Autori: Eleftheriades Makarios
Naslov | Prenatal Identification of a Novel Mutation in the MCPH1 Gene Associated with Autosomal Recessive Primary Microcephaly (MCPH) Using Next Generation Sequencing (NGS): A Case Report and Review of the Literature (Review) |
Autori | Papoulidis Ioannis Eleftheriades Makarios Manolakos Emmanouil Petersen Michael B Liappi Simoni Marina Konstantinidou Anastasia Papamichail Maria Papadopoulos Vassilios Garas Antonios Sotiriou Sotirios Papastefanou Ioannis Daskalakis Georgios Ristic Aleksandar J |
Info | CHILDREN-BASEL, (2022), vol. 9 br. 12, str. - |
Ispravka | Web of Science Članak Elečas Rang časopisa Citati: Web of Science |
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Naslov | New Compound Heterozygous Splice Site Mutations of the Skeletal Muscle Ryanodine Receptor (RYR1) Gene Manifest Fetal Akinesia: A Linkage with Congenital Myopathies (Article) |
Autori | Zecevic Nebojsa Arsenijevic Vladimir Manolakos Emmanouil Papoulidis Ioannis Theocharis Georgios Sartsidis Anastasios Tryfon Tsagas Tryfon Tziotis Ioannis Dagklis Themistoklis Kalogeros Georgios Tsakiridis Ioannis Filipovic-Stankovic Milica Eleftheriades Makarios |
Info | MOLECULAR SYNDROMOLOGY, (2020), vol. 11 br. 2, str. 104-109 |
Ispravka | Web of Science Članak Elečas Rang časopisa Citati: Web of Science Scopus |
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