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Pawel Stankiewicz

Showing results (81-90 of 140) with videos related to

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Genome Research|May 21, 2013
Deletions of recessive disease genes: CNV contribution to carrier states and disease-causing allelesPhilip M Boone, Ian M Campbell, Brett C Baggett, et al.
European Journal of Human Genetics : EJHG|September 22, 2011
Delineation of a deletion region critical for corpus callosal abnormalities in chromosome 1q43-q44Sandesh C Sreenath Nagamani, Ayelet Erez, Carolyn Bay, et al.
American Journal of Medical Genetics. Part A|January 19, 2008
De novo three-way chromosome translocation 46,XY,t(4;6;21)(p16;p21.1;q21) in a male with cleidocranial dysplasiaSmita M Purandare, Roberto Mendoza-Londono, Svetlana A Yatsenko, et al.
Pediatrics|December 3, 2008
Genomic imbalances in neonates with birth defects: high detection rates by using chromosomal microarray analysisXin-Yan Lu, Mai T Phung, Chad A Shaw, et al.
American Journal of Medical Genetics. Part A|October 15, 2013
Expanding the genotype-phenotype correlation in subtelomeric 19p13.3 microdeletions using high resolution clinical chromosomal microarray analysisSirisha Peddibhotla, Mohamed Khalifa, Frank J Probst, et al.
Human Genetics|June 27, 2009
Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mappingAyman W El-Hattab, Teresa A Smolarek, Martha E Walker, et al.
American Journal of Medical Genetics. Part A|July 30, 2008
Identification of chromosome abnormalities in subtelomeric regions by microarray analysis: a study of 5,380 casesLina Shao, Chad A Shaw, Xin-Yan Lu, et al.
Plos One|April 12, 2014
Comparative analyses of lung transcriptomes in patients with alveolar capillary dysplasia with misalignment of pulmonary veins and in foxf1 heterozygous knockout micePartha Sen, Avinash V Dharmadhikari, Tadeusz Majewski, et al.
American Journal of Human Genetics|March 24, 2015
Absence of heterozygosity due to template switching during replicative rearrangementsClaudia M B Carvalho, Rolph Pfundt, Daniel A King, et al.
BMC Medical Genetics|December 5, 2014
Molecular and clinical analyses of 16q24.1 duplications involving FOXF1 identify an evolutionarily unstable large minisatelliteAvinash V Dharmadhikari, Tomasz Gambin, Przemyslaw Szafranski, et al.
Pageof 14

Showing results (81-90 of 140) with videos related to

Sort By:
Pageof 14
Genome Research|May 21, 2013
Deletions of recessive disease genes: CNV contribution to carrier states and disease-causing allelesPhilip M Boone, Ian M Campbell, Brett C Baggett, et al.
European Journal of Human Genetics : EJHG|September 22, 2011
Delineation of a deletion region critical for corpus callosal abnormalities in chromosome 1q43-q44Sandesh C Sreenath Nagamani, Ayelet Erez, Carolyn Bay, et al.
American Journal of Medical Genetics. Part A|January 19, 2008
De novo three-way chromosome translocation 46,XY,t(4;6;21)(p16;p21.1;q21) in a male with cleidocranial dysplasiaSmita M Purandare, Roberto Mendoza-Londono, Svetlana A Yatsenko, et al.
Pediatrics|December 3, 2008
Genomic imbalances in neonates with birth defects: high detection rates by using chromosomal microarray analysisXin-Yan Lu, Mai T Phung, Chad A Shaw, et al.
American Journal of Medical Genetics. Part A|October 15, 2013
Expanding the genotype-phenotype correlation in subtelomeric 19p13.3 microdeletions using high resolution clinical chromosomal microarray analysisSirisha Peddibhotla, Mohamed Khalifa, Frank J Probst, et al.
Human Genetics|June 27, 2009
Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mappingAyman W El-Hattab, Teresa A Smolarek, Martha E Walker, et al.
American Journal of Medical Genetics. Part A|July 30, 2008
Identification of chromosome abnormalities in subtelomeric regions by microarray analysis: a study of 5,380 casesLina Shao, Chad A Shaw, Xin-Yan Lu, et al.
Plos One|April 12, 2014
Comparative analyses of lung transcriptomes in patients with alveolar capillary dysplasia with misalignment of pulmonary veins and in foxf1 heterozygous knockout micePartha Sen, Avinash V Dharmadhikari, Tadeusz Majewski, et al.
American Journal of Human Genetics|March 24, 2015
Absence of heterozygosity due to template switching during replicative rearrangementsClaudia M B Carvalho, Rolph Pfundt, Daniel A King, et al.
BMC Medical Genetics|December 5, 2014
Molecular and clinical analyses of 16q24.1 duplications involving FOXF1 identify an evolutionarily unstable large minisatelliteAvinash V Dharmadhikari, Tomasz Gambin, Przemyslaw Szafranski, et al.
Pageof 14