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Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1. [electronic resource] by
- Jensen, Lars R
- Chen, Wei
- Moser, Bettina
- Lipkowitz, Bettina
- Schroeder, Christopher
- Musante, Luciana
- Tzschach, Andreas
- Kalscheuer, Vera M
- Meloni, Ilaria
- Raynaud, Martine
- van Esch, Hilde
- Chelly, Jamel
- de Brouwer, Arjan P M
- Hackett, Anna
- van der Haar, Sigrun
- Henn, Wolfram
- Gecz, Jozef
- Riess, Olaf
- Bonin, Michael
- Reinhardt, Richard
- Ropers, Hans-Hilger
- Kuss, Andreas W
Producer: 20110913
In:
European journal of human genetics : EJHG vol. 19
Availability: No items available.
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426.
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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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Defining the pathogenicity of creatine deficiency syndrome. [electronic resource] by
- Alcaide, Patricia
- Merinero, Begoña
- Ruiz-Sala, Pedro
- Richard, Eva
- Navarrete, Rosa
- Arias, Angela
- Ribes, Antonia
- Artuch, Rafael
- Campistol, Jaume
- Ugarte, Magdalena
- Rodríguez-Pombo, Pilar
Producer: 20120327
In:
Human mutation vol. 32
Availability: No items available.
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Prognostic significance and gene expression profiles of p53 mutations in microsatellite-stable stage III colorectal adenocarcinomas. [electronic resource] by
- Katkoori, Venkat R
- Shanmugam, Chandrakumar
- Jia, Xu
- Vitta, Swaroop P
- Sthanam, Meenakshi
- Callens, Tom
- Messiaen, Ludwine
- Chen, Dongquan
- Zhang, Bin
- Bumpers, Harvey L
- Samuel, Temesgen
- Manne, Upender
Producer: 20120604
In:
PloS one vol. 7
Availability: No items available.
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