E-LIB Suche - Ergebnisse für: Gyftodimou, Yolanda

1

CHD2 pathogenic nonsense variant in a three-generation fami..:

Angelopoulou, Eleni ; Theodosiou, Athina ; Papaevripidou, Ioannis...
Heliyon. 9 (2023) 12 - p. e22987 , 2023

Link: https://doi.org/10.1016/..

2

Loss-of-function HDAC8 mutations cause a phenotypic spectru..:

Kaiser, Frank J. ; Ansari, Morad ; Braunholz, Diana...
Human Molecular Genetics. 23 (2014) 11 - p. 2888-2900 , 2014

Link: https://doi.org/10.1093/..

3

De novo 393kb microdeletion of 7p11.2 characterized by aCGH..:

Varvagiannis, Konstantinos ; Papoulidis, Ioannis ; Koromila, Theodora...
Meta Gene. 2 (2014) - p. 274-282 , 2014

Link: https://doi.org/10.1016/..

4

Helical mutations in type I collagen that affect the proces..:

Malfait, Fransiska ; Symoens, Sofie ; Goemans, Nathalie...
Orphanet Journal of Rare Diseases. 8 (2013) 1 - p. 78 , 2013

Link: https://doi.org/10.1186/..

5

Pure de novo partial trisomy 6p in a girl with craniosynost..:

Varvagiannis, Konstantinos ; Stefanidou, Amalia ; Gyftodimou, Yolanda...
American Journal of Medical Genetics Part A. 161 (2013) 2 - p. 343-351 , 2013

Link: https://doi.org/10.1002/..

6

A 725 kb deletion at 22q13.1 chromosomal region including S..:

Siomou, Elisavet ; Manolakos, Emmanouil ; Petersen, Michael...
European Journal of Medical Genetics. 55 (2012) 11 - p. 641-645 , 2012

Link: https://doi.org/10.1016/..

7

HDAC8 mutations in Cornelia de Lange syndrome affect the co..:

Deardorff, Matthew A. ; Bando, Masashige ; Nakato, Ryuichiro...
Nature. 489 (2012) 7415 - p. 313-317 , 2012

Link: https://doi.org/10.1038/..

8

Congenital hypothyroidism as the initial presentation that ..:

Dimitriadou, Meropi ; Christoforidis, Athanasios ; Sarri, Catherine..
Gene. 494 (2012) 1 - p. 102-104 , 2012

Link: https://doi.org/10.1016/..

9

Homoplasmy of the G7444A mtDNA and heterozygosity of the GJ..:

Kokotas, Haris ; Grigoriadou, Maria ; Yang, Li...
International Journal of Pediatric Otorhinolaryngology. 75 (2011) 1 - p. 89-94 , 2011

Link: https://doi.org/10.1016/..

10

Complex distal 10q rearrangement in a girl with mild intell..:

Sarri, Catherine ; Douzgou, Sofia ; Gyftodimou, Yolanda...
American Journal of Medical Genetics Part A. 155 (2011) 11 - p. 2841-2854 , 2011

Link: https://doi.org/10.1002/..

11

Cohen syndrome resulting from a novel large intragenic COH1..:

Bugiani, Marianna ; Gyftodimou, Yolanda ; Tsimpouka, Paraskevi...
American Journal of Medical Genetics Part A. 146A (2008) 17 - p. 2221-2226 , 2008

Link: https://doi.org/10.1002/..

12

Wolf–Hirschhorn syndrome-associated chromosome changes are ..:

Zollino, Marcella ; Lecce, Rosetta ; Murdolo, Marina...
Human Genetics. 123 (2008) 3 - p. 319-319 , 2008

Link: https://doi.org/10.1007/..

13

Wolf–Hirschhorn syndrome-associated chromosome changes are ..:

Zollino, Marcella ; Lecce, Rosetta ; Murdolo, Marina...
Human Genetics. 122 (2007) 5 - p. 423-430 , 2007

Link: https://doi.org/10.1007/..

14

Prenatal diagnosis of glycogen storage disease type IV:

Akman, H. Orhan ; Karadimas, Charalampos ; Gyftodimou, Yolanda...
Prenatal Diagnosis. 26 (2006) 10 - p. 951-955 , 2006

Link: https://doi.org/10.1002/..

15

CHD2 pathogenic nonsense variant in a three-generation fami..:

Angelopoulou, Eleni ; Theodosiou, Athina ; Papaevripidou, Ioannis...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10731059/. , 2023

Link: http://www.ncbi.nlm.nih...