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

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论文共 88 篇作者统计合作学者相似作者

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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 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

Curēus (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): 241-241

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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,

AMERICAN JOURNAL OF MEDICAL GENETICS PART Ano. 4 (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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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,

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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Novel Hemizygous Missense Variant of Spermine Synthase (SMS) Gene Causes Snyder-Robinson Syndrome in a Four-Year-Old Boy

Stella Mouskou, Adamantios Katerelos,Artemis Doulgeraki,Sofia Leka-Emiri,Emmanouil Manolakos,Ioannis Papoulidis,Athina Ververi,Georgios Vartzelis,Anastasia Korona,Sotiria Mastroyanni,Konstantinos Voudris

MOLECULAR SYNDROMOLOGY（2021）

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A Novel Heterozygous Mutation in the SLC5A2 Gene Causing Severe Glycosuria, Mild Failure to Thrive, and Subclinical Hypoglycemia

Dimitrios T Papadimitriou,Emmanouil Manolakos,Eleni Dermitzaki,Fotini Filiousi,Ioannis Papoulidis, Georges Zoupanos,Aldesia Provenzano,George Mastorakos

Journal of diabetesno. 8 (2021): 688-692

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The Multiple Faces Of Danon Disease

Dimitrios Ntelios,Despoina Parcharidou,Thomas Zegkos,Stylianos Paraskevaidis,Emmanouil Manolakos,Ioannis Papoulidis,Vassilios Vassilikos,Haralampos Karvounis,G. Efthimiadis

HELLENIC JOURNAL OF CARDIOLOGYno. 2 (2021): 178-179

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