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Carolina Sismani

Showing results (1-10 of 68) with videos related to

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International Journal of Molecular Sciences|April 24, 2015
Modulation of the genome and epigenome of individuals susceptible to autism by environmental risk factorsCostas Koufaris, Carolina Sismani
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
Hormones (Athens, Greece)|August 3, 2015
Identification of an AVP-NPII mutation within the AVP moiety in a family with neurohypophyseal diabetes insipidus: review of the literatureCostas Koufaris, Angelos Alexandrou, Carolina Sismani, et al.
European Journal of Human Genetics : EJHG|May 27, 2004
Fluorescence in situ hybridization characterization of apparently balanced translocation reveals cryptic complex chromosomal rearrangements with unexpected level of complexityPhilippos C Patsalis, Paola Evangelidou, Spyros Charalambous, et al.
European Journal of Medical Genetics|September 24, 2005
MAPH: from gels to microarraysPhilippos C Patsalis, Ludmila Kousoulidou, Carolina Sismani, et al.
Biomedical Reports|February 20, 2016
A novel <i>HCFC1</i> variant in male siblings with intellectual disability and microcephaly in the absence of cobalamin disorderCostas Koufaris, Angelos Alexandrou, George A Tanteles, et al.
American Journal of Medical Genetics. Part A|May 27, 2010
Phenotype-genotype correlation of a patient with a "balanced" translocation 9;15 and cryptic 9q34 duplication and 15q21q25 deletionEleftheria Papadopoulou, Carolina Sismani, Christodoulos Christodoulou, 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 phenotypeLudmila Kousoulidou, George Tanteles, Maria Moutafi, et al.
Journal of Genetics|September 24, 2016
Deletion of SNURF/SNRPN U1B and U1B* upstream exons in a child with developmental delay and excessive weightCostas Koufaris, Angelos Alexandrou, Ioannis Papaevripidou, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM|April 9, 2005
Complete androgen insensitivity syndrome caused by the R855H mutation in the androgen receptor geneNicos Skordis, Serge Lumbroso, Maria Perikleous, et al.
Pageof 7

Showing results (1-10 of 68) with videos related to

Sort By:
Pageof 7
International Journal of Molecular Sciences|April 24, 2015
Modulation of the genome and epigenome of individuals susceptible to autism by environmental risk factorsCostas Koufaris, Carolina Sismani
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
Hormones (Athens, Greece)|August 3, 2015
Identification of an AVP-NPII mutation within the AVP moiety in a family with neurohypophyseal diabetes insipidus: review of the literatureCostas Koufaris, Angelos Alexandrou, Carolina Sismani, et al.
European Journal of Human Genetics : EJHG|May 27, 2004
Fluorescence in situ hybridization characterization of apparently balanced translocation reveals cryptic complex chromosomal rearrangements with unexpected level of complexityPhilippos C Patsalis, Paola Evangelidou, Spyros Charalambous, et al.
European Journal of Medical Genetics|September 24, 2005
MAPH: from gels to microarraysPhilippos C Patsalis, Ludmila Kousoulidou, Carolina Sismani, et al.
Biomedical Reports|February 20, 2016
A novel <i>HCFC1</i> variant in male siblings with intellectual disability and microcephaly in the absence of cobalamin disorderCostas Koufaris, Angelos Alexandrou, George A Tanteles, et al.
American Journal of Medical Genetics. Part A|May 27, 2010
Phenotype-genotype correlation of a patient with a "balanced" translocation 9;15 and cryptic 9q34 duplication and 15q21q25 deletionEleftheria Papadopoulou, Carolina Sismani, Christodoulos Christodoulou, 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 phenotypeLudmila Kousoulidou, George Tanteles, Maria Moutafi, et al.
Journal of Genetics|September 24, 2016
Deletion of SNURF/SNRPN U1B and U1B* upstream exons in a child with developmental delay and excessive weightCostas Koufaris, Angelos Alexandrou, Ioannis Papaevripidou, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM|April 9, 2005
Complete androgen insensitivity syndrome caused by the R855H mutation in the androgen receptor geneNicos Skordis, Serge Lumbroso, Maria Perikleous, et al.
Pageof 7