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Methods in Molecular Biology (Clifton, N.J.)
|
August 20, 2010
Multiplex Amplifiable Probe Hybridization (MAPH) methodology as an alternative to comparative genomic hybridization (CGH)
Ludmila Kousoulidou, Carolina Sismani, Philippos C Patsalis
European Journal of Medical Genetics
|
September 24, 2005
MAPH: from gels to microarrays
Philippos C Patsalis, Ludmila Kousoulidou, Carolina Sismani, et al.
European Journal of Medical Genetics
|
March 27, 2013
263.4 kb deletion within the TCF4 gene consistent with Pitt-Hopkins syndrome, inherited from a mosaic parent with normal phenotype
Ludmila Kousoulidou, George Tanteles, Maria Moutafi, et al.
Biomed Research International
|
November 22, 2013
Screening of 50 cypriot patients with autism spectrum disorders or autistic features using 400K custom array-CGH
Ludmila Kousoulidou, Maria Moutafi, Paola Nicolaides, et al.
Clinical Case Reports
|
March 9, 2019
De novo mosaic <i>MECP2</i> mutation in a female with Rett syndrome
Angelos Alexandrou, Ioannis Papaevripidou, Ioanna Maria Alexandrou, et al.
European Journal of Medical Genetics
|
March 1, 2011
21 Mb deletion in chromosome band 13q22.2q32.1 associated with mild/moderate psychomotor retardation, growth hormone insufficiency, short neck, micrognathia, hypotonia, dysplastic ears and other dysmorphic features
Panagiota Grigori, Elena Panayiotou, Carolina Sismani, 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.
Molecular Cytogenetics
|
May 22, 2023
Hereditary multiple exostoses caused by a chromosomal inversion removing part of EXT1 gene
Angelos Alexandrou, Nicole Salameh, Ioannis Papaevripidou, et al.
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Search research articles
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Showing results (1-10 of 21) with videos related to
Sort By:
Page
of 3
Methods in Molecular Biology (Clifton, N.J.)
|
August 20, 2010
Multiplex Amplifiable Probe Hybridization (MAPH) methodology as an alternative to comparative genomic hybridization (CGH)
Ludmila Kousoulidou, Carolina Sismani, Philippos C Patsalis
European Journal of Medical Genetics
|
September 24, 2005
MAPH: from gels to microarrays
Philippos C Patsalis, Ludmila Kousoulidou, Carolina Sismani, et al.
European Journal of Medical Genetics
|
March 27, 2013
263.4 kb deletion within the TCF4 gene consistent with Pitt-Hopkins syndrome, inherited from a mosaic parent with normal phenotype
Ludmila Kousoulidou, George Tanteles, Maria Moutafi, et al.
Biomed Research International
|
November 22, 2013
Screening of 50 cypriot patients with autism spectrum disorders or autistic features using 400K custom array-CGH
Ludmila Kousoulidou, Maria Moutafi, Paola Nicolaides, et al.
Clinical Case Reports
|
March 9, 2019
De novo mosaic <i>MECP2</i> mutation in a female with Rett syndrome
Angelos Alexandrou, Ioannis Papaevripidou, Ioanna Maria Alexandrou, et al.
European Journal of Medical Genetics
|
March 1, 2011
21 Mb deletion in chromosome band 13q22.2q32.1 associated with mild/moderate psychomotor retardation, growth hormone insufficiency, short neck, micrognathia, hypotonia, dysplastic ears and other dysmorphic features
Panagiota Grigori, Elena Panayiotou, Carolina Sismani, 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.
Molecular Cytogenetics
|
May 22, 2023
Hereditary multiple exostoses caused by a chromosomal inversion removing part of EXT1 gene
Angelos Alexandrou, Nicole Salameh, Ioannis Papaevripidou, et al.
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of 3