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Pawel Stankiewicz

Showing results (21-30 of 140) with videos related to

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American Journal of Medical Genetics. Part A|June 4, 2011
Recurrent partial rhombencephalosynapsis and holoprosencephaly in siblings with a mutation of ZIC2Melissa B Ramocki, Fernando Scaglia, Pawel Stankiewicz, et al.
Human Molecular Genetics|June 16, 2006
Role of genomic architecture in PLP1 duplication causing Pelizaeus-Merzbacher diseaseJennifer A Lee, Ken Inoue, Sau W Cheung, et al.
European Journal of Human Genetics : EJHG|October 6, 2016
Variants in SKP1, PROB1, and IL17B genes at keratoconus 5q31.1-q35.3 susceptibility locus identified by whole-exome sequencingJustyna A Karolak, Tomasz Gambin, Jose A Pitarque, et al.
American Journal of Medical Genetics. Part A|July 31, 2008
Branchiootorenal syndrome and oculoauriculovertebral spectrum features associated with duplication of SIX1, SIX6, and OTX2 resulting from a complex chromosomal rearrangementZhishuo Ou, Donna M Martin, Jirair K Bedoyan, et al.
Virology|February 3, 2007
Isolation and characterization of mouse-human microcell hybrid cell clones permissive for infectious HIV particle releaseAyse K Coskun, Marc van Maanen, David Janka, et al.
American Journal of Medical Genetics. Part A|September 10, 2005
Trisomy 17p10-p12 due to mosaic supernumerary marker chromosome: delineation of molecular breakpoints and clinical phenotype, and comparison to other proximal 17p segmental duplicationsSvetlana A Yatsenko, Diane Treadwell-Deering, Kevin Krull, et al.
Neurologia I Neurochirurgia Polska|October 25, 2016
CAV3 mutation in a patient with transient hyperCKemia and myalgiaAnna Macias, Tomasz Gambin, Przemyslaw Szafranski, et al.
Pediatric Pulmonology|July 4, 2023
Histologic features and decreased lung FOXF1 gene expression in severe bronchopulmonary dysplasia without a genetic diagnosis of alveolar capillary dysplasiaCsaba Galambos, J Wells Logan, Pawel Stankiewicz, et al.
American Journal of Medical Genetics. Part A|March 11, 2015
Co-segregation of Freiberg's infraction with a familial translocation t(5;7)(p13.3;p22.2) ascertained by a child with cri du chat syndrome and brachydactyly type A1BMarta Myśliwiec, Barbara Panasiuk, Maria Dębiec-Rychter, et al.
European Journal of Medical Genetics|August 24, 2010
Cornelia de Lange syndrome case due to genomic rearrangements including NIPBLMagdalena Ratajska, Jolanta Wierzba, Davut Pehlivan, et al.
Pageof 14

Showing results (21-30 of 140) with videos related to

Sort By:
Pageof 14
American Journal of Medical Genetics. Part A|June 4, 2011
Recurrent partial rhombencephalosynapsis and holoprosencephaly in siblings with a mutation of ZIC2Melissa B Ramocki, Fernando Scaglia, Pawel Stankiewicz, et al.
Human Molecular Genetics|June 16, 2006
Role of genomic architecture in PLP1 duplication causing Pelizaeus-Merzbacher diseaseJennifer A Lee, Ken Inoue, Sau W Cheung, et al.
European Journal of Human Genetics : EJHG|October 6, 2016
Variants in SKP1, PROB1, and IL17B genes at keratoconus 5q31.1-q35.3 susceptibility locus identified by whole-exome sequencingJustyna A Karolak, Tomasz Gambin, Jose A Pitarque, et al.
American Journal of Medical Genetics. Part A|July 31, 2008
Branchiootorenal syndrome and oculoauriculovertebral spectrum features associated with duplication of SIX1, SIX6, and OTX2 resulting from a complex chromosomal rearrangementZhishuo Ou, Donna M Martin, Jirair K Bedoyan, et al.
Virology|February 3, 2007
Isolation and characterization of mouse-human microcell hybrid cell clones permissive for infectious HIV particle releaseAyse K Coskun, Marc van Maanen, David Janka, et al.
American Journal of Medical Genetics. Part A|September 10, 2005
Trisomy 17p10-p12 due to mosaic supernumerary marker chromosome: delineation of molecular breakpoints and clinical phenotype, and comparison to other proximal 17p segmental duplicationsSvetlana A Yatsenko, Diane Treadwell-Deering, Kevin Krull, et al.
Neurologia I Neurochirurgia Polska|October 25, 2016
CAV3 mutation in a patient with transient hyperCKemia and myalgiaAnna Macias, Tomasz Gambin, Przemyslaw Szafranski, et al.
Pediatric Pulmonology|July 4, 2023
Histologic features and decreased lung FOXF1 gene expression in severe bronchopulmonary dysplasia without a genetic diagnosis of alveolar capillary dysplasiaCsaba Galambos, J Wells Logan, Pawel Stankiewicz, et al.
American Journal of Medical Genetics. Part A|March 11, 2015
Co-segregation of Freiberg's infraction with a familial translocation t(5;7)(p13.3;p22.2) ascertained by a child with cri du chat syndrome and brachydactyly type A1BMarta Myśliwiec, Barbara Panasiuk, Maria Dębiec-Rychter, et al.
European Journal of Medical Genetics|August 24, 2010
Cornelia de Lange syndrome case due to genomic rearrangements including NIPBLMagdalena Ratajska, Jolanta Wierzba, Davut Pehlivan, et al.
Pageof 14