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Pawel Stankiewicz

Showing results (61-70 of 140) with videos related to

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Journal of Medical Genetics|October 11, 2011
Int22h-1/int22h-2-mediated Xq28 rearrangements: intellectual disability associated with duplications and in utero male lethality with deletionsAyman W El-Hattab, Ping Fang, Weihong Jin, et al.
Neurogenetics|May 28, 2009
Alu-specific microhomology-mediated deletions in CDKL5 in females with early-onset seizure disorderAyelet Erez, Amina J Patel, Xueqing Wang, et al.
Journal of Medical Genetics|October 9, 2012
Co-occurrence of recurrent duplications of the DiGeorge syndrome region on both chromosome 22 homologues due to inherited and de novo eventsWeimin Bi, Frank J Probst, Joanna Wiszniewska, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2012
Comparison of chromosome analysis and chromosomal microarray analysis: what is the value of chromosome analysis in today's genomic array era?Weimin Bi, Caroline Borgan, Amber N Pursley, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 11, 2012
Incidental copy-number variants identified by routine genome testing in a clinical populationPhilip M Boone, Zachry T Soens, Ian M Campbell, et al.
Neurogenetics|August 15, 2012
Small genomic rearrangements involving FMR1 support the importance of its gene dosage for normal neurocognitive functionSandesh C S Nagamani, Ayelet Erez, Frank J Probst, et al.
The Journal of Pediatrics|December 5, 2017
Infants with Atypical Presentations of Alveolar Capillary Dysplasia with Misalignment of the Pulmonary Veins Who Underwent Bilateral Lung TransplantationChristopher T Towe, Frances V White, R Mark Grady, et al.
Human Mutation|March 2, 2017
Characterization of chromosomal abnormalities in pregnancy losses reveals critical genes and loci for human early developmentYiyun Chen, Justin Bartanus, Desheng Liang, et al.
Human Genomics|May 1, 2026
Inherited TBX4 frameshifting variants predicted to escape nonsense mediated decay in two families with variable phenotypes, including lethal lung developmental disordersShruti A Pande, Hiuling Chan Joiner, Przemyslaw Szafranski, et al.
European Journal of Human Genetics : EJHG|January 16, 2014
CHRNA7 triplication associated with cognitive impairment and neuropsychiatric phenotypes in a three-generation pedigreeClaudia Soler-Alfonso, Claudia M B Carvalho, Jun Ge, et al.
Pageof 14

Showing results (61-70 of 140) with videos related to

Sort By:
Pageof 14
Journal of Medical Genetics|October 11, 2011
Int22h-1/int22h-2-mediated Xq28 rearrangements: intellectual disability associated with duplications and in utero male lethality with deletionsAyman W El-Hattab, Ping Fang, Weihong Jin, et al.
Neurogenetics|May 28, 2009
Alu-specific microhomology-mediated deletions in CDKL5 in females with early-onset seizure disorderAyelet Erez, Amina J Patel, Xueqing Wang, et al.
Journal of Medical Genetics|October 9, 2012
Co-occurrence of recurrent duplications of the DiGeorge syndrome region on both chromosome 22 homologues due to inherited and de novo eventsWeimin Bi, Frank J Probst, Joanna Wiszniewska, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2012
Comparison of chromosome analysis and chromosomal microarray analysis: what is the value of chromosome analysis in today's genomic array era?Weimin Bi, Caroline Borgan, Amber N Pursley, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 11, 2012
Incidental copy-number variants identified by routine genome testing in a clinical populationPhilip M Boone, Zachry T Soens, Ian M Campbell, et al.
Neurogenetics|August 15, 2012
Small genomic rearrangements involving FMR1 support the importance of its gene dosage for normal neurocognitive functionSandesh C S Nagamani, Ayelet Erez, Frank J Probst, et al.
The Journal of Pediatrics|December 5, 2017
Infants with Atypical Presentations of Alveolar Capillary Dysplasia with Misalignment of the Pulmonary Veins Who Underwent Bilateral Lung TransplantationChristopher T Towe, Frances V White, R Mark Grady, et al.
Human Mutation|March 2, 2017
Characterization of chromosomal abnormalities in pregnancy losses reveals critical genes and loci for human early developmentYiyun Chen, Justin Bartanus, Desheng Liang, et al.
Human Genomics|May 1, 2026
Inherited TBX4 frameshifting variants predicted to escape nonsense mediated decay in two families with variable phenotypes, including lethal lung developmental disordersShruti A Pande, Hiuling Chan Joiner, Przemyslaw Szafranski, et al.
European Journal of Human Genetics : EJHG|January 16, 2014
CHRNA7 triplication associated with cognitive impairment and neuropsychiatric phenotypes in a three-generation pedigreeClaudia Soler-Alfonso, Claudia M B Carvalho, Jun Ge, et al.
Pageof 14