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Orsetta Zuffardi

Showing results (211-220 of 222) with videos related to

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European Journal of Human Genetics : EJHG|October 8, 2009
The 2q23.1 microdeletion syndrome: clinical and behavioural phenotypeBregje W M van Bon, David A Koolen, Louise Brueton, et al.
Nature Genetics|February 19, 2008
A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizuresAndrew J Sharp, Heather C Mefford, Kelly Li, et al.
European Journal of Human Genetics : EJHG|January 21, 2011
The phenotype of recurrent 10q22q23 deletions and duplicationsBregje W M van Bon, Jorune Balciuniene, Gary Fruhman, et al.
American Journal of Medical Genetics. Part A|May 3, 2025
Further Delineation of the AUTS2 HX Repeat Domain-Related PhenotypeEsin Nur Erdogan, Chi Vicky Cheng, Stefano G Caraffi, et al.
Seizure|April 8, 2021
Electroclinical features of MEF2C haploinsufficiency-related epilepsy: A multicenter European studyFederico Raviglione, Sofia Douzgou, Marcello Scala, et al.
American Journal of Human Genetics|March 30, 2023
Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhageMauro Lecca, Davut Pehlivan, Damià Heine Suñer, et al.
Plos Genetics|July 23, 2011
Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndromeMaria Clara Bonaglia, Roberto Giorda, Silvana Beri, et al.
Nature Genetics|February 28, 2012
Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndromeJeroen K J Van Houdt, Beata Anna Nowakowska, Sérgio B Sousa, et al.
European Journal of Human Genetics : EJHG|November 27, 2014
Further delineation of the KAT6B molecular and phenotypic spectrumTamsin Gannon, Rahat Perveen, Hélene Schlecht, et al.
Journal of Medical Genetics|August 16, 2023
Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literatureFrancesca Peluso, Stefano G Caraffi, Gianluca Contrò, et al.
Pageof 23

Showing results (211-220 of 222) with videos related to

Sort By:
Pageof 23
European Journal of Human Genetics : EJHG|October 8, 2009
The 2q23.1 microdeletion syndrome: clinical and behavioural phenotypeBregje W M van Bon, David A Koolen, Louise Brueton, et al.
Nature Genetics|February 19, 2008
A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizuresAndrew J Sharp, Heather C Mefford, Kelly Li, et al.
European Journal of Human Genetics : EJHG|January 21, 2011
The phenotype of recurrent 10q22q23 deletions and duplicationsBregje W M van Bon, Jorune Balciuniene, Gary Fruhman, et al.
American Journal of Medical Genetics. Part A|May 3, 2025
Further Delineation of the AUTS2 HX Repeat Domain-Related PhenotypeEsin Nur Erdogan, Chi Vicky Cheng, Stefano G Caraffi, et al.
Seizure|April 8, 2021
Electroclinical features of MEF2C haploinsufficiency-related epilepsy: A multicenter European studyFederico Raviglione, Sofia Douzgou, Marcello Scala, et al.
American Journal of Human Genetics|March 30, 2023
Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhageMauro Lecca, Davut Pehlivan, Damià Heine Suñer, et al.
Plos Genetics|July 23, 2011
Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndromeMaria Clara Bonaglia, Roberto Giorda, Silvana Beri, et al.
Nature Genetics|February 28, 2012
Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndromeJeroen K J Van Houdt, Beata Anna Nowakowska, Sérgio B Sousa, et al.
European Journal of Human Genetics : EJHG|November 27, 2014
Further delineation of the KAT6B molecular and phenotypic spectrumTamsin Gannon, Rahat Perveen, Hélene Schlecht, et al.
Journal of Medical Genetics|August 16, 2023
Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literatureFrancesca Peluso, Stefano G Caraffi, Gianluca Contrò, et al.
Pageof 23