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M Bertoli

Showing results (131-140 of 168) with videos related to

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Clinical Genetics|January 15, 2024
The clinical and genetic landscape of developmental and epileptic encephalopathies in Egyptian childrenNour Elkhateeb, Mahmoud Y Issa, Hasnaa M Elbendary, et al.
Clinical Genetics|July 30, 2022
HIDEA syndrome is caused by biallelic, pathogenic, rare or founder P4HTM variants impacting the active site or the overall stability of the P4H-TM proteinMinna Kraatari-Tiri, Leila Soikkonen, Matti Myllykoski, et al.
Frontiers in Genetics|July 11, 2022
Genomic, Proteomic, and Phenotypic Spectrum of Novel O-Sialoglycoprotein Endopeptidase Variant in Four Affected Individuals With Galloway-Mowat SyndromeMalak Ali Alghamdi, Hicham Benabdelkamel, Afshan Masood, et al.
Clinical Rheumatology|July 23, 2015
Is entheses ultrasound reliable? A reading Latin American exerciseL Ventura-Ríos, V Navarro-Compan, M Aliste, et al.
Human Genetics|October 17, 2007
A new syndrome with noncompaction cardiomyopathy, bradycardia, pulmonary stenosis, atrial septal defect and heterotaxy with suggestive linkage to chromosome 6pMarja W Wessels, Bianca M De Graaf, Titia E Cohen-Overbeek, et al.
Human Genetics|May 17, 2023
De novo MCM6 variants in neurodevelopmental disorders: a recognizable phenotype related to zinc binding residuesDaphne J Smits, Rachel Schot, Cristiana A Popescu, et al.
The Journal of Clinical Investigation|August 25, 2022
Immune dysregulation caused by homozygous mutations in CBLBErin Janssen, Zachary Peters, Mohammed F Alosaimi, et al.
American Journal of Human Genetics|June 30, 2009
Mutation in the AP4M1 gene provides a model for neuroaxonal injury in cerebral palsyAnnemieke J M H Verkerk, Rachel Schot, Belinda Dumee, et al.
Clinical Genetics|October 28, 2021
Biallelic ZNFX1 variants are associated with a spectrum of immuno-hematological abnormalitiesSalem Alawbathani, Ana Westenberger, Natalia Ordonez-Herrera, et al.
European Journal of Human Genetics : EJHG|November 17, 2016
Clinical exome sequencing: results from 2819 samples reflecting 1000 familiesDaniel Trujillano, Aida M Bertoli-Avella, Krishna Kumar Kandaswamy, et al.
Pageof 17

Showing results (131-140 of 168) with videos related to

Sort By:
Pageof 17
Clinical Genetics|January 15, 2024
The clinical and genetic landscape of developmental and epileptic encephalopathies in Egyptian childrenNour Elkhateeb, Mahmoud Y Issa, Hasnaa M Elbendary, et al.
Clinical Genetics|July 30, 2022
HIDEA syndrome is caused by biallelic, pathogenic, rare or founder P4HTM variants impacting the active site or the overall stability of the P4H-TM proteinMinna Kraatari-Tiri, Leila Soikkonen, Matti Myllykoski, et al.
Frontiers in Genetics|July 11, 2022
Genomic, Proteomic, and Phenotypic Spectrum of Novel O-Sialoglycoprotein Endopeptidase Variant in Four Affected Individuals With Galloway-Mowat SyndromeMalak Ali Alghamdi, Hicham Benabdelkamel, Afshan Masood, et al.
Clinical Rheumatology|July 23, 2015
Is entheses ultrasound reliable? A reading Latin American exerciseL Ventura-Ríos, V Navarro-Compan, M Aliste, et al.
Human Genetics|October 17, 2007
A new syndrome with noncompaction cardiomyopathy, bradycardia, pulmonary stenosis, atrial septal defect and heterotaxy with suggestive linkage to chromosome 6pMarja W Wessels, Bianca M De Graaf, Titia E Cohen-Overbeek, et al.
Human Genetics|May 17, 2023
De novo MCM6 variants in neurodevelopmental disorders: a recognizable phenotype related to zinc binding residuesDaphne J Smits, Rachel Schot, Cristiana A Popescu, et al.
The Journal of Clinical Investigation|August 25, 2022
Immune dysregulation caused by homozygous mutations in CBLBErin Janssen, Zachary Peters, Mohammed F Alosaimi, et al.
American Journal of Human Genetics|June 30, 2009
Mutation in the AP4M1 gene provides a model for neuroaxonal injury in cerebral palsyAnnemieke J M H Verkerk, Rachel Schot, Belinda Dumee, et al.
Clinical Genetics|October 28, 2021
Biallelic ZNFX1 variants are associated with a spectrum of immuno-hematological abnormalitiesSalem Alawbathani, Ana Westenberger, Natalia Ordonez-Herrera, et al.
European Journal of Human Genetics : EJHG|November 17, 2016
Clinical exome sequencing: results from 2819 samples reflecting 1000 familiesDaniel Trujillano, Aida M Bertoli-Avella, Krishna Kumar Kandaswamy, et al.
Pageof 17