Mutational analysis for biotinidase deficiency of a Greek patients' cohort ascertained through expanded newborn screening
Thodi, Georgia, Molou, Elina, Georgiou, Vassiliki, Loukas, Yannis L, Dotsikas, Yannis, Biti, Sofia, Papadopoulos, Konstantinos, Konstantinou, Dimitris, Antoniadi, Marina, Doulgerakis, Emmanuel
Published in Journal of human genetics (01.12.2011)
Published in Journal of human genetics (01.12.2011)
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Journal Article
A simplified metabolomic analysis of dried blood spots in breast cancer patients
Thodi, Georgia, Triantopoulou, Aikaterini, Iliou, Aikaterini, Molou, Elina, Dotsikas, Yannis, Loukas, Yannis L
Published in Scandinavian journal of clinical and laboratory investigation (03.09.2024)
Published in Scandinavian journal of clinical and laboratory investigation (03.09.2024)
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Journal Article
Perinatal Reduced Blood Concentrations of Free Carnitine and Acylcarnitines in Infants with Cystic Fibrosis
Schulpis, Kleopatra H, Molou, Elina, Manta-Vogli, Penelope, Dotsikas, Yannis, Thodi, Georgia, Chatzidaki, Maria, Loukas, Yannis L
Published in American journal of perinatology (01.07.2021)
Published in American journal of perinatology (01.07.2021)
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Journal Article
Study of the effect of CYP2C19 polymorphisms on omeprazole pharmacokinetics by utilizing validated LC–MS/MS and Real Time-PCR methods
Koukoula, Maria, Dotsikas, Yannis, Molou, Elina, Schulpis, Kleopatra H., Thodi, Georgia, Chatzidaki, Maria, Triantafylli, Olga, Loukas, Yannis L.
Published in Journal of chromatography. B, Analytical technologies in the biomedical and life sciences (15.03.2017)
Published in Journal of chromatography. B, Analytical technologies in the biomedical and life sciences (15.03.2017)
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Journal Article
High incidence of partial biotinidase deficiency cases in newborns of Greek origin
Thodi, Georgia, Schulpis, Kleopatra H., Molou, Elina, Georgiou, Vassiliki, Loukas, Yannis L., Dotsikas, Yannis, Papadopoulos, Konstantinos, Biti, Sofia
Published in Gene (25.07.2013)
Published in Gene (25.07.2013)
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Journal Article
Mutational analysis of GALT gene in Greek patients with galactosaemia: identification of two novel mutations and clinical evaluation
Schulpis, Kleopatra H., Thodi, Georgia, Iakovou, Konstantinos, Chatzidaki, Maria, Dotsikas, Yannis, Molou, Elina, Triantafylli, Olga, Loukas, Yannis L.
Published in Scandinavian journal of clinical and laboratory investigation (18.08.2017)
Published in Scandinavian journal of clinical and laboratory investigation (18.08.2017)
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Journal Article
Clinical diagnostic Next-Generation sequencing: The case of CFTR carrier screening
Loukas, Yannis L., Thodi, Georgia, Molou, Elina, Georgiou, Vassiliki, Dotsikas, Yannis, Schulpis, Kleopatra H.
Published in Scandinavian journal of clinical and laboratory investigation (01.09.2015)
Published in Scandinavian journal of clinical and laboratory investigation (01.09.2015)
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Journal Article
Clinical evaluation and mutational analysis of GALK and GALE genes in patients with galactosemia in Greece: one novel mutation and two rare cases
Schulpis, Kleopatra H., Thodi, Georgia, Iakovou, Konstantinos, Chatzidaki, Maria, Dotsikas, Yannis, Molou, Elina, Triantafylli, Olga, Loukas, Yannis L.
Published in Journal of Pediatric Endocrinology & Metabolism (26.07.2017)
Published in Journal of Pediatric Endocrinology & Metabolism (26.07.2017)
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Journal Article
Rare cases of galactose metabolic disorders: identification of more than two mutations per patient
Schulpis, Kleopatra H., Thodi, Georgia, Chatzidaki, Maria, Iakovou, Konstantinos, Molou, Elina, Dotsikas, Yannis, Loukas, Yannis L.
Published in Journal of Pediatric Endocrinology & Metabolism (26.10.2017)
Published in Journal of Pediatric Endocrinology & Metabolism (26.10.2017)
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Journal Article
Hawkinsinuria in two unrelated Greek newborns: identification of a novel variant, biochemical findings and treatment
Thodi, Georgia, Schulpis, Kleopatra H., Dotsikas, Yannis, Pavlides, Christiane, Molou, Elina, Chatzidaki, Maria, Triantafylli, Olga, Loukas, Yannis L.
Published in Journal of Pediatric Endocrinology & Metabolism (01.01.2016)
Published in Journal of Pediatric Endocrinology & Metabolism (01.01.2016)
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Journal Article
Expanded newborn screening in Greece: 30 months of experience
Loukas, Yannis L., Soumelas, Georgios-Stefanos, Dotsikas, Yannis, Georgiou, Vassiliki, Molou, Elina, Thodi, Georgia, Boutsini, Maria, Biti, Sofia, Papadopoulos, Konstantinos
Published in Journal of inherited metabolic disease (01.12.2010)
Published in Journal of inherited metabolic disease (01.12.2010)
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Journal Article
Partial biotinidase deficiency: identification of a single novel mutation (p.H314R) in a Greek newborn
Thodi, Georgia, Schulpis, Kleopatra H., Hatzidaki, Maria, Molou, Elina, Triantafylli, Olga, Dotsikas, Yannis, Loukas, Yannis L.
Published in Journal of Pediatric Endocrinology & Metabolism (01.03.2016)
Published in Journal of Pediatric Endocrinology & Metabolism (01.03.2016)
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Journal Article
Characterization of the molecular spectrum of Medium-Chain Acyl-CoA Dehydrogenase Deficiency in a Greek newborns cohort: Identification of a novel variant
Thodi, Georgia, Georgiou, Vassiliki, Molou, Elina, Loukas, Yannis L., Dotsikas, Yannis, Biti, Sofia, Papadopoulos, Konstantinos, Doulgerakis, Emmanuel
Published in Clinical biochemistry (01.10.2012)
Published in Clinical biochemistry (01.10.2012)
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Journal Article
Early screening of FTO and MC4R variants in newborns of Greek origin
Molou, Elina, Schulpis, Kleopatra H., Birbilis, Christos, Thodi, Georgia, Georgiou, Vassiliki, Dotsikas, Yannis, Loukas, Yannis L.
Published in Journal of Pediatric Endocrinology & Metabolism (01.05.2015)
Published in Journal of Pediatric Endocrinology & Metabolism (01.05.2015)
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Journal Article
Glucose-6-Phosphate Dehydrogenase (G6PD) deficiency in Greek newborns: The Mediterranean C563T mutation screening
Molou, Elina, Schulpis, Kleopatra H., Thodi, Georgia, Georgiou, Vassiliki, Dotsikas, Yannis, Papadopoulos, Konstantinos, Biti, Sofia, Loukas, Yannis L.
Published in Scandinavian journal of clinical and laboratory investigation (01.04.2014)
Published in Scandinavian journal of clinical and laboratory investigation (01.04.2014)
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Journal Article
Clinical evaluation and mutational analysis of GALK and GALE genes in patients with galactosemia in Greece: one novel mutation and two rare cases
Schulpis, Kleopatra H, Thodi, Georgia, Iakovou, Konstantinos, Chatzidaki, Maria, Dotsikas, Yannis, Molou, Elina, Triantafylli, Olga, Loukas, Yannis L
Published in Journal of pediatric endocrinology & metabolism : JPEM (24.06.2017)
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Published in Journal of pediatric endocrinology & metabolism : JPEM (24.06.2017)
Journal Article
Erratum to: Expanded newborn screening in Greece: 30 months of experience
Loukas, Yannis L., Soumelas, Georgios-Stefanos, Dotsikas, Yannis, Georgiou, Vassiliki, Molou, Elina, Thodi, Georgia, Boutsini, Maria, Biti, Sofia, Papadopoulos, Konstantinos
Published in Journal of inherited metabolic disease (01.07.2013)
Published in Journal of inherited metabolic disease (01.07.2013)
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Journal Article