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M Bertoli

Showing results (101-110 of 168) with videos related to

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Journal of Human Genetics|November 27, 2015
Broadening the phenotypic spectrum of pathogenic LARP7 variants: two cases with intellectual disability, variable growth retardation and distinct facial featuresIris H I M Hollink, Majid Alfadhel, Anwar S Al-Wakeel, et al.
European Journal of Medical Genetics|May 19, 2020
Acute liver failure in a male patient with NGLY1-congenital disorder of deglycosylationIzabel Maryalexandra Rios-Flores, Miguel Ángel Bonal-Pérez, Abril Castellanos-González, et al.
European Heart Journal|July 7, 2009
First locus for primary pulmonary vein stenosis maps to chromosome 2qIngrid van de Laar, Marja Wessels, Ingrid Frohn-Mulder, et al.
Human Genetics|December 20, 2022
CLEC16A interacts with retromer and TRIM27, and its loss impairs endosomal trafficking and neurodevelopmentDaphne J Smits, Jordy Dekker, Rachel Schot, et al.
American Journal of Medical Genetics. Part A|September 19, 2009
Mandibuloacral dysplasia type A in childhoodL Garavelli, M R D'Apice, F Rivieri, et al.
European Journal of Medical Genetics|June 11, 2022
Further clinical and genetic evidence of ASC-1 complex dysfunction in congenital neuromuscular diseaseAnett Marais, Aida M Bertoli-Avella, Christian Beetz, et al.
European Journal of Human Genetics : EJHG|August 27, 2009
Genome-wide linkage analysis in a Dutch multigenerational family with attention deficit hyperactivity disorderRinus Vegt, Aida M Bertoli-Avella, Joke H M Tulen, et al.
Journal of Intellectual Disability Research : JIDR|June 15, 2011
Needs and challenges of daily life for people with Down syndrome residing in the city of Rome, ItalyM Bertoli, G Biasini, M T Calignano, et al.
American Journal of Human Genetics|June 15, 2007
A genomewide screen for late-onset Alzheimer disease in a genetically isolated Dutch populationFan Liu, Alejandro Arias-Vásquez, Kristel Sleegers, et al.
Cancer Research|June 4, 2024
The DNA Methyltransferase Inhibitor 5-Aza-4'-thio-2'-Deoxycytidine Induces C>G Transversions and Acute Lymphoid Leukemia DevelopmentRyan M Bertoli, Yang Jo Chung, Michael J Difilippantonio, et al.
Pageof 17

Showing results (101-110 of 168) with videos related to

Sort By:
Pageof 17
Journal of Human Genetics|November 27, 2015
Broadening the phenotypic spectrum of pathogenic LARP7 variants: two cases with intellectual disability, variable growth retardation and distinct facial featuresIris H I M Hollink, Majid Alfadhel, Anwar S Al-Wakeel, et al.
European Journal of Medical Genetics|May 19, 2020
Acute liver failure in a male patient with NGLY1-congenital disorder of deglycosylationIzabel Maryalexandra Rios-Flores, Miguel Ángel Bonal-Pérez, Abril Castellanos-González, et al.
European Heart Journal|July 7, 2009
First locus for primary pulmonary vein stenosis maps to chromosome 2qIngrid van de Laar, Marja Wessels, Ingrid Frohn-Mulder, et al.
Human Genetics|December 20, 2022
CLEC16A interacts with retromer and TRIM27, and its loss impairs endosomal trafficking and neurodevelopmentDaphne J Smits, Jordy Dekker, Rachel Schot, et al.
American Journal of Medical Genetics. Part A|September 19, 2009
Mandibuloacral dysplasia type A in childhoodL Garavelli, M R D'Apice, F Rivieri, et al.
European Journal of Medical Genetics|June 11, 2022
Further clinical and genetic evidence of ASC-1 complex dysfunction in congenital neuromuscular diseaseAnett Marais, Aida M Bertoli-Avella, Christian Beetz, et al.
European Journal of Human Genetics : EJHG|August 27, 2009
Genome-wide linkage analysis in a Dutch multigenerational family with attention deficit hyperactivity disorderRinus Vegt, Aida M Bertoli-Avella, Joke H M Tulen, et al.
Journal of Intellectual Disability Research : JIDR|June 15, 2011
Needs and challenges of daily life for people with Down syndrome residing in the city of Rome, ItalyM Bertoli, G Biasini, M T Calignano, et al.
American Journal of Human Genetics|June 15, 2007
A genomewide screen for late-onset Alzheimer disease in a genetically isolated Dutch populationFan Liu, Alejandro Arias-Vásquez, Kristel Sleegers, et al.
Cancer Research|June 4, 2024
The DNA Methyltransferase Inhibitor 5-Aza-4'-thio-2'-Deoxycytidine Induces C>G Transversions and Acute Lymphoid Leukemia DevelopmentRyan M Bertoli, Yang Jo Chung, Michael J Difilippantonio, et al.
Pageof 17