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Utine, E.
75
results:
Search for persons
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Format
Online (75)
Mediatypes
Articles (Online) (22)
OpenAccess-fulltext (53)
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english (64)
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1
Arthrogryposis multiplex congenita (AMC): Spectrum and clas..:
Oncel, I.
;
Haliloglu, G.
;
Utine, E.
...
Neuromuscular Disorders. 26 (2016) - p. S107 , 2016
Link:
https://doi.org/10.1016/..
?
2
G.P.24:
Batu, E.
;
Pehlivanturk, M.
;
Haliloglu, G.
...
Neuromuscular Disorders. 24 (2014) 9-10 - p. 801 , 2014
Link:
https://doi.org/10.1016/..
?
3
A multidisciplinary approach to the management of individua..:
Alanay, Y.
;
Ünal, F.
;
Turanlı, G.
...
Journal of Intellectual Disability Research. 51 (2007) 2 - p. 151-161 , 2007
Link:
https://doi.org/10.1111/..
?
4
Café noir spots: a feature of familial progressive hyper‐ a..:
Gülseren, D.
;
Güleray, N.
;
Akgün‐Doğan, Ö.
...
Journal of the European Academy of Dermatology and Venereology. 34 (2019) 2 - p. , 2019
Link:
https://doi.org/10.1111/..
?
5
Efficacy of flecainide in bidirectional ventricular tachyca..:
Ünal Yüksekgönül, Ayşe
;
Azak, Emine
;
Akalın, Akçahan
...
European Journal of Medical Genetics. 65 (2022) 6 - p. 104499 , 2022
Link:
https://doi.org/10.1016/..
?
6
Diagnostic yield of microarrays in individuals with non‐syn..:
Oğuz, S.
;
Arslan, U. E.
;
Kiper, P. Ö. Ş.
...
Journal of Intellectual Disability Research. 65 (2021) 12 - p. 1033-1048 , 2021
Link:
https://doi.org/10.1111/..
?
7
More than meets the eye: Expanding and reviewing the clinic..:
Dhooge, Tibbe
;
Van Damme, Tim
;
Syx, Delfien
...
Human Mutation. 42 (2021) 6 - p. 711-730 , 2021
Link:
https://doi.org/10.1002/..
?
8
Diagnostic yield of whole‐exome sequencing in non‐syndromic..:
Taşkıran, E. Z.
;
Karaosmanoğlu, B.
;
Koşukcu, C.
...
Journal of Intellectual Disability Research. 65 (2021) 6 - p. 577-588 , 2021
Link:
https://doi.org/10.1111/..
?
9
Genetic IGF1R defects: new cases expand the spectrum of cli..:
Gonc, E. N.
;
Ozon, Z. A.
;
Oguz, S.
...
Journal of Endocrinological Investigation. 43 (2020) 12 - p. 1739-1748 , 2020
Link:
https://doi.org/10.1007/..
?
10
ADA2 deficiency in a patient with Noonan syndrome‐like diso..:
Akgun‐Dogan, Ozlem
;
Simsek‐Kiper, Pelin O.
;
Taskiran, Ekim
...
American Journal of Medical Genetics Part A. 179 (2019) 12 - p. 2474-2480 , 2019
Link:
https://doi.org/10.1002/..
?
11
An eight‐case 1q21 region series: novel aberrations and cli..:
Ceylan, A. C.
;
Sahin, I.
;
Erdem, H. B.
...
Journal of Intellectual Disability Research. 63 (2019) 6 - p. 548-557 , 2019
Link:
https://doi.org/10.1111/..
?
12
Further delineation of spondyloepimetaphyseal dysplasia Fad..:
Simsek‐Kiper, Pelin O.
;
Taskiran, Ekim Z.
;
Kosukcu, Can
...
American Journal of Medical Genetics Part A. 176 (2018) 9 - p. 2009-2016 , 2018
Link:
https://doi.org/10.1002/..
?
13
P193 – 2860: Many faces of Rett syndrome: Is there still a ..:
Utine, G.E.
;
Akkus, P.Z.
;
Boduroglu, K.
.
European Journal of Paediatric Neurology. 19 (2015) - p. S148 , 2015
Link:
https://doi.org/10.1016/..
?
14
Neurochemical evaluation of brain function with 1H magnetic..:
Utine, G.E.
;
Akpınar, B.
;
Arslan, U.
...
American Journal of Medical Genetics Part A. 164 (2013) 1 - p. 99-105 , 2013
Link:
https://doi.org/10.1002/..
?
15
Meiotic errors followed by two parallel postzygotic trisomy..:
Robberecht, Caroline
;
Voet, Thierry
;
Utine, Gülen E
...
Molecular Cytogenetics. 5 (2012) 1 - p. , 2012
Link:
https://doi.org/10.1186/..
1-15