Casadei, Silvia
- Davidorf, Frederick H
- White, Peter
- Stacey, Andrew W
- Scarth, James
- Fewings, Ellie
- Tischkowitz, Marc
- King, Mary-Claire
- Hayward, Nicholas K
- Cebulla, Colleen M
Producer: 20200918
In:
Ophthalmology vol. 127
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3849.
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3850.
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Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes. [electronic resource] by
- Coutelier, Marie
- Hammer, Monia B
- Stevanin, Giovanni
- Monin, Marie-Lorraine
- Davoine, Claire-Sophie
- Mochel, Fanny
- Labauge, Pierre
- Ewenczyk, Claire
- Ding, Jinhui
- Gibbs, J Raphael
- Hannequin, Didier
- Melki, Judith
- Toutain, Annick
- Laugel, Vincent
- Forlani, Sylvie
- Charles, Perrine
- Broussolle, Emmanuel
- Thobois, Stéphane
- Afenjar, Alexandra
- Anheim, Mathieu
- Calvas, Patrick
- Castelnovo, Giovanni
- de Broucker, Thomas
- Vidailhet, Marie
- Moulignier, Antoine
- Ghnassia, Robert T
- Tallaksen, Chantal
- Mignot, Cyril
- Goizet, Cyril
- Le Ber, Isabelle
- Ollagnon-Roman, Elisabeth
- Pouget, Jean
- Brice, Alexis
- Singleton, Andrew
- Durr, Alexandra
Producer: 20190924
In:
JAMA neurology vol. 75
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3851.
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Cross-species identification of genomic drivers of squamous cell carcinoma development across preneoplastic intermediates. [electronic resource] by
- Chitsazzadeh, Vida
- Coarfa, Cristian
- Drummond, Jennifer A
- Nguyen, Tri
- Joseph, Aaron
- Chilukuri, Suneel
- Charpiot, Elizabeth
- Adelmann, Charles H
- Ching, Grace
- Nguyen, Tran N
- Nicholas, Courtney
- Thomas, Valencia D
- Migden, Michael
- MacFarlane, Deborah
- Thompson, Erika
- Shen, Jianjun
- Takata, Yoko
- McNiece, Kayla
- Polansky, Maxim A
- Abbas, Hussein A
- Rajapakshe, Kimal
- Gower, Adam
- Spira, Avrum
- Covington, Kyle R
- Xiao, Weimin
- Gunaratne, Preethi
- Pickering, Curtis
- Frederick, Mitchell
- Myers, Jeffrey N
- Shen, Li
- Yao, Hui
- Su, Xiaoping
- Rapini, Ronald P
- Wheeler, David A
- Hawk, Ernest T
- Flores, Elsa R
- Tsai, Kenneth Y
Producer: 20180910
In:
Nature communications vol. 7
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3852.
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Comprehensive Genomic Profiling of Metastatic Squamous Cell Carcinoma of the Anal Canal. [electronic resource] by
- Morris, Van
- Rao, Xiayu
- Pickering, Curtis
- Foo, Wai Chin
- Rashid, Asif
- Eterovic, Karina
- Kim, Taebeom
- Chen, Ken
- Wang, Jing
- Shaw, Kenna
- Eng, Cathy
Producer: 20180614
In:
Molecular cancer research : MCR vol. 15
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3853.
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MYRF haploinsufficiency causes 46,XY and 46,XX disorders of sex development: bioinformatics consideration. [electronic resource] by
- Hamanaka, Kohei
- Takata, Atsushi
- Uchiyama, Yuri
- Miyatake, Satoko
- Miyake, Noriko
- Mitsuhashi, Satomi
- Iwama, Kazuhiro
- Fujita, Atsushi
- Imagawa, Eri
- Alkanaq, Ahmed N
- Koshimizu, Eriko
- Azuma, Yoshiki
- Nakashima, Mitsuko
- Mizuguchi, Takeshi
- Saitsu, Hirotomo
- Wada, Yuka
- Minami, Sawako
- Katoh-Fukui, Yuko
- Masunaga, Yohei
- Fukami, Maki
- Hasegawa, Tomonobu
- Ogata, Tsutomu
- Matsumoto, Naomichi
Producer: 20200312
In:
Human molecular genetics vol. 28
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3854.
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Homozygous loss-of-function mutations in MNS1 cause laterality defects and likely male infertility. [electronic resource] by
- Ta-Shma, Asaf
- Hjeij, Rim
- Perles, Zeev
- Dougherty, Gerard W
- Abu Zahira, Ibrahim
- Letteboer, Stef J F
- Antony, Dinu
- Darwish, Alaa
- Mans, Dorus A
- Spittler, Sabrina
- Edelbusch, Christine
- Cindrić, Sandra
- Nöthe-Menchen, Tabea
- Olbrich, Heike
- Stuhlmann, Friederike
- Aprea, Isabella
- Pennekamp, Petra
- Loges, Niki T
- Breuer, Oded
- Shaag, Avraham
- Rein, Azaria J J T
- Gulec, Elif Yilmaz
- Gezdirici, Alper
- Abitbul, Revital
- Elias, Nael
- Amirav, Israel
- Schmidts, Miriam
- Roepman, Ronald
- Elpeleg, Orly
- Omran, Heymut
Producer: 20190114
In:
PLoS genetics vol. 14
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3855.
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Real-time Genomic Characterization of Advanced Pancreatic Cancer to Enable Precision Medicine. [electronic resource] by
- Aguirre, Andrew J
- Nowak, Jonathan A
- Camarda, Nicholas D
- Moffitt, Richard A
- Ghazani, Arezou A
- Hazar-Rethinam, Mehlika
- Raghavan, Srivatsan
- Kim, Jaegil
- Brais, Lauren K
- Ragon, Dorisanne
- Welch, Marisa W
- Reilly, Emma
- McCabe, Devin
- Marini, Lori
- Anderka, Kristin
- Helvie, Karla
- Oliver, Nelly
- Babic, Ana
- Da Silva, Annacarolina
- Nadres, Brandon
- Van Seventer, Emily E
- Shahzade, Heather A
- St Pierre, Joseph P
- Burke, Kelly P
- Clancy, Thomas
- Cleary, James M
- Doyle, Leona A
- Jajoo, Kunal
- McCleary, Nadine J
- Meyerhardt, Jeffrey A
- Murphy, Janet E
- Ng, Kimmie
- Patel, Anuj K
- Perez, Kimberly
- Rosenthal, Michael H
- Rubinson, Douglas A
- Ryou, Marvin
- Shapiro, Geoffrey I
- Sicinska, Ewa
- Silverman, Stuart G
- Nagy, Rebecca J
- Lanman, Richard B
- Knoerzer, Deborah
- Welsch, Dean J
- Yurgelun, Matthew B
- Fuchs, Charles S
- Garraway, Levi A
- Getz, Gad
- Hornick, Jason L
- Johnson, Bruce E
- Kulke, Matthew H
- Mayer, Robert J
- Miller, Jeffrey W
- Shyn, Paul B
- Tuveson, David A
- Wagle, Nikhil
- Yeh, Jen Jen
- Hahn, William C
- Corcoran, Ryan B
- Carter, Scott L
- Wolpin, Brian M
Producer: 20191114
In:
Cancer discovery vol. 8
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3856.
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TSC22D2 identified as a candidate susceptibility gene of multi-cancer pedigree using genome-wide linkage analysis and whole-exome sequencing. [electronic resource] by
- Xiao, Lan
- Wei, Fang
- Liang, Fang
- Li, Qiao
- Deng, Hao
- Tan, Shiming
- Chen, Shuai
- Xiong, Fang
- Guo, Can
- Liao, Qianjin
- Li, Xiayu
- Zhang, Wenling
- Wu, Minghua
- Zhou, Yanhong
- Xiang, Bo
- Zhou, Ming
- Li, Xiaoling
- Xiong, Wei
- Zeng, Zhaoyang
- Li, Guiyuan
Producer: 20200512
In:
Carcinogenesis vol. 40
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3857.
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Inherited IL-18BP deficiency in human fulminant viral hepatitis. [electronic resource] by
- Belkaya, Serkan
- Michailidis, Eleftherios
- Korol, Cecilia B
- Kabbani, Mohammad
- Cobat, Aurélie
- Bastard, Paul
- Lee, Yoon Seung
- Hernandez, Nicholas
- Drutman, Scott
- de Jong, Ype P
- Vivier, Eric
- Bruneau, Julie
- Béziat, Vivien
- Boisson, Bertrand
- Lorenzo-Diaz, Lazaro
- Boucherit, Soraya
- Sebagh, Mylène
- Jacquemin, Emmanuel
- Emile, Jean-François
- Abel, Laurent
- Rice, Charles M
- Jouanguy, Emmanuelle
- Casanova, Jean-Laurent
Producer: 20200619
In:
The Journal of experimental medicine vol. 216
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3858.
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Mutations in KIRREL1, a slit diaphragm component, cause steroid-resistant nephrotic syndrome. [electronic resource] by
- Solanki, Ashish K
- Widmeier, Eugen
- Arif, Ehtesham
- Sharma, Shailza
- Daga, Ankana
- Srivastava, Pankaj
- Kwon, Sang-Ho
- Hugo, Hannah
- Nakayama, Makiko
- Mann, Nina
- Majmundar, Amar J
- Tan, Wei
- Gee, Heon Yung
- Sadowski, Caroline E
- Rinat, Choni
- Becker-Cohen, Rachel
- Bergmann, Carsten
- Rosen, Seymour
- Somers, Michael
- Shril, Shirlee
- Huber, Tobias B
- Mane, Shrikant
- Hildebrandt, Friedhelm
- Nihalani, Deepak
Producer: 20201014
In:
Kidney international vol. 96
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3859.
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Somatic mosaicism and common genetic variation contribute to the risk of very-early-onset inflammatory bowel disease. [electronic resource] by
- Serra, Eva Gonçalves
- Schwerd, Tobias
- Moutsianas, Loukas
- Cavounidis, Athena
- Fachal, Laura
- Pandey, Sumeet
- Kammermeier, Jochen
- Croft, Nicholas M
- Posovszky, Carsten
- Rodrigues, Astor
- Russell, Richard K
- Barakat, Farah
- Auth, Marcus K H
- Heuschkel, Robert
- Zilbauer, Matthias
- Fyderek, Krzysztof
- Braegger, Christian
- Travis, Simon P
- Satsangi, Jack
- Parkes, Miles
- Thapar, Nikhil
- Ferry, Helen
- Matte, Julie C
- Gilmour, Kimberly C
- Wedrychowicz, Andrzej
- Sullivan, Peter
- Moore, Carmel
- Sambrook, Jennifer
- Ouwehand, Willem
- Roberts, David
- Danesh, John
- Baeumler, Toni A
- Fulga, Tudor A
- Carrami, Eli M
- Ahmed, Ahmed
- Wilson, Rachel
- Barrett, Jeffrey C
- Elkadri, Abdul
- Griffiths, Anne M
- Snapper, Scott B
- Shah, Neil
- Muise, Aleixo M
- Wilson, David C
- Uhlig, Holm H
- Anderson, Carl A
Producer: 20200504
In:
Nature communications vol. 11
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3860.
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Pilot Study of Return of Genetic Results to Patients in Adult Nephrology. [electronic resource] by
- Nestor, Jordan G
- Marasa, Maddalena
- Milo-Rasouly, Hila
- Groopman, Emily E
- Husain, S Ali
- Mohan, Sumit
- Fernandez, Hilda
- Aggarwal, Vimla S
- Ahram, Dina F
- Vena, Natalie
- Bogyo, Kelsie
- Bomback, Andrew S
- Radhakrishnan, Jai
- Appel, Gerald B
- Ahn, Wooin
- Cohen, David J
- Canetta, Pietro A
- Dube, Geoffrey K
- Rao, Maya K
- Morris, Heather K
- Crew, Russell J
- Sanna-Cherchi, Simone
- Kiryluk, Krzysztof
- Gharavi, Ali G
Producer: 20210909
In:
Clinical journal of the American Society of Nephrology : CJASN vol. 15
Availability: No items available.
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