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Pawel Stankiewicz

Showing results (111-120 of 140) with videos related to

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Human Genetics|September 5, 2015
Copy number variants in patients with intellectual disability affect the regulation of ARX transcription factor geneMinaka Ishibashi, Elizabeth Manning, Cheryl Shoubridge, et al.
Pediatric Neurology|July 4, 2025
Cyclical Vomiting Syndrome in Individuals With BPTF HaploinsufficiencyAlessandro Ferretti, Margherita Furlan, Kevin E Glinton, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 23, 2012
Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1AIan M Campbell, Svetlana A Yatsenko, Patricia Hixson, et al.
Genome Medicine|April 25, 2019
Interchromosomal template-switching as a novel molecular mechanism for imprinting perturbations associated with Temple syndromeClaudia M B Carvalho, Zeynep Coban-Akdemir, Hadia Hijazi, et al.
The New England Journal of Medicine|March 12, 2010
Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathyJames R Lupski, Jeffrey G Reid, Claudia Gonzaga-Jauregui, et al.
Orphanet Journal of Rare Diseases|May 16, 2016
Complex translocation disrupting TCF4 and altering TCF4 isoform expression segregates as mild autosomal dominant intellectual disabilityValerie Maduro, Barbara N Pusey, Praveen F Cherukuri, et al.
Human Molecular Genetics|March 1, 2011
Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplicationsPengfei Liu, Ayelet Erez, Sandesh C Sreenath Nagamani, et al.
American Journal of Human Genetics|July 29, 2014
The Alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV allelesPhilip M Boone, Bo Yuan, Ian M Campbell, et al.
American Journal of Human Genetics|March 9, 2010
Identification of a recurrent microdeletion at 17q23.1q23.2 flanked by segmental duplications associated with heart defects and limb abnormalitiesBlake C Ballif, Aaron Theisen, Jill A Rosenfeld, et al.
European Journal of Human Genetics : EJHG|May 24, 2012
Phenotypic spectrum and genotype-phenotype correlations of NRXN1 exon deletionsChristian P Schaaf, Philip M Boone, Srirangan Sampath, et al.
Pageof 14

Showing results (111-120 of 140) with videos related to

Sort By:
Pageof 14
Human Genetics|September 5, 2015
Copy number variants in patients with intellectual disability affect the regulation of ARX transcription factor geneMinaka Ishibashi, Elizabeth Manning, Cheryl Shoubridge, et al.
Pediatric Neurology|July 4, 2025
Cyclical Vomiting Syndrome in Individuals With BPTF HaploinsufficiencyAlessandro Ferretti, Margherita Furlan, Kevin E Glinton, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 23, 2012
Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1AIan M Campbell, Svetlana A Yatsenko, Patricia Hixson, et al.
Genome Medicine|April 25, 2019
Interchromosomal template-switching as a novel molecular mechanism for imprinting perturbations associated with Temple syndromeClaudia M B Carvalho, Zeynep Coban-Akdemir, Hadia Hijazi, et al.
The New England Journal of Medicine|March 12, 2010
Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathyJames R Lupski, Jeffrey G Reid, Claudia Gonzaga-Jauregui, et al.
Orphanet Journal of Rare Diseases|May 16, 2016
Complex translocation disrupting TCF4 and altering TCF4 isoform expression segregates as mild autosomal dominant intellectual disabilityValerie Maduro, Barbara N Pusey, Praveen F Cherukuri, et al.
Human Molecular Genetics|March 1, 2011
Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplicationsPengfei Liu, Ayelet Erez, Sandesh C Sreenath Nagamani, et al.
American Journal of Human Genetics|July 29, 2014
The Alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV allelesPhilip M Boone, Bo Yuan, Ian M Campbell, et al.
American Journal of Human Genetics|March 9, 2010
Identification of a recurrent microdeletion at 17q23.1q23.2 flanked by segmental duplications associated with heart defects and limb abnormalitiesBlake C Ballif, Aaron Theisen, Jill A Rosenfeld, et al.
European Journal of Human Genetics : EJHG|May 24, 2012
Phenotypic spectrum and genotype-phenotype correlations of NRXN1 exon deletionsChristian P Schaaf, Philip M Boone, Srirangan Sampath, et al.
Pageof 14