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Recurrent hotspot mutations in HRAS Q61 and PI3K-AKT pathway genes as drivers of breast adenomyoepitheliomas
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Recurrent hotspot mutations in HRAS Q61 and PI3K-AKT pathway genes as drivers of breast adenomyoepitheliomas

Geyer, Felipe C ; Li, Anqi ; Papanastasiou, Anastasios D ; Smith, Alison ; Selenica, Pier ; Burke, Kathleen A ; Edelweiss, Marcia ; Wen, Huei-Chi ; Piscuoglio, Salvatore ; Schultheis, Anne M ; Martelotto, Luciano G ; Pareja, Fresia ; Kumar, Rahul ; Brandes, Alissa ; Fan, Dan ; Basili, Thais ; Da Cruz Paula, Arnaud ; Lozada, John R ; Blecua, Pedro ; Muenst, Simone ; Jungbluth, Achim A ; Foschini, Maria P ; Wen, Hannah Y ; Brogi, Edi ; Palazzo, Juan ; Rubin, Brian P ; Ng, Charlotte K. Y ; Norton, Larry ; Varga, Zsuzsanna ; Ellis, Ian O ; Rakha, Emad A ; Chandarlapaty, Sarat ; Weigelt, Britta ; Reis-Filho, Jorge S

Nature communications, 2018-05-08, Vol.9 (1), p.1816-1816 [Rivista Peer Reviewed]

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Effect of inbreeding on intellectual disability revisited by trio sequencing
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Effect of inbreeding on intellectual disability revisited by trio sequencing

Kahrizi, Kimia ; Hu, Hao ; Hosseini, Masoumeh ; Kalscheuer, Vera M ; Fattahi, Zohreh ; Beheshtian, Maryam ; Suckow, Vanessa ; Mohseni, Marzieh ; Lipkowitz, Bettina ; Mehvari, Sepideh ; Mehrjoo, Zohreh ; Akhtarkhavari, Tara ; Ghaderi, Zhila ; Rahimi, Maryam ; Arzhangi, Sanaz ; Jamali, Payman ; Falahat Chian, Milad ; Nikuei, Pooneh ; Sabbagh Kermani, Farahnaz ; Sadeghinia, Farnaz ; Jazayeri, Roshanak ; Tonekaboni, S. Hassan ; Khoshaeen, Atefeh ; Habibi, Haleh ; Pourfatemi, Fatemeh ; Mojahedi, Faezeh ; Khodaie‐Ardakani, Mohammad‐Reza ; Najafipour, Reza ; Wienker, Thomas F ; Najmabadi, Hossein ; Ropers, Hans‐Hilger

Clinical genetics, 2018-11-19, Vol.95 (1), p.151-159 [Rivista Peer Reviewed]

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Whole-exome sequencing of primary plasma cell leukemia discloses heterogeneous mutational patterns
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Whole-exome sequencing of primary plasma cell leukemia discloses heterogeneous mutational patterns

Cifola, Ingrid ; Lionetti, Marta ; Pinatel, Eva ; Todoerti, Katia ; Mangano, Eleonora ; Pietrelli, Alessandro ; Fabris, Sonia ; Mosca, Laura ; Simeon, Vittorio ; Petrucci, Maria Teresa ; Morabito, Fortunato ; Offidani, Massimo ; Di Raimondo, Francesco ; Falcone, Antonietta ; Caravita, Tommaso ; Battaglia, Cristina ; De Bellis, Gianluca ; Palumbo, Antonio ; Musto, Pellegrino ; Neri, Antonino

Oncotarget, 2015-05-25, Vol.6 (19), p.17543-17558 [Rivista Peer Reviewed]

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Whole-exome sequencing and targeted gene sequencing provide insights into the role of PALB2 as a male breast cancer susceptibility gene
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Whole-exome sequencing and targeted gene sequencing provide insights into the role of PALB2 as a male breast cancer susceptibility gene

Silvestri, Valentina ; Zelli, Veronica ; Valentini, Virginia ; Rizzolo, Piera ; Navazio, Anna Sara ; Coppa, Anna ; Agata, Simona ; Oliani, Cristina ; Barana, Daniela ; Castrignanò, Tiziana ; Viel, Alessandra ; Russo, Antonio ; Tibiletti, Maria Grazia ; Zanna, Ines ; Masala, Giovanna ; Cortesi, Laura ; Manoukian, Siranoush ; Azzollini, Jacopo ; Peissel, Bernard ; Bonanni, Bernardo ; Peterlongo, Paolo ; Radice, Paolo ; Palli, Domenico ; Giannini, Giuseppe ; Chillemi, Giovanni ; Montagna, Marco ; Ottini, Laura

Cancer, 2017-01-15, Vol.123 (2), p.210-218 [Rivista Peer Reviewed]

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KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis
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KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis

Gueneau, Lucie ; Fish, Richard J ; Shamseldin, Hanan E ; Voisin, Norine ; Tran Mau-Them, Frédéric ; Preiksaitiene, Egle ; Monroe, Glen R ; Lai, Angeline ; Putoux, Audrey ; Allias, Fabienne ; Ambusaidi, Qamariya ; Ambrozaityte, Laima ; Cimbalistienė, Loreta ; Delafontaine, Julien ; Guex, Nicolas ; Hashem, Mais ; Kurdi, Wesam ; Jamuar, Saumya Shekhar ; Ying, Lim J ; Bonnard, Carine ; Pippucci, Tommaso ; Pradervand, Sylvain ; Roechert, Bernd ; van Hasselt, Peter M ; Wiederkehr, Michaël ; Wright, Caroline F ; Xenarios, Ioannis ; van Haaften, Gijs ; Shaw-Smith, Charles ; Schindewolf, Erica M ; Neerman-Arbez, Marguerite ; Sanlaville, Damien ; Lesca, Gaëtan ; Guibaud, Laurent ; Reversade, Bruno ; Chelly, Jamel ; Kučinskas, Vaidutis ; Alkuraya, Fowzan S ; Reymond, Alexandre

American journal of human genetics, 2018-01, Vol.102 (1), p.116-132 [Rivista Peer Reviewed]

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eDiVA—Classification and prioritization of pathogenic variants for clinical diagnostics
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eDiVA—Classification and prioritization of pathogenic variants for clinical diagnostics

Bosio, Mattia ; Drechsel, Oliver ; Rahman, Rubayte ; Muyas, Francesc ; Rabionet, Raquel ; Bezdan, Daniela ; Domenech Salgado, Laura ; Hor, Hyun‐Gyu ; Schott, Jean‐Jacques ; Munell, Francina ; Colobran, Roger ; Macaya, Alfons ; Estivill, Xavier ; Ossowski, Stephan

Human mutation, 2019-05-21, Vol.40 (7), p.865-878 [Rivista Peer Reviewed]

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7
Mutations in TYROBP are not a common cause of dementia in a Turkish cohort
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Mutations in TYROBP are not a common cause of dementia in a Turkish cohort

Darwent, Lee ; Carmona, Susana ; Lohmann, Ebba ; Guven, Gamze ; Kun-Rodrigues, Celia ; Bilgic, Basar ; Hanagasi, Hasmet ; Gurvit, Hakan ; Erginel-Unaltuna, Nihan ; Pak, Meltem ; Hardy, John ; Singleton, Andrew ; Brás, Jose ; Guerreiro, Rita

Neurobiology of aging, 2017-10, Vol.58, p.240.e1-240.e3 [Rivista Peer Reviewed]

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Whole-exome sequencing of the BDR cohort: evidence to support the role of the PILRA gene in Alzheimer's disease
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Whole-exome sequencing of the BDR cohort: evidence to support the role of the PILRA gene in Alzheimer's disease

Patel, T ; Brookes, K. J ; Turton, J ; Chaudhury, S ; Guetta-Baranes, T ; Guerreiro, R ; Bras, J ; Hernandez, D ; Singleton, A ; Francis, P. T ; Hardy, J ; Morgan, K

Neuropathology and applied neurobiology, 2018-08, Vol.44 (5), p.506-521 [Rivista Peer Reviewed]

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9
INDEX-db: The Indian Exome Reference Database (Phase I)
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INDEX-db: The Indian Exome Reference Database (Phase I)

Ahmed P, Husayn ; V, Vidhya ; More, Ravi Prabhakar ; Viswanath, Biju ; Jain, Sanjeev ; Rao, Mahendra S ; Mukherjee, Odity

Journal of computational biology, 2019-03-01, Vol.26 (3), p.225-234 [Rivista Peer Reviewed]

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10
The Sac1 Domain of SYNJ1 Identified Mutated in a Family with Early-Onset Progressive Parkinsonism with Generalized Seizures
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The Sac1 Domain of SYNJ1 Identified Mutated in a Family with Early-Onset Progressive Parkinsonism with Generalized Seizures

Krebs, Catharine E ; Karkheiran, Siamak ; Powell, James C ; Cao, Mian ; Makarov, Vladimir ; Darvish, Hossein ; Di Paolo, Gilbert ; Walker, Ruth H ; Shahidi, Gholam Ali ; Buxbaum, Joseph D ; De Camilli, Pietro ; Yue, Zhenyu ; Paisán-Ruiz, Coro

Human mutation, 2013-09, Vol.34 (9), p.1200-1207 [Rivista Peer Reviewed]

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