Emmanouil Manolakos - Access To Genome (ATG), Athens-Thessaloniki

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Papers共 94 篇Author StatisticsCo-AuthorSimilar Experts

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Novel Familial KDF1 Mutation Detected in Members of a Three-Generation Family with Clinical Manifestations of Ectodermal Dysplasia: A Report of Four Cases

Christina Keramida, Chrisoula Efstathiadou, Elisavet Siomou, Elena Papageorgiou,Efterpi Pavlidou,Sotirios Sotiriou, Antonia Charitou,Makarios Eleftheriades, Georgios Nikas, Panagiotis Anastasopoulos,Emmanouil Manolakos,Ioannis Papoulidis

Biomedical reportsno. 1 (2025): 121-121

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Wiedemann‑Steiner Syndrome in a 2‑year‑old Patient Due to a Rare Nonsense KMT2A Mutation of De Novo Origin: A Case Report

Christina Keramida,Ioannis Papoulidis,Elisavet Siomou, Chrisoula Efstathiadou,Yolanda Gyftodimou,Efterpi Pavlidou,Eleftherios Anastasakis,Antonios Garas,Emmanouil Manolakos

International Journal of Epigeneticsno. 1 (2024)

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Prenatal Diagnosis of 18p Deletion and 8p Trisomy Syndrome: Literature Review and Report of a Novel Case

Maria Papamichail,Anna Eleftheriades,Emmanouil Manolakos,Adamantia Papamichail,Panagiotis Christopoulos,Gwendolin Manegold-Brauer,Makarios Eleftheriades

BMC Women s Health（2024）

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Prenatal Diagnosis of Clinodactyly and Its Association with Genetic Syndromes: A Case Report

Themistoklis Loukopoulos,Athanasios Zikopoulos, Nikolaos Vlassis,Emmanouil Manolakos,Sotirios Sotiriou,Anastasia Vatopoulou,Fani Gkrozou,Anastasios Potiris,Sofoklis Stavros,Charikleia Skentou

CASE REPORTS IN WOMENS HEALTH (2024)

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Prenatal Identification of a Missense Mutation of the L1CAM Gene Associated with Hydrocephalus Using Next-Generation Sequencing

Sotirios Sotiriou,Athina A. Samara,Eleftherios Anastasakis,Athanasios Zikopoulos,Ioannis Papoulidis,Emmanouil Manolakos,Efterpi Pavlidou,Chara Skentou

Cureus (2024)

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An Asymptomatic Male Individual Carrying a 5.72 Mb De Novo Deletion in 8p23.2‑p23.3: A Case Report

Christina Keramida,Ioannis Papoulidis, Efterpi Pappa,Thomas Liehr, Konstantinos Kalmantis,Angeliki Gerede,Efterpi Pavlidou,Michael Bjorn Petersen,Emmanouil Manolakos

Experimental and Therapeutic Medicineno. 6 (2024)

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The Effect of Resolution Level and Targeted Design in the Diagnostic Performance of Prenatal Chromosomal Microarray Analysis

Elena Papageorgiou,Apostolos Athanasiadis,Stiliani Fidani,Ioannis Papoulidis,Emmanouil Manolakos,Elissavet Siomou,Christos Chatzakis,Alexandros Sotiriadis

FETAL DIAGNOSIS AND THERAPYno. 6 (2023): 397-405

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Cat Eye Syndrome: Clinical, Cytogenetics and Familial Findings in a Large Cohort of 43 Patients Highlighting the Importance of Congenital Heart Disease and Inherited Cases

Guillaume Jedraszak,Florence Jobic,Aline Receveur,Frederic Bilan,Brigitte Gilbert-Dussardier,Busa Tiffany,Chantal Missirian,Marjolaine Willems,Sylvie Odent,Josette Lucas,Christele Dubourg,Elise Schaefer,Sophie Scheidecker,James Lespinasse,Alice Goldenberg,Anne-Marie Guerrot,Geraldine Joly-Helas,Pascal Chambon,Cedric Le Caignec,Albert David,Charles Coutton,Veronique Satre,Gaelle Vieville,Florence Amblard,Radu Harbuz,Damien Sanlaville,Marianne Till,Catherine Vincent-Delorme,Cindy Colson,Joris Andrieux,Sophie Naudion,Jerome Toutain,Caroline Rooryck-Thambo,Benedicte de Freminville,Fabienne Prieur,Valerie Cormier Daire,Daniel Amram,Pascale Kleinfinger, Matthias B. Schulze,Gisela Raabe-Meyer,Carolina Courage,Johannes Lemke,Eunice G. Stefanou,Thomaidis Loretta,Manolakos Emmanouil,Sophia Kitsiou Tzeli,Henryka Sodowska,Jasen Anderson,Adayapalam Nandini,Henri Copin,Loic Garcon,Thomas Liehr,Gilles Morin

American Journal of Medical Genetics Part Ano. 4 (2023)

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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

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

Children（2022）

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Growth Hormone Deficiency Due to P.(gln467argfs*64) Mutation in the ARID1B Gene in a Girl with Coffin-Siris Syndrome

Stella Mouskou,Sofia Leka-Emiri,Anastasia Korona,Sotiria Mastroyanni,Emmanouil Manolakos,Ioannis Papoulidis, Nick Sekouris, Adamantios Katerelos, Efstathia Katsarou-Pectasides,Konstantinos Voudris

Molecular Syndromologyno. 5 (2022): 425-432

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