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De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder

Küry, Sébastien; Besnard, Thomas; Ebstein, Frédéric; Khan, Tahir N.; Gambin, Tomasz; Douglas, Jessica; Bacino, Carlos A.; Sanders, Stephan J.; Lehmann, Andrea; Latypova, Xénia; Khan, Kamal; Pacault, Mathilde; Sacharow, Stephanie; Glaser, Kimberly; Bieth, Eric; Perrin-Sabourin, Laurence; Jacquemont, Marie Line; Cho, Megan T; Roeder, Elizabeth; Denommé Pichon, Anne Sophie; Monaghan, Kristin G.; Yuan, Bo; Xia, Fan; Simon, Sylvain; Bonneau, Dominique; Parent, Philippe; Gilbert Dussardier, Brigitte; Odent, Sylvie; Toutain, Annick; Pasquier, Laurent; Barbouth, Deborah Sara; Shaw, Chad A.; Patel, Ankita; Smith, Janice L.; Bi, Weimin; Schmitt, Sébastien; Deb, Wallid; Nizon, Mathilde; Mercier, Sandra; Vincent, Marie; Rooryck, Caroline; Malan, Valérie; Briceño Balcázar, Ignacio; Gómez Gutiérrez, Alberto; Nugent, Kimberly M.; Gibson, James B.; Cogné, Benjamin; Lupski, James R.; Stessman, Holly A.F.; Eichler, Evan E.; Retterer, Kyle; Yang, Yaping; Redon, Richard; Katsanis, Nicholas; Rosenfeld, Jill A.; Kloetzel, Peter Michael; Golzio, Christelle; Bézieau, Stéphane; Stankiewicz, Paweł; Isidor, Bertrand (The American Journal of Human Genetics, 2017-02-02)

Methodology for Anti-Gene Anti-IGF-I Therapy of Malignant Tumours

Trojan, Jerzy; Pan, Yuexin X.; Wei, Ming X.; Ly, Adama; Shevelev, Alexander; Bierwagen, Maciej; Ardourel, Marie Yvonne; Trojan, Ladislas A.; Alvarez, Alvaro; Andres, Christian; Noguera, Maria C.; Briceño Balcázar, Ignacio; Aristizabal, Beatriz H.; Kasprzak, Heliodor; Duc, Huynh T.; Anthony, Donald D. (Chemotherapy Research and Practice, 2012)

Prevalence and Penetrance of BRCA1 and BRCA2 Germline Mutations in Colombian Breast Cancer Patients

Torres López, Diana María; Lorenzo Bermejo, Justo; Rashid, M. U.; Briceño Balcázar, Ignacio; Gil Laverde, Jacky Fabián Armando; Beltran, A.; Ariza, V.; Hamann, Ute (Scientific Reports, 2017-07-05)

Nonrecurrent PMP22-RAI1 contiguous gene deletions arise from replication-based mechanisms and result in Smith–Magenis syndrome with evident peripheral neuropathy

Yuan, Bo; Neira, Juanita; Gu, Shen; Harel, Tamar; Liu, Pengfei; Briceño Balcázar, Ignacio; Elsea, Sarah H.; Gómez Gutiérrez, Alberto; Potocki, Lorraine; Lupski, James R. (Human Genetics, 2017-10-01)

The potential for next-generation sequencing to characterise the genetic variation underlying non-syndromic cleft lip and palate phenotypes

Collins, Andrew R.; Arias, L.; Pengelly, R.; Martínez Lozano, Julio César; Briceño Balcázar, Ignacio (OA Genetics, 2013-09)

C677T (RS1801133 ) MTHFR gene polymorphism frequency in a colombian population

Romero Sánchez, Consuelo; Gómez Gutiérrez, Alberto; Elena Gómez, Piedad; Casas Gomez, Maria Consuelo; Briceño Balcázar, Ignacio (Colombia Médica, 2015)

Highly Sensitive Detection and Genotyping of HPV by PCR Multiplex and Luminex Technology in a Cohort of Colombian Women with Abnormal Cytology

García Robayo, Dabeiba Adriana; Cid-Arregui, Ángel; Schmitt, Markus; Castillo Zamora, Marcos Fidel; Briceño Balcázar, Ignacio; Aristizábal Gutiérrez, Fabio Ancízar (The Open Virology Journal, 2011)

Genotipificación del Virus del Papiloma Humano(VPH) en muestras de cepillados cervicales de pacientes de diferentes hospitales de Bogotá y evaluación de la concordancia de dos métodos basados en PCR

García Robayo, Dabeiba Adriana; Schmitt, Markus; Cid-Arregui, Ángel; Castillo Zamora, Marcos Fidel; Briceño Balcázar, Ignacio; Aristizábal Gutiérrez, Fabio Ancízar (Revista Colombiana de Obstetricia y Ginecología, 2010-12-12)

Biobancos. Una estrategia exigente y esencial para la conservación de muestras biológicas

Martínez Lozano, Julio César; Briceño Balcázar, Ignacio; HOYOS LÓPEZ, ALEJANDRA; Gómez Gutiérrez, Alberto (Acta Médica Colombiana, 2012)

Mutational spectrum in breast cancer associated BRCA1 and BRCA2 genes in Colombia

Briceño Balcázar, Ignacio; Gómez Gutiérrez, Alberto; Díaz Dussán, Natalia Andrea; Noguera Santamaría, María Claudia; Díaz Rincón, Diego; Casas Gómez, María Consuelo (Colombia Médica, 2017-06-02)

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De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder

Methodology for Anti-Gene Anti-IGF-I Therapy of Malignant Tumours

Prevalence and Penetrance of BRCA1 and BRCA2 Germline Mutations in Colombian Breast Cancer Patients

Nonrecurrent PMP22-RAI1 contiguous gene deletions arise from replication-based mechanisms and result in Smith–Magenis syndrome with evident peripheral neuropathy

The potential for next-generation sequencing to characterise the genetic variation underlying non-syndromic cleft lip and palate phenotypes

C677T (RS1801133 ) MTHFR gene polymorphism frequency in a colombian population

Highly Sensitive Detection and Genotyping of HPV by PCR Multiplex and Luminex Technology in a Cohort of Colombian Women with Abnormal Cytology

Genotipificación del Virus del Papiloma Humano(VPH) en muestras de cepillados cervicales de pacientes de diferentes hospitales de Bogotá y evaluación de la concordancia de dos métodos basados en PCR

Biobancos. Una estrategia exigente y esencial para la conservación de muestras biológicas

Mutational spectrum in breast cancer associated BRCA1 and BRCA2 genes in Colombia

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De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder

Methodology for Anti-Gene Anti-IGF-I Therapy of Malignant Tumours

Prevalence and Penetrance of BRCA1 and BRCA2 Germline Mutations in Colombian Breast Cancer Patients

Nonrecurrent PMP22-RAI1 contiguous gene deletions arise from replication-based mechanisms and result in Smith–Magenis syndrome with evident peripheral neuropathy

The potential for next-generation sequencing to characterise the genetic variation underlying non-syndromic cleft lip and palate phenotypes

C677T (RS1801133 ) MTHFR gene polymorphism frequency in a colombian population

Highly Sensitive Detection and Genotyping of HPV by PCR Multiplex and Luminex Technology in a Cohort of Colombian Women with Abnormal Cytology

Genotipificación del Virus del Papiloma Humano(VPH) en muestras de cepillados cervicales de pacientes de diferentes hospitales de Bogotá y evaluación de la concordancia de dos métodos basados en PCR

Biobancos. Una estrategia exigente y esencial para la conservación de muestras biológicas

Mutational spectrum in breast cancer associated BRCA1 and BRCA2 genes in Colombia