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Manolakos, Emmanouil
95  results:
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1

Prenatal Identification of a Missense Mutation of the L1CAM..:

Sotiriou, Sotirios ; Samara, Athina A ; Anastasakis, Eleftherios...
Cureus.  , 2024
Link: https://doi.org/10.7759/..
 
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2

Prenatal diagnosis of 18p deletion and 8p trisomy syndrome:..:

Papamichail, Maria ; Eleftheriades, Anna ; Manolakos, Emmanouil...
BMC Women's Health.  24 (2024)  1 - p. , 2024
Link: https://doi.org/10.1186/..
 
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3

Prenatal Identification of a Novel Mutation in the MCPH1 Ge..:

Papoulidis, Ioannis ; Eleftheriades, Makarios ; Manolakos, Emmanouil...
Children.  9 (2022)  12 - p. 1879 , 2022
Link: https://doi.org/10.3390/..
 
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4

Partial deletion of chromosome 6p causing developmental del..:

Vrachnis, Nikolaos ; Papoulidis, Ioannis ; Vrachnis, Dionysios...
Molecular Cytogenetics.  14 (2021)  1 - p. , 2021
Link: https://doi.org/10.1186/..
 
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5

The multiple faces of Danon disease:

Ntelios, Dimitrios ; Parcharidou, Despoina ; Zegkos, Thomas...
Hellenic Journal of Cardiology.  62 (2021)  2 - p. 178-179 , 2021
Link: https://doi.org/10.1016/..
 
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6

A novel desmoplakin mutation associated with left dominant ..:

Efthimiadis, Georgios ; Zegkos, Thomas ; Meditskou, Soultana...
Hellenic Journal of Cardiology.  62 (2021)  1 - p. 95-98 , 2021
Link: https://doi.org/10.1016/..
 
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7

A novel heterozygous mutation in the SLC5A2 gene causing se..:

Papadimitriou, Dimitrios T. ; Manolakos, Emmanouil ; Dermitzaki, Eleni...
Journal of Diabetes.  13 (2021)  8 - p. 688-692 , 2021
Link: https://doi.org/10.1111/..
 
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8

Prenatal diagnosis of Baraitser – Winter syndrome using exo..:

Papamichail, Maria ; Manolakos, Emmanouil ; Papoulidis, Ioannis...
European Journal of Medical Genetics.  64 (2021)  11 - p. 104318 , 2021
Link: https://doi.org/10.1016/..
 
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9

MON-072 A 2 -Year Old Girl with Turner Syndrome and Neurofi..:

Papadimitriou, Dimitrios T ; Kleanthous, Kleanthis ; Tagalakis, Panagiotis..
Journal of the Endocrine Society.  4 (2020)  Supplement_1 - p. , 2020
Link: https://doi.org/10.1210/..
 
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10

MON-078 WFS1 Related Disorder in A 4-Month Old Girl:

Papadimitriou, Dimitrios T ; Urano, Fumihiko ; Fretzayas, Andreas...
Journal of the Endocrine Society.  4 (2020)  Supplement_1 - p. , 2020
Link: https://doi.org/10.1210/..
 
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11

SUN-028 Concomitant Mutations in the POR and AR Genes in a ..:

Papadimitriou, Dimitrios T ; Mastorakos, George ; Kleanthous, Kleanthis..
Journal of the Endocrine Society.  4 (2020)  Supplement_1 - p. , 2020
Link: https://doi.org/10.1210/..
 
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12

A novel detrimental homozygous mutation in the WFS1 gene in..:

Papadimitriou, Dimitrios T. ; Kleanthous, Kleanthis ; Manolakos, Emmanouil...
Clinical Case Reports.  7 (2019)  12 - p. 2355-2357 , 2019
Link: https://doi.org/10.1002/..
 
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13

Targeted capture enrichment followed by NGS: development an..:

Koumbaris, George ; Achilleos, Achilleas ; Nicolaou, Michalis...
Molecular Cytogenetics.  12 (2019)  1 - p. , 2019
Link: https://doi.org/10.1186/..
 
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14

Parental origin of deletions and duplications – about the n..:

Liehr, Thomas ; Schreyer, Isolde ; Kuechler, Alma...
Molecular Cytogenetics.  11 (2018)  1 - p. , 2018
Link: https://doi.org/10.1186/..
 
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15

Small supernumerary marker chromosomes: A legacy of trisomy..:

Kurtas, Nehir Edibe ; Xumerle, Luciano ; Leonardelli, Lorena...
Human Mutation.  40 (2018)  2 - p. 193-200 , 2018
Link: https://doi.org/10.1002/..
 
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