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2761.
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2762.
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2763.
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Novel Aberrations Uncovered in Barrett's Esophagus and Esophageal Adenocarcinoma Using Whole Transcriptome Sequencing. [electronic resource] by
- Maag, Jesper L V
- Fisher, Oliver M
- Levert-Mignon, Angelique
- Kaczorowski, Dominik C
- Thomas, Melissa L
- Hussey, Damian J
- Watson, David I
- Wettstein, Antony
- Bobryshev, Yuri V
- Edwards, Melanie
- Dinger, Marcel E
- Lord, Reginald V
Producer: 20180614
In:
Molecular cancer research : MCR vol. 15
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2764.
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Targeted exome sequencing reveals homozygous TREM2 R47C mutation presenting with behavioral variant frontotemporal dementia without bone involvement. [electronic resource] by
- Ng, Adeline S L
- Tan, Yi Jayne
- Yi, Zhao
- Tandiono, Moses
- Chew, Elaine
- Dominguez, Jacqueline
- Macas, Mabel
- Ng, Ebonne
- Hameed, Shahul
- Ting, Simon
- Tan, Eng King
- Foo, Jia Nee
- Kandiah, Nagaendran
Producer: 20181016
In:
Neurobiology of aging vol. 68
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2765.
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2766.
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Genomic and Functional Fidelity of Small Cell Lung Cancer Patient-Derived Xenografts. [electronic resource] by
- Drapkin, Benjamin J
- George, Julie
- Christensen, Camilla L
- Mino-Kenudson, Mari
- Dries, Ruben
- Sundaresan, Tilak
- Phat, Sarah
- Myers, David T
- Zhong, Jun
- Igo, Peter
- Hazar-Rethinam, Mehlika H
- Licausi, Joseph A
- Gomez-Caraballo, Maria
- Kem, Marina
- Jani, Kandarp N
- Azimi, Roxana
- Abedpour, Nima
- Menon, Roopika
- Lakis, Sotirios
- Heist, Rebecca S
- Büttner, Reinhard
- Haas, Stefan
- Sequist, Lecia V
- Shaw, Alice T
- Wong, Kwok-Kin
- Hata, Aaron N
- Toner, Mehmet
- Maheswaran, Shyamala
- Haber, Daniel A
- Peifer, Martin
- Dyson, Nicholas
- Thomas, Roman K
- Farago, Anna F
Producer: 20190911
In:
Cancer discovery vol. 8
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2767.
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2768.
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SMYD1 is the underlying gene for the AnWj-negative blood group phenotype. [electronic resource] by
- Yahalom, Vered
- Pillar, Nir
- Zhao, Yingying
- Modan, Shirley
- Fang, Mingyan
- Yosephi, Lydia
- Asher, Orna
- Shinar, Eilat
- Celniker, Gershon
- Resnik-Wolf, Haike
- Brantz, Yael
- Hauschner, Hagit
- Rosenberg, Nurit
- Cheng, Le
- Shomron, Noam
- Pras, Elon
Producer: 20181224
In:
European journal of haematology vol. 101
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2769.
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Atypical presentation of pediatric BRAF RASopathy with acute encephalopathy. [electronic resource] by
- Pezzani, Lidia
- Marchetti, Daniela
- Cereda, Anna
- Caffi, Lorella G
- Manara, Ornella
- Mamoli, Daniela
- Pezzoli, Laura
- Lincesso, Anna R
- Perego, Loredana
- Pellicioli, Isabella
- Bonanomi, Ezio
- Salvoni, Laura
- Iascone, Maria
Producer: 20191029
In:
American journal of medical genetics. Part A vol. 176
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2770.
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2771.
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2772.
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CCNE1 amplification is associated with poor prognosis in patients with triple negative breast cancer. [electronic resource] by
- Zhao, Zi-Ming
- Yost, Susan E
- Hutchinson, Katherine E
- Li, Sierra Min
- Yuan, Yate-Ching
- Noorbakhsh, Javad
- Liu, Zheng
- Warden, Charles
- Johnson, Radia M
- Wu, Xiwei
- Chuang, Jeffrey H
- Yuan, Yuan
Producer: 20190429
In:
BMC cancer vol. 19
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2773.
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Mutations in PIGS, Encoding a GPI Transamidase, Cause a Neurological Syndrome Ranging from Fetal Akinesia to Epileptic Encephalopathy. [electronic resource] by
- Nguyen, Thi Tuyet Mai
- Murakami, Yoshiko
- Wigby, Kristen M
- Baratang, Nissan V
- Rousseau, Justine
- St-Denis, Anik
- Rosenfeld, Jill A
- Laniewski, Stephanie C
- Jones, Julie
- Iglesias, Alejandro D
- Jones, Marilyn C
- Masser-Frye, Diane
- Scheuerle, Angela E
- Perry, Denise L
- Taft, Ryan J
- Le Deist, Françoise
- Thompson, Miles
- Kinoshita, Taroh
- Campeau, Philippe M
Producer: 20190514
In:
American journal of human genetics vol. 103
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2774.
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2775.
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Whole exome sequencing identified a novel DAG1 mutation in a patient with rare, mild and late age of onset muscular dystrophy-dystroglycanopathy. [electronic resource] by
- Dai, Yi
- Liang, Shengran
- Dong, Xue
- Zhao, Yanhuan
- Ren, Haitao
- Guan, Yuzhou
- Yin, Haifang
- Li, Chen
- Chen, Lin
- Cui, Liying
- Banerjee, Santasree
Producer: 20200618
In:
Journal of cellular and molecular medicine vol. 23
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2776.
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2777.
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2778.
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A Monoallelic Two-Hit Mechanism in PLCD1 Explains the Genetic Pathogenesis of Hereditary Trichilemmal Cyst Formation. [electronic resource] by
- Hörer, Steffen
- Marrakchi, Slaheddine
- Radner, Franz P W
- Zolles, Gerd
- Heinz, Lisa
- Eichmann, Thomas O
- Has, Cristina
- Salavei, Pavel
- Mahfoudh, Nadia
- Turki, Hamida
- Zimmer, Andreas D
- Fischer, Judith
Producer: 20200603
In:
The Journal of investigative dermatology vol. 139
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2779.
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Agenesis of the putamen and globus pallidus caused by recessive mutations in the homeobox gene GSX2. [electronic resource] by
- De Mori, Roberta
- Severino, Mariasavina
- Mancardi, Maria Margherita
- Anello, Danila
- Tardivo, Silvia
- Biagini, Tommaso
- Capra, Valeria
- Casella, Antonella
- Cereda, Cristina
- Copeland, Brett R
- Gagliardi, Stella
- Gamucci, Alessandra
- Ginevrino, Monia
- Illi, Barbara
- Lorefice, Elisa
- Musaev, Damir
- Stanley, Valentina
- Micalizzi, Alessia
- Gleeson, Joseph G
- Mazza, Tommaso
- Rossi, Andrea
- Valente, Enza Maria
Producer: 20200615
In:
Brain : a journal of neurology vol. 142
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2780.
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