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Pawel Stankiewicz

Showing results (91-100 of 140) with videos related to

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Plos One|March 29, 2007
Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal casesXinyan Lu, Chad A Shaw, Ankita Patel, et al.
American Journal of Medical Genetics. Part A|April 14, 2007
Ovotestes and XY sex reversal in a female with an interstitial 9q33.3-q34.1 deletion encompassing NR5A1 and LMX1B causing features of Genitopatellar syndromeSilke Schlaubitz, Svetlana A Yatsenko, Laurie D Smith, et al.
Human Mutation|May 28, 2010
Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological?Przemyslaw Szafranski, Christian P Schaaf, Richard E Person, et al.
Genome Medicine|July 28, 2019
A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencingYe Cao, Mari J Tokita, Edward S Chen, et al.
Pediatric Neurology|June 27, 2024
Epilepsy as a Novel Phenotype of BPTF-Related DisordersAlessandro Ferretti, Margherita Furlan, Kevin E Glinton, et al.
European Journal of Human Genetics : EJHG|December 15, 2010
Phenotypic manifestations of copy number variation in chromosome 16p13.11Sandesh C Sreenath Nagamani, Ayelet Erez, Patricia Bader, et al.
Human Molecular Genetics|March 28, 2009
Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switchingClaudia M B Carvalho, Feng Zhang, Pengfei Liu, et al.
The Journal of Molecular Diagnostics : JMD|February 10, 2020
Highly Sensitive Blocker Displacement Amplification and Droplet Digital PCR Reveal Low-Level Parental FOXF1 Somatic Mosaicism in Families with Alveolar Capillary Dysplasia with Misalignment of Pulmonary VeinsJustyna A Karolak, Qian Liu, Nina G Xie, et al.
American Journal of Respiratory and Critical Care Medicine|July 18, 2023
Single Cell Multiomics Identifies Cells and Genetic Networks Underlying Alveolar Capillary DysplasiaMinzhe Guo, Kathryn A Wikenheiser-Brokamp, Joseph A Kitzmiller, et al.
Molecular Cytogenetics|April 7, 2012
Deletions in chromosome 6p22.3-p24.3, including ATXN1, are associated with developmental delay and autism spectrum disordersPatrícia Bs Celestino-Soper, Cindy Skinner, Richard Schroer, et al.
Pageof 14

Showing results (91-100 of 140) with videos related to

Sort By:
Pageof 14
Plos One|March 29, 2007
Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal casesXinyan Lu, Chad A Shaw, Ankita Patel, et al.
American Journal of Medical Genetics. Part A|April 14, 2007
Ovotestes and XY sex reversal in a female with an interstitial 9q33.3-q34.1 deletion encompassing NR5A1 and LMX1B causing features of Genitopatellar syndromeSilke Schlaubitz, Svetlana A Yatsenko, Laurie D Smith, et al.
Human Mutation|May 28, 2010
Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological?Przemyslaw Szafranski, Christian P Schaaf, Richard E Person, et al.
Genome Medicine|July 28, 2019
A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencingYe Cao, Mari J Tokita, Edward S Chen, et al.
Pediatric Neurology|June 27, 2024
Epilepsy as a Novel Phenotype of BPTF-Related DisordersAlessandro Ferretti, Margherita Furlan, Kevin E Glinton, et al.
European Journal of Human Genetics : EJHG|December 15, 2010
Phenotypic manifestations of copy number variation in chromosome 16p13.11Sandesh C Sreenath Nagamani, Ayelet Erez, Patricia Bader, et al.
Human Molecular Genetics|March 28, 2009
Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switchingClaudia M B Carvalho, Feng Zhang, Pengfei Liu, et al.
The Journal of Molecular Diagnostics : JMD|February 10, 2020
Highly Sensitive Blocker Displacement Amplification and Droplet Digital PCR Reveal Low-Level Parental FOXF1 Somatic Mosaicism in Families with Alveolar Capillary Dysplasia with Misalignment of Pulmonary VeinsJustyna A Karolak, Qian Liu, Nina G Xie, et al.
American Journal of Respiratory and Critical Care Medicine|July 18, 2023
Single Cell Multiomics Identifies Cells and Genetic Networks Underlying Alveolar Capillary DysplasiaMinzhe Guo, Kathryn A Wikenheiser-Brokamp, Joseph A Kitzmiller, et al.
Molecular Cytogenetics|April 7, 2012
Deletions in chromosome 6p22.3-p24.3, including ATXN1, are associated with developmental delay and autism spectrum disordersPatrícia Bs Celestino-Soper, Cindy Skinner, Richard Schroer, et al.
Pageof 14