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1
A fascination with chromosome rescue in uniparental disomy: Mendelian recessive outlaws and imprinting copyrights infringements
A fascination with chromosome rescue in uniparental disomy: Mendelian recessive outlaws and imprinting copyrights infringements
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A fascination with chromosome rescue in uniparental disomy: Mendelian recessive outlaws and imprinting copyrights infringements

ENGEL, Eric

European journal of human genetics : EJHG, 2006-11, Vol.14 (11), p.1158-1169 [Revista revisada por pares]

Avenel, NJ: Nature Publishing

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2
The exstrophy-epispadias complex
The exstrophy-epispadias complex
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The exstrophy-epispadias complex

Ebert, Anne-Karoline ; Reutter, Heiko ; Ludwig, Michael ; Rösch, Wolfgang H

Orphanet journal of rare diseases, 2009-10, Vol.4 (1), p.23-23, Article 23 [Revista revisada por pares]

England: BioMed Central Ltd

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3
The importance of integrating basic and clinical research toward the development of new therapies for Huntington disease
The importance of integrating basic and clinical research toward the development of new therapies for Huntington disease
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The importance of integrating basic and clinical research toward the development of new therapies for Huntington disease

Munoz-Sanjuan, Ignacio ; Bates, Gillian P

The Journal of clinical investigation, 2011-02, Vol.121 (2), p.476-483 [Revista revisada por pares]

United States: American Society for Clinical Investigation

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4
Alternative splicing factor or splicing factor‐2 plays a key role in intron retention of the endoglin gene during endothelial senescence
Alternative splicing factor or splicing factor‐2 plays a key role in intron retention of the endoglin gene during endothelial senescence
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Alternative splicing factor or splicing factor‐2 plays a key role in intron retention of the endoglin gene during endothelial senescence

Blanco, Francisco J. ; Bernabeu, Carmelo

Aging cell, 2011-10, Vol.10 (5), p.896-907 [Revista revisada por pares]

Oxford, UK: Blackwell Publishing Ltd

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5
Use of the MLPA assay in the molecular diagnosis of gene copy number alterations in human genetic diseases
Use of the MLPA assay in the molecular diagnosis of gene copy number alterations in human genetic diseases
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Use of the MLPA assay in the molecular diagnosis of gene copy number alterations in human genetic diseases

Stuppia, Liborio ; Antonucci, Ivana ; Palka, Giandomenico ; Gatta, Valentina

International journal of molecular sciences, 2012-03, Vol.13 (3), p.3245-3276 [Revista revisada por pares]

Switzerland: MDPI AG

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6
Selected Abstracts of IANCON 2015 (Poster)
Selected Abstracts of IANCON 2015 (Poster)
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Selected Abstracts of IANCON 2015 (Poster)

Annals of the Indian Academy of Neurology, 2015-09, Vol.18 (6), p.41-88 [Revista revisada por pares]

Medknow Publications and Media Pvt. Ltd

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7
Neurodegeneration and Epilepsy in a Zebrafish Model of CLN3 Disease (Batten Disease)
Neurodegeneration and Epilepsy in a Zebrafish Model of CLN3 Disease (Batten Disease)
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Neurodegeneration and Epilepsy in a Zebrafish Model of CLN3 Disease (Batten Disease)

Wager, Kim ; Zdebik, Anselm A ; Fu, Sonia ; Cooper, Jonathan D ; Harvey, Robert J ; Russell, Claire Del Bene, Filippo

PloS one, 2016-06, Vol.11 (6), p.e0157365-e0157365 [Revista revisada por pares]

United States: Public Library of Science

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8
Targeting Splicing in Prostate Cancer
Targeting Splicing in Prostate Cancer
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Targeting Splicing in Prostate Cancer

Antonopoulou, Effrosyni ; Ladomery, Michael

International journal of molecular sciences, 2018-04, Vol.19 (5), p.1287 [Revista revisada por pares]

Switzerland: MDPI AG

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9
Sex: A Significant Risk Factor for Neurodevelopmental and Neurodegenerative Disorders
Sex: A Significant Risk Factor for Neurodevelopmental and Neurodegenerative Disorders
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Sex: A Significant Risk Factor for Neurodevelopmental and Neurodegenerative Disorders

Pinares-Garcia, Paulo ; Stratikopoulos, Marielle ; Zagato, Alice ; Loke, Hannah ; Lee, Joohyung

Brain sciences, 2018-08, Vol.8 (8), p.154 [Revista revisada por pares]

Switzerland: MDPI AG

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10
RNA 2'-O-Methylation (Nm) Modification in Human Diseases
RNA 2'-O-Methylation (Nm) Modification in Human Diseases
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RNA 2'-O-Methylation (Nm) Modification in Human Diseases

Dimitrova, Dilyana G ; Teysset, Laure ; Carré, Clément

Genes, 2019-02, Vol.10 (2), p.117 [Revista revisada por pares]

Switzerland: MDPI AG

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