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Clinical Case Reports
|
August 16, 2016
An 8.4-Mb 3q26.33-3q28 microdeletion in a patient with blepharophimosis-intellectual disability syndrome and a review of the literature
Katrin Õunap, Sander Pajusalu, Olga Zilina, et al.
European Journal of Medical Genetics
|
April 8, 2014
Mosaicism for maternal uniparental disomy 15 in a boy with some clinical features of Prader-Willi syndrome
Olga Zilina, Tiina Kahre, Inga Talvik, et al.
Journal of Applied Genetics
|
November 30, 2011
Balanced reciprocal translocation t(5;13)(q33;q12) and 9q31.1 microduplication in a man suffering from infertility and pollinosis
Ruth Mikelsaar, Mari Nelis, Ants Kurg, et al.
European Journal of Medical Genetics
|
April 25, 2015
De novo deletion of HOXB gene cluster in a patient with failure to thrive, developmental delay, gastroesophageal reflux and bronchiectasis
Sander Pajusalu, Tiia Reimand, Oivi Uibo, 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 loss
Helen Puusepp, Olga Zilina, Rita Teek, 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 sequences
Ludmila Kousoulidou, Katrin Männik, Olga Zilina, et al.
Molecular Genetics & Genomic Medicine
|
April 2, 2014
Chromosomal microarray analysis as a first-tier clinical diagnostic test: Estonian experience
Olga Zilina, Rita Teek, Pille Tammur, et al.
European Journal of Medical Genetics
|
June 21, 2011
9 Mb familial duplication in chromosome band Xp22.2-22.13 associated with mental retardation, hypotonia and developmental delay, scoliosis, cardiovascular problems and mild dysmorphic facial features
Carolina Sismani, Violetta Anastasiadou, Ludmila Kousoulidou, et al.
Nature Protocols
|
May 3, 2008
Array-MAPH: a methodology for the detection of locus copy-number changes in complex genomes
Ludmila 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 hybridization
Philippos C Patsalis, Ludmila Kousoulidou, Katrin Männik, et al.
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of 2
Search research articles
Search
Showing results (1-10 of 12) with videos related to
Sort By:
Page
of 2
Clinical Case Reports
|
August 16, 2016
An 8.4-Mb 3q26.33-3q28 microdeletion in a patient with blepharophimosis-intellectual disability syndrome and a review of the literature
Katrin Õunap, Sander Pajusalu, Olga Zilina, et al.
European Journal of Medical Genetics
|
April 8, 2014
Mosaicism for maternal uniparental disomy 15 in a boy with some clinical features of Prader-Willi syndrome
Olga Zilina, Tiina Kahre, Inga Talvik, et al.
Journal of Applied Genetics
|
November 30, 2011
Balanced reciprocal translocation t(5;13)(q33;q12) and 9q31.1 microduplication in a man suffering from infertility and pollinosis
Ruth Mikelsaar, Mari Nelis, Ants Kurg, et al.
European Journal of Medical Genetics
|
April 25, 2015
De novo deletion of HOXB gene cluster in a patient with failure to thrive, developmental delay, gastroesophageal reflux and bronchiectasis
Sander Pajusalu, Tiia Reimand, Oivi Uibo, 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 loss
Helen Puusepp, Olga Zilina, Rita Teek, 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 sequences
Ludmila Kousoulidou, Katrin Männik, Olga Zilina, et al.
Molecular Genetics & Genomic Medicine
|
April 2, 2014
Chromosomal microarray analysis as a first-tier clinical diagnostic test: Estonian experience
Olga Zilina, Rita Teek, Pille Tammur, et al.
European Journal of Medical Genetics
|
June 21, 2011
9 Mb familial duplication in chromosome band Xp22.2-22.13 associated with mental retardation, hypotonia and developmental delay, scoliosis, cardiovascular problems and mild dysmorphic facial features
Carolina Sismani, Violetta Anastasiadou, Ludmila Kousoulidou, et al.
Nature Protocols
|
May 3, 2008
Array-MAPH: a methodology for the detection of locus copy-number changes in complex genomes
Ludmila 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 hybridization
Philippos C Patsalis, Ludmila Kousoulidou, Katrin Männik, et al.
Page
of 2