E-LIB Suche - Ergebnisse für: Antoniadi, Thalia

1

Kosaki overgrowth syndrome: A novel pathogenic variant in P..:

Foster, Alison ; Chalot, Basile ; Antoniadi, Thalia...
Clinical Genetics. 98 (2020) 1 - p. 19-31 , 2020

2

De Novo Missense Variants in FBXW11 Cause Diverse Developme..:

Holt, Richard J. ; Young, Rodrigo M. ; Crespo, Berta...
The American Journal of Human Genetics. 105 (2019) 3 - p. 640-657 , 2019

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

3

Charcot Marie Tooth disease type 2S with late onset diaphra..:

Kulshrestha, Richa ; Forrester, Natalie ; Antoniadi, Thalia...
Neuromuscular Disorders. 28 (2018) 12 - p. 1016-1021 , 2018

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

4

Genetic heterogeneity of motor neuropathies:

Bansagi, Boglarka ; Griffin, Helen ; Whittaker, Roger G....
Neurology. 88 (2017) 13 - p. 1226-1234 , 2017

Link: https://doi.org/10.1212/..

5

EMQN best practice guidelines for the molecular genetic tes..:

Eggermann, Katja ; Bliek, Jet ; Brioude, Frédéric...
European Journal of Human Genetics. 24 (2016) 10 - p. 1377-1387 , 2016

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

6

Phenotypic variability of TRPV4 related neuropathies:

Evangelista, Teresinha ; Bansagi, Boglarka ; Pyle, Angela...
Neuromuscular Disorders. 25 (2015) 6 - p. 516-521 , 2015

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

7

Genotype/phenotype correlations in AARS-related neuropathy ..:

Bansagi, Boglarka ; Antoniadi, Thalia ; Burton-Jones, Sarah...
Journal of Neurology. 262 (2015) 8 - p. 1899-1908 , 2015

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

8

Application of targeted multi-gene panel testing for the di..:

Antoniadi, Thalia ; Buxton, Chris ; Dennis, Gemma...
BMC Medical Genetics. 16 (2015) 1 - p. , 2015

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

9

Prenatal diagnosis of achondroplasia presenting with multip..:

Karadimas, Charalampos ; Trouvas, Dimitrios ; Haritatos, George...
Prenatal Diagnosis. 26 (2006) 3 - p. 258-261 , 2006

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

10

Prevalence of GJB2 mutations in prelingual deafness in the ..:

Pampanos, Andreas ; Economides, John ; Iliadou, Vassiliki...
International Journal of Pediatric Otorhinolaryngology. 65 (2002) 2 - p. 101-108 , 2002

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

11

Prenatal diagnosis of prelingual deafness: carrier testing ..:

Antoniadi, Thalia ; Pampanos, Andreas ; Petersen, Michael B.
Prenatal Diagnosis. 21 (2001) 1 - p. 10-13 , 2001

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

12

Prenatal diagnosis of two rare de novo structural aberratio..:

Velissariou, Voula ; Antoniadi, Thalia ; Patsalis, Philippos...
Prenatal Diagnosis. 21 (2001) 6 - p. 484-487 , 2001

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

13

A widely applicable strategy for single cell genotyping of ..:

Vrettou, Christina ; Palmer, Giles ; Kanavakis, Emmanuel...
Prenatal Diagnosis. 19 (1999) 13 - p. 1209-1216 , 1999

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

14

Characterization of more than 85% of cystic fibrosis allele..:

Kanavakis, E. ; Antoniadi, Thalia ; Doudounakis, Stavros...
Human Genetics. 99 (1996) 1 - p. 121-125 , 1996

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

15

Mutation analysis of ten exons of the CFTR gene in Greek cy..:

Kanavakis, Emmanuel ; Tzetis, Maria ; Antoniadi, Thalia...
Human Genetics. 96 (1995) 3 - p. , 1995

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