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1 . Academic Journal
Severe microcephaly and rapid deterioration due to cortical atrophy in early infancy: Consider TRAPPC4 trappopathy
저자
by
Akgun Olmez
;
Selcan Zeybek
.
소스
Annals of Indian Academy of Neurology, Vol 25, Iss 4, Pp 735-738 (2022)
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4 .
Shared Biological Pathways and Processes in Patients with Intellectual Disability: A Multicenter Study
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by
Çağatay Günay
;
Duygu Aykol
;
Özlem Özsoy
;
Ece Sönmezler
;
Yaren Sena Hanci
, et al.
소스
Neuropediatrics
.
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7 .
Dicentric Recombinant Chromosome 18 due to Maternal Paracentric Inversion Analyzed by Array CGH
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by
Özlem Anlaş
;
Akgün Ölmez
;
Birsen Karaman
;
Füsun Düzcan
;
Selçuk Yüksel
, et al.
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7 .
Early onset disease, anarthria, areflexia, and dystonia can be the distinctive features of SPG64, a very rare form of hereditary spastic paraplegias
저자
by
Akgün Ölmez
;
Gökhan Ozan Çetin
;
Kadri Karaer
.
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5 .
Severe Microcephaly and Rapid Deterioration Due to Cortical Atrophy in Early Infancy: Consider TRAPPC4 Trappopathy
저자
by
Akgun Olmez
;
Selcan Zeybek
.
소스
Annals of Indian Academy of Neurology
. 25(4)
Open Access (OpenAIRE)
Scopus
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4 .
Hereditary spastic paraplegia
저자
by
Haluk Topaloglu
;
Akgun Olmez
.
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NATIONAL JOURNAL OF NEUROLOGY
. :1-6
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4 .
Hereditary spastic paraplegia:Pathogenesis and pathophysiology
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by
Haluk Topaloglu
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Akgun Olmez
.
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NATIONAL JOURNAL OF NEUROLOGY
. :1-13
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4 .
Genotype-phenotype correlation in seven motor neuron disease families with novel ALS2 mutations
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by
Gökhan Uyanik
;
Kerstin Becker
;
Peter Nürnberg
;
Hülya-Sevcan Daimagüler
;
Akgun Olmez
, et al.
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7 .
Analysis of centrosome and DNA damage response in PLK4 associated Seckel syndrome
저자
by
Tuba Dinçer
;
Nurten A. Akarsu
;
Bayram Toraman
;
İdris Er
;
Yavuz Dodurga
, et al.
소스
European Journal of Human Genetics
. 25:1118-1125
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7 .
Novel splice-site and missense mutations in theALDH1A3gene underlying autosomal recessive anophthalmia/microphthalmia
저자
by
Cem Yildirim
;
Ersan Kalay
;
Nurten A. Akarsu
;
C. Nur Semerci
;
Akgün Ölmez
, et al.
소스
British Journal of Ophthalmology
. 98:832-840
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