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Pawel Stankiewicz

Showing results (71-80 of 140) with videos related to

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Journal of Medical Genetics|October 31, 2019
Disruption of normal patterns of FOXF1 expression in a lethal disorder of lung developmentLaurie A Steiner, Michael Getman, Gillian M Schiralli Lester, et al.
European Journal of Human Genetics : EJHG|January 9, 2014
Somatic mosaicism detected by exon-targeted, high-resolution aCGH in 10,362 consecutive casesJustin Pham, Chad Shaw, Amber Pursley, et al.
American Journal of Respiratory and Critical Care Medicine|June 15, 2019
The S52F FOXF1 Mutation Inhibits STAT3 Signaling and Causes Alveolar Capillary DysplasiaArun Pradhan, Andrew Dunn, Vladimir Ustiyan, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 19, 2005
Development and validation of a CGH microarray for clinical cytogenetic diagnosisSau W Cheung, Chad A Shaw, Wei Yu, et al.
American Journal of Medical Genetics. Part A|March 27, 2010
Insertional translocation detected using FISH confirmation of array-comparative genomic hybridization (aCGH) resultsSung-Hae L Kang, Chad Shaw, Zhishuo Ou, et al.
European Journal of Human Genetics : EJHG|October 22, 2009
Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12Sandesh Chakravarthy Sreenath Nagamani, Ayelet Erez, Joseph Shen, et al.
American Journal of Medical Genetics. Part A|October 28, 2010
HERV-mediated genomic rearrangement of EYA1 in an individual with branchio-oto-renal syndromeAmarilis Sanchez-Valle, Xueqing Wang, Lorraine Potocki, et al.
Journal of the Association for Research in Otolaryngology : JARO|March 3, 2012
Head bobber: an insertional mutation causes inner ear defects, hyperactive circling, and deafnessGiuseppina Somma, Heather M Alger, Ryan M McGuire, et al.
Genomics|May 11, 2020
Parental somatic mosaicism for CNV deletions - A need for more sensitive and precise detection methods in clinical diagnostics settingsQian Liu, Justyna A Karolak, Christopher M Grochowski, et al.
Nature Genetics|November 10, 2009
A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypesMarwan Shinawi, Christian P Schaaf, Samarth S Bhatt, et al.
Pageof 14

Showing results (71-80 of 140) with videos related to

Sort By:
Pageof 14
Journal of Medical Genetics|October 31, 2019
Disruption of normal patterns of FOXF1 expression in a lethal disorder of lung developmentLaurie A Steiner, Michael Getman, Gillian M Schiralli Lester, et al.
European Journal of Human Genetics : EJHG|January 9, 2014
Somatic mosaicism detected by exon-targeted, high-resolution aCGH in 10,362 consecutive casesJustin Pham, Chad Shaw, Amber Pursley, et al.
American Journal of Respiratory and Critical Care Medicine|June 15, 2019
The S52F FOXF1 Mutation Inhibits STAT3 Signaling and Causes Alveolar Capillary DysplasiaArun Pradhan, Andrew Dunn, Vladimir Ustiyan, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 19, 2005
Development and validation of a CGH microarray for clinical cytogenetic diagnosisSau W Cheung, Chad A Shaw, Wei Yu, et al.
American Journal of Medical Genetics. Part A|March 27, 2010
Insertional translocation detected using FISH confirmation of array-comparative genomic hybridization (aCGH) resultsSung-Hae L Kang, Chad Shaw, Zhishuo Ou, et al.
European Journal of Human Genetics : EJHG|October 22, 2009
Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12Sandesh Chakravarthy Sreenath Nagamani, Ayelet Erez, Joseph Shen, et al.
American Journal of Medical Genetics. Part A|October 28, 2010
HERV-mediated genomic rearrangement of EYA1 in an individual with branchio-oto-renal syndromeAmarilis Sanchez-Valle, Xueqing Wang, Lorraine Potocki, et al.
Journal of the Association for Research in Otolaryngology : JARO|March 3, 2012
Head bobber: an insertional mutation causes inner ear defects, hyperactive circling, and deafnessGiuseppina Somma, Heather M Alger, Ryan M McGuire, et al.
Genomics|May 11, 2020
Parental somatic mosaicism for CNV deletions - A need for more sensitive and precise detection methods in clinical diagnostics settingsQian Liu, Justyna A Karolak, Christopher M Grochowski, et al.
Nature Genetics|November 10, 2009
A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypesMarwan Shinawi, Christian P Schaaf, Samarth S Bhatt, et al.
Pageof 14