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Aida M Bertoli-Avella

Showing results (1-10 of 85) with videos related to

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Human Genetics|March 5, 2004
Chasing genes in Alzheimer's and Parkinson's diseaseAida M Bertoli-Avella, Ben A Oostra, Peter Heutink
Molecular Genetics & Genomic Medicine|January 25, 2017
A comprehensive global genotype-phenotype database for rare diseasesDaniel Trujillano, Gabriela-Elena Oprea, Yvonne Schmitz, et al.
Clinical Genetics|October 18, 2023
Adding to the evidence of gene-disease association of RAP1B and syndromic thrombocytopeniaLuba M Pardo, Ruxandra Aanicai, Emir Zonic, et al.
European Journal of Human Genetics : EJHG|December 12, 2022
Pathogenic REST variant causing Jones syndrome and a review of the literatureElisa Rahikkala, Johanna Julku, Sari Koskinen, et al.
Clinical Genetics|November 1, 2020
An X-linked syndrome with severe neurodevelopmental delay, hydrocephalus, and early lethality caused by a missense variation in the OTUD5 geneKornelia Tripolszki, Erina Sasaki, Ronja Hotakainen, et al.
European Journal of Emergency Medicine : Official Journal of the European Society for Emergency Medicine|February 4, 2015
Systematic review of frequent users of emergency departments in non-US hospitals: state of the artSofie van Tiel, Pleunie P M Rood, Aida M Bertoli-Avella, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|November 26, 2003
Suggestive linkage to chromosome 19 in a large Cuban family with late-onset Parkinson's diseaseAida M Bertoli-Avella, Jose L Giroud-Benitez, Vincenzo Bonifati, et al.
Journal of Medical Genetics|May 24, 2025
<i>RNU4-2</i> monoallelic variants as a leading cause of syndromic neurodevelopmental disorder, including in patients with parental consanguinityAida M Bertoli-Avella, Christian A Ganoza, Mariana Ferreira, et al.
European Journal of Emergency Medicine : Official Journal of the European Society for Emergency Medicine|August 20, 2015
Frequent users of the emergency department services in the largest academic hospital in the Netherlands: a 5-year reportAida M Bertoli-Avella, Juanita A Haagsma, Sofie Van Tiel, et al.
Nederlands Tijdschrift Voor Geneeskunde|May 23, 2013
[Patients with aneurysms and osteoarthritis: Marfan syndrome ruled out, so what is it?]Denise van der Linde, Ingrid M B H van de Laar, Adriaan Moelker, et al.
Pageof 9

Showing results (1-10 of 85) with videos related to

Sort By:
Pageof 9
Human Genetics|March 5, 2004
Chasing genes in Alzheimer's and Parkinson's diseaseAida M Bertoli-Avella, Ben A Oostra, Peter Heutink
Molecular Genetics & Genomic Medicine|January 25, 2017
A comprehensive global genotype-phenotype database for rare diseasesDaniel Trujillano, Gabriela-Elena Oprea, Yvonne Schmitz, et al.
Clinical Genetics|October 18, 2023
Adding to the evidence of gene-disease association of RAP1B and syndromic thrombocytopeniaLuba M Pardo, Ruxandra Aanicai, Emir Zonic, et al.
European Journal of Human Genetics : EJHG|December 12, 2022
Pathogenic REST variant causing Jones syndrome and a review of the literatureElisa Rahikkala, Johanna Julku, Sari Koskinen, et al.
Clinical Genetics|November 1, 2020
An X-linked syndrome with severe neurodevelopmental delay, hydrocephalus, and early lethality caused by a missense variation in the OTUD5 geneKornelia Tripolszki, Erina Sasaki, Ronja Hotakainen, et al.
European Journal of Emergency Medicine : Official Journal of the European Society for Emergency Medicine|February 4, 2015
Systematic review of frequent users of emergency departments in non-US hospitals: state of the artSofie van Tiel, Pleunie P M Rood, Aida M Bertoli-Avella, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|November 26, 2003
Suggestive linkage to chromosome 19 in a large Cuban family with late-onset Parkinson's diseaseAida M Bertoli-Avella, Jose L Giroud-Benitez, Vincenzo Bonifati, et al.
Journal of Medical Genetics|May 24, 2025
<i>RNU4-2</i> monoallelic variants as a leading cause of syndromic neurodevelopmental disorder, including in patients with parental consanguinityAida M Bertoli-Avella, Christian A Ganoza, Mariana Ferreira, et al.
European Journal of Emergency Medicine : Official Journal of the European Society for Emergency Medicine|August 20, 2015
Frequent users of the emergency department services in the largest academic hospital in the Netherlands: a 5-year reportAida M Bertoli-Avella, Juanita A Haagsma, Sofie Van Tiel, et al.
Nederlands Tijdschrift Voor Geneeskunde|May 23, 2013
[Patients with aneurysms and osteoarthritis: Marfan syndrome ruled out, so what is it?]Denise van der Linde, Ingrid M B H van de Laar, Adriaan Moelker, et al.
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