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Periklis Makrythanasis

Showing results (11-20 of 88) with videos related to

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The Lancet. Respiratory Medicine|June 17, 2024
Biological and therapeutic implications of the cancer-related germline mutation landscape in lung cancerEmmanouil Panagiotou, Ioannis A Vathiotis, Periklis Makrythanasis, et al.
BMC Medical Genetics|December 18, 2014
Recessive thrombocytopenia likely due to a homozygous pathogenic variant in the FYB gene: case reportHanan Hamamy, Periklis Makrythanasis, Nasir Al-Allawi, et al.
Best Practice & Research. Clinical Obstetrics & Gynaecology|January 30, 2026
The genetic background of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: A systematic reviewPanagiotis Christopoulos, Ermioni Tsarna, Vasiliki Palamouti, et al.
Blood Cells, Molecules & Diseases|August 6, 2009
Soluble endothelial adhesion molecules and inflammation markers in patients with beta-thalassemia intermediaIno Kanavaki, Periklis Makrythanasis, Christina Lazaropoulou, et al.
Human Mutation|May 28, 2014
A novel homozygous mutation in FGFR3 causes tall stature, severe lateral tibial deviation, scoliosis, hearing impairment, camptodactyly, and arachnodactylyPeriklis Makrythanasis, Samia Temtamy, Mona S Aglan, et al.
Clinical Biochemistry|September 15, 2009
Development of novel microarray methodology for the study of mutations in the SERPINA1 and ADRB2 genes--their association with Obstructive Pulmonary Disease and Disseminated Bronchiectasis in Greek patientsAthanasios Papatheodorou, Periklis Makrythanasis, Marios Kaliakatsos, et al.
European Journal of Clinical Investigation|May 28, 2011
Adhesion molecules and high-sensitivity C-reactive protein levels in patients with sickle cell beta-thalassaemiaIno Kanavaki, Periklis Makrythanasis, Christina Lazaropoulou, et al.
European Journal of Medical Genetics|November 15, 2011
Homozygous deletion of a gene-free region of 4p15 in a child with multiple anomalies: could biallelic loss of conserved, non-coding elements lead to a phenotype?Periklis Makrythanasis, Stefania Gimelli, Frédérique Béna, et al.
Genome Research|January 7, 2014
Simultaneous identification and prioritization of variants in familial, de novo, and somatic genetic disorders with VariantMasterFederico A Santoni, Periklis Makrythanasis, Sergey Nikolaev, et al.
Molecular Cytogenetics|June 21, 2014
Next generation diagnostics on cardiomyopathyJean-Louis Blouin, Jeremy Bevillard, Periklis Makrythanasis, et al.
Pageof 9

Showing results (11-20 of 88) with videos related to

Sort By:
Pageof 9
The Lancet. Respiratory Medicine|June 17, 2024
Biological and therapeutic implications of the cancer-related germline mutation landscape in lung cancerEmmanouil Panagiotou, Ioannis A Vathiotis, Periklis Makrythanasis, et al.
BMC Medical Genetics|December 18, 2014
Recessive thrombocytopenia likely due to a homozygous pathogenic variant in the FYB gene: case reportHanan Hamamy, Periklis Makrythanasis, Nasir Al-Allawi, et al.
Best Practice & Research. Clinical Obstetrics & Gynaecology|January 30, 2026
The genetic background of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: A systematic reviewPanagiotis Christopoulos, Ermioni Tsarna, Vasiliki Palamouti, et al.
Blood Cells, Molecules & Diseases|August 6, 2009
Soluble endothelial adhesion molecules and inflammation markers in patients with beta-thalassemia intermediaIno Kanavaki, Periklis Makrythanasis, Christina Lazaropoulou, et al.
Human Mutation|May 28, 2014
A novel homozygous mutation in FGFR3 causes tall stature, severe lateral tibial deviation, scoliosis, hearing impairment, camptodactyly, and arachnodactylyPeriklis Makrythanasis, Samia Temtamy, Mona S Aglan, et al.
Clinical Biochemistry|September 15, 2009
Development of novel microarray methodology for the study of mutations in the SERPINA1 and ADRB2 genes--their association with Obstructive Pulmonary Disease and Disseminated Bronchiectasis in Greek patientsAthanasios Papatheodorou, Periklis Makrythanasis, Marios Kaliakatsos, et al.
European Journal of Clinical Investigation|May 28, 2011
Adhesion molecules and high-sensitivity C-reactive protein levels in patients with sickle cell beta-thalassaemiaIno Kanavaki, Periklis Makrythanasis, Christina Lazaropoulou, et al.
European Journal of Medical Genetics|November 15, 2011
Homozygous deletion of a gene-free region of 4p15 in a child with multiple anomalies: could biallelic loss of conserved, non-coding elements lead to a phenotype?Periklis Makrythanasis, Stefania Gimelli, Frédérique Béna, et al.
Genome Research|January 7, 2014
Simultaneous identification and prioritization of variants in familial, de novo, and somatic genetic disorders with VariantMasterFederico A Santoni, Periklis Makrythanasis, Sergey Nikolaev, et al.
Molecular Cytogenetics|June 21, 2014
Next generation diagnostics on cardiomyopathyJean-Louis Blouin, Jeremy Bevillard, Periklis Makrythanasis, et al.
Pageof 9