Resultados de procura - Emmanouil Manolakos

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  1. 1
    Prenatal diagnosis of 18p deletion and 8p trisomy syndrome: literature review and report of a novel case

    Prenatal diagnosis of 18p deletion and 8p trisomy syndrome: literature review and report of a novel case por Maria Papamichail, Anna Eleftheriades, Emmanouil Manolakos, Adamantia Papamichail, Panagiotis Christopoulos, Gwendolin Manegold-Brauer, Makarios Eleftheriades

    Publicado 2024-04-01
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  2. 2
    The multiple faces of Danon disease

    The multiple faces of Danon disease por Dimitrios Ntelios, Despoina Parcharidou, Thomas Zegkos, Stylianos Paraskevaidis, Emmanouil Manolakos, Ioannis Papoulidis, Vassilios Vassilikos, Haralampos Karvounis, Georgios Efthimiadis

    Publicado 2021-03-01
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  3. 3
    A novel desmoplakin mutation associated with left dominant arrhythmogenic cardiomyopathy and cutaneous phenotype

    A novel desmoplakin mutation associated with left dominant arrhythmogenic cardiomyopathy and cutaneous phenotype por Georgios Efthimiadis, Thomas Zegkos, Soultana Meditskou, Theodoros Karamitsos, Emmanouil Manolakos, Ioannis Papoulidis, Sandro Orru, C. Cadeddu Dessalvi, Haralambos Karvounis, Despoina Parcharidou

    Publicado 2021-01-01
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  4. 4
    Partial deletion of chromosome 6p causing developmental delay and mild dysmorphisms in a child: molecular and developmental investigation and literature search

    Partial deletion of chromosome 6p causing developmental delay and mild dysmorphisms in a child: molecular and developmental investigation and literature search por Nikolaos Vrachnis, Ioannis Papoulidis, Dionysios Vrachnis, Elisavet Siomou, Nikolaos Antonakopoulos, Stavroula Oikonomou, Dimitrios Zygouris, Nikolaos Loukas, Zoi Iliodromiti, Efterpi Pavlidou, Loretta Thomaidis, Emmanouil Manolakos

    Publicado 2021-07-01
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  5. 5
    A novel detrimental homozygous mutation in the WFS1 gene in two sisters from nonconsanguineous parents with untreated diabetes insipidus

    A novel detrimental homozygous mutation in the WFS1 gene in two sisters from nonconsanguineous parents with untreated diabetes insipidus por Dimitrios T. Papadimitriou, Kleanthis Kleanthous, Emmanouil Manolakos, Anatoly Tiulpakov, Thomas Nikolopoulos, Alexandros Delides, Gerasimos Voros, Argyrios Dinopoulos, George Zoupanos, Anastasios Papadimitriou, Georgios Mastorakos, Fumihiko Urano

    Publicado 2019-12-01
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  6. 6
    Prenatal Identification of a Novel Mutation in the <i>MCPH1</i> Gene Associated with Autosomal Recessive Primary Microcephaly (MCPH) Using Next Generation Sequencing (NGS): A Case Report and Review of the Literature

    Prenatal Identification of a Novel Mutation in the <i>MCPH1</i> Gene Associated with Autosomal Recessive Primary Microcephaly (MCPH) Using Next Generation Sequencing (NGS): A Case... por Ioannis Papoulidis, Makarios Eleftheriades, Emmanouil Manolakos, Michael B. Petersen, Simoni Marina Liappi, Anastasia Konstantinidou, Maria Papamichail, Vassilios Papadopoulos, Antonios Garas, Sotirios Sotiriou, Ioannis Papastefanou, Georgios Daskalakis, Aleksandar Ristic

    Publicado 2022-11-01
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  7. 7
    Targeted capture enrichment followed by NGS: development and validation of a single comprehensive NIPT for chromosomal aneuploidies, microdeletion syndromes and monogenic diseases

    Targeted capture enrichment followed by NGS: development and validation of a single comprehensive NIPT for chromosomal aneuploidies, microdeletion syndromes and monogenic diseases por George Koumbaris, Achilleas Achilleos, Michalis Nicolaou, Charalambos Loizides, Kyriakos Tsangaras, Elena Kypri, Petros Mina, Carolina Sismani, Voula Velissariou, Georgia Christopoulou, Pantelis Constantoulakis, Emmanouil Manolakos, Ioannis Papoulidis, Danai Stambouli, Marios Ioannides, Philippos Patsalis

    Publicado 2019-11-01
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  8. 8
    Parental origin of deletions and duplications – about the necessity to check for cryptic inversions

    Parental origin of deletions and duplications – about the necessity to check for cryptic inversions por Thomas Liehr, Isolde Schreyer, Alma Kuechler, Emmanouil Manolakos, Sylke Singer, Andreas Dufke, Kathleen Wilhelm, Tereza Jančušková, Radek Čmejla, Moneeb A. K. Othman, Ahmed H. Al-Rikabi, Kristin Mrasek, Monika Ziegler, Stefanie Kankel, Katharina Kreskowski, Anja Weise

    Publicado 2018-03-01
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