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Katrin Männik

Showing results (1-10 of 19) with videos related to

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European Journal of Medical Genetics|September 24, 2005
MAPH: from gels to microarraysPhilippos C Patsalis, Ludmila Kousoulidou, Carolina Sismani, et al.
Clinical Chemistry and Laboratory Medicine|July 5, 2008
Application of two different microarray-based copy-number detection methodologies--array-comparative genomic hybridization and array-multiplex amplifiable probe hybridization--with identical amplifiable target sequencesLudmila Kousoulidou, Katrin Männik, Olga Zilina, et al.
European Journal of Medical Genetics|November 6, 2008
5.9 Mb microdeletion in chromosome band 17q22-q23.2 associated with tracheo-esophageal fistula and conductive hearing lossHelen Puusepp, Olga Zilina, Rita Teek, et al.
Nature Protocols|May 3, 2008
Array-MAPH: a methodology for the detection of locus copy-number changes in complex genomesLudmila Kousoulidou, Katrin Männik, Carolina Sismani, et al.
European Journal of Human Genetics : EJHG|November 23, 2006
Detection of small genomic imbalances using microarray-based multiplex amplifiable probe hybridizationPhilippos C Patsalis, Ludmila Kousoulidou, Katrin Männik, et al.
Personalized Medicine|May 12, 2018
Reporting incidental findings of genomic disorder-associated copy number variants to unselected biobank participantsLiis Leitsalu, Helene Alavere, Sébastien Jacquemont, et al.
European Journal of Medical Genetics|November 30, 2010
A parallel SNP array study of genomic aberrations associated with mental retardation in patients and general population in EstoniaKatrin Männik, Sven Parkel, Priit Palta, et al.
Human Mutation|December 21, 2013
Increased dosage of RAB39B affects neuronal development and could explain the cognitive impairment in male patients with distal Xq28 copy number gainsLieselot Vanmarsenille, Maila Giannandrea, Nathalie Fieremans, et al.
American Journal of Human Genetics|November 1, 2019
The Human-Specific BOLA2 Duplication Modifies Iron Homeostasis and Anemia Predisposition in Chromosome 16p11.2 Autism IndividualsGiuliana Giannuzzi, Paul J Schmidt, Eleonora Porcu, et al.
American Journal of Human Genetics|May 5, 2015
A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 PathologyEugenia Migliavacca, Christelle Golzio, Katrin Männik, et al.
Pageof 2

Showing results (1-10 of 19) with videos related to

Sort By:
Pageof 2
European Journal of Medical Genetics|September 24, 2005
MAPH: from gels to microarraysPhilippos C Patsalis, Ludmila Kousoulidou, Carolina Sismani, et al.
Clinical Chemistry and Laboratory Medicine|July 5, 2008
Application of two different microarray-based copy-number detection methodologies--array-comparative genomic hybridization and array-multiplex amplifiable probe hybridization--with identical amplifiable target sequencesLudmila Kousoulidou, Katrin Männik, Olga Zilina, et al.
European Journal of Medical Genetics|November 6, 2008
5.9 Mb microdeletion in chromosome band 17q22-q23.2 associated with tracheo-esophageal fistula and conductive hearing lossHelen Puusepp, Olga Zilina, Rita Teek, et al.
Nature Protocols|May 3, 2008
Array-MAPH: a methodology for the detection of locus copy-number changes in complex genomesLudmila Kousoulidou, Katrin Männik, Carolina Sismani, et al.
European Journal of Human Genetics : EJHG|November 23, 2006
Detection of small genomic imbalances using microarray-based multiplex amplifiable probe hybridizationPhilippos C Patsalis, Ludmila Kousoulidou, Katrin Männik, et al.
Personalized Medicine|May 12, 2018
Reporting incidental findings of genomic disorder-associated copy number variants to unselected biobank participantsLiis Leitsalu, Helene Alavere, Sébastien Jacquemont, et al.
European Journal of Medical Genetics|November 30, 2010
A parallel SNP array study of genomic aberrations associated with mental retardation in patients and general population in EstoniaKatrin Männik, Sven Parkel, Priit Palta, et al.
Human Mutation|December 21, 2013
Increased dosage of RAB39B affects neuronal development and could explain the cognitive impairment in male patients with distal Xq28 copy number gainsLieselot Vanmarsenille, Maila Giannandrea, Nathalie Fieremans, et al.
American Journal of Human Genetics|November 1, 2019
The Human-Specific BOLA2 Duplication Modifies Iron Homeostasis and Anemia Predisposition in Chromosome 16p11.2 Autism IndividualsGiuliana Giannuzzi, Paul J Schmidt, Eleonora Porcu, et al.
American Journal of Human Genetics|May 5, 2015
A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 PathologyEugenia Migliavacca, Christelle Golzio, Katrin Männik, et al.
Pageof 2