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Pawel Stankiewicz

Showing results (31-40 of 140) with videos related to

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European Journal of Human Genetics : EJHG|September 20, 2012
A familial case of alveolar capillary dysplasia with misalignment of pulmonary veins supports paternal imprinting of FOXF1 in humanPartha Sen, Romana Gerychova, Petr Janku, et al.
European Journal of Human Genetics : EJHG|March 15, 2013
Intragenic deletions of the IGF1 receptor gene in five individuals with psychiatric phenotypes and developmental delayJens Witsch, Przemyslaw Szafranski, Chun-An Chen, et al.
Molecular Cytogenetics|July 29, 2008
Mosaicism for r(X) and der(X)del(X)(p11.23)dup(X)(p11.21p11.22) provides insight into the possible mechanism of rearrangementOleg A Shchelochkov, M Lance Cooper, Zhishuo Ou, et al.
Neuro-Oncology|May 11, 2012
Early recurrence in standard-risk medulloblastoma patients with the common idic(17)(p11.2) rearrangementGabriel A Bien-Willner, Dolores López-Terrada, Meena B Bhattacharjee, et al.
Acta Ophthalmologica|January 26, 2016
Evidence against ZNF469 being causative for keratoconus in Polish patientsJustyna A Karolak, Tomasz Gambin, Malgorzata Rydzanicz, et al.
American Journal of Medical Genetics. Part A|May 14, 2011
TGFBR2 deletion in a 20-month-old female with developmental delay and microcephalyIan M Campbell, Katarzyna E Kolodziejska, Michael M Quach, et al.
American Journal of Medical Genetics. Part A|April 12, 2011
A de novo deletion of CALN1 in a male with a bilateral diaphragmatic defect does not definitely cause this malformationAnne M Slavotinek, Jill A Rosenfeld, Ryan Chao, et al.
Advances in Medical Sciences|March 12, 2021
Variants in FLRT3 and SLC35E2B identified using exome sequencing in seven high myopia families from Central EuropeJoanna Swierkowska, Justyna A Karolak, Tomasz Gambin, et al.
Human Molecular Genetics|August 7, 2007
Hominoid lineage specific amplification of low-copy repeats on 22q11.2 (LCR22s) associated with velo-cardio-facial/digeorge syndromeMelanie Babcock, Svetlana Yatsenko, Janet Hopkins, et al.
American Journal of Medical Genetics. Part A|November 10, 2005
Molecular cytogenetic characterization of a familial der(1)del(1)(p36.33)dup(1)(p36.33p36.22) with variable phenotypeVijay S Tonk, Golder N Wilson, Svetlana A Yatsenko, et al.
Pageof 14

Showing results (31-40 of 140) with videos related to

Sort By:
Pageof 14
European Journal of Human Genetics : EJHG|September 20, 2012
A familial case of alveolar capillary dysplasia with misalignment of pulmonary veins supports paternal imprinting of FOXF1 in humanPartha Sen, Romana Gerychova, Petr Janku, et al.
European Journal of Human Genetics : EJHG|March 15, 2013
Intragenic deletions of the IGF1 receptor gene in five individuals with psychiatric phenotypes and developmental delayJens Witsch, Przemyslaw Szafranski, Chun-An Chen, et al.
Molecular Cytogenetics|July 29, 2008
Mosaicism for r(X) and der(X)del(X)(p11.23)dup(X)(p11.21p11.22) provides insight into the possible mechanism of rearrangementOleg A Shchelochkov, M Lance Cooper, Zhishuo Ou, et al.
Neuro-Oncology|May 11, 2012
Early recurrence in standard-risk medulloblastoma patients with the common idic(17)(p11.2) rearrangementGabriel A Bien-Willner, Dolores López-Terrada, Meena B Bhattacharjee, et al.
Acta Ophthalmologica|January 26, 2016
Evidence against ZNF469 being causative for keratoconus in Polish patientsJustyna A Karolak, Tomasz Gambin, Malgorzata Rydzanicz, et al.
American Journal of Medical Genetics. Part A|May 14, 2011
TGFBR2 deletion in a 20-month-old female with developmental delay and microcephalyIan M Campbell, Katarzyna E Kolodziejska, Michael M Quach, et al.
American Journal of Medical Genetics. Part A|April 12, 2011
A de novo deletion of CALN1 in a male with a bilateral diaphragmatic defect does not definitely cause this malformationAnne M Slavotinek, Jill A Rosenfeld, Ryan Chao, et al.
Advances in Medical Sciences|March 12, 2021
Variants in FLRT3 and SLC35E2B identified using exome sequencing in seven high myopia families from Central EuropeJoanna Swierkowska, Justyna A Karolak, Tomasz Gambin, et al.
Human Molecular Genetics|August 7, 2007
Hominoid lineage specific amplification of low-copy repeats on 22q11.2 (LCR22s) associated with velo-cardio-facial/digeorge syndromeMelanie Babcock, Svetlana Yatsenko, Janet Hopkins, et al.
American Journal of Medical Genetics. Part A|November 10, 2005
Molecular cytogenetic characterization of a familial der(1)del(1)(p36.33)dup(1)(p36.33p36.22) with variable phenotypeVijay S Tonk, Golder N Wilson, Svetlana A Yatsenko, et al.
Pageof 14