A familial case of Muenke syndrome. Diverse expressivity of the FGFR3 Pro252Arg mutation--case report and review of the literature
Aravidis, Christos, Konialis, Christopher P, Pangalos, Constantinos G, Kosmaidou, Zoi
Published in The journal of maternal-fetal & neonatal medicine (01.09.2014)
Published in The journal of maternal-fetal & neonatal medicine (01.09.2014)
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Birth of a Healthy Histocompatible Sibling following Preimplantation Genetic Diagnosis for Chronic Granulomatous Disease at the Blastocyst Stage Coupled to HLA Typing
Pangalos, Constantinos G., Hagnefelt, Birgitta, Kokkali, Georgia, Pantos, Konstantinos, Konialis, Christopher P.
Published in Fetal diagnosis and therapy (01.01.2008)
Published in Fetal diagnosis and therapy (01.01.2008)
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CFTR ΔF508 Mutation Detection from Dried Blood Samples in the First Trimester of Pregnancy: A Possible Routine Prenatal Screening Strategy for Cystic Fibrosis?
Konialis, Christopher P., Hagnefelt, Birgitta, Kazamia, Constantina, Karapanou, Sophia, Pangalos, Constantinos
Published in Fetal diagnosis and therapy (01.01.2007)
Published in Fetal diagnosis and therapy (01.01.2007)
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Successful Hematopoietic Stem Cell Transplantation in 2 Children with X-Linked Chronic Granulomatous Disease from Their Unaffected HLA-Identical Siblings Selected Using Preimplantation Genetic Diagnosis Combined with HLA Typing
Goussetis, Evgenios, Konialis, Christopher P, Peristeri, Ioulia, Kitra, Vasiliki, Dimopoulou, Maria, Petropoulou, Theoni, Vessalas, George, Papassavas, Andreas, Tzanoudaki, Marianna, Kokkali, Georgia, Petrakou, Eftychia, Spiropoulos, Antonia, Pangalos, Constantinos G, Pantos, Konstantinos, Graphakos, Stelios
Published in Biology of blood and marrow transplantation (01.03.2010)
Published in Biology of blood and marrow transplantation (01.03.2010)
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CFTR DeltaF508 mutation detection from dried blood samples in the first trimester of pregnancy: a possible routine prenatal screening strategy for cystic fibrosis?
Konialis, Christopher P, Hagnefelt, Birgitta, Kazamia, Constantina, Karapanou, Sophia, Pangalos, Constantinos
Published in Fetal diagnosis and therapy (2007)
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Published in Fetal diagnosis and therapy (2007)
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CFTR [Delta]F508 Mutation Detection from Dried Blood Samples in the First Trimester of Pregnancy: A Possible Routine Prenatal Screening Strategy for Cystic Fibrosis?
Konialis, Christopher P, Hagnefelt, Birgitta, Kazamia, Constantina, Karapanou, Sophia, Pangalos, Constantinos
Published in Fetal diagnosis and therapy (01.12.2006)
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Published in Fetal diagnosis and therapy (01.12.2006)
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