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1 .
Neonatal ichthyosis–sclerosing cholangitis syndrome: report of a novel mutation and a review of the literature
저자
by
Engin Demir
;
Ceyda Tuna Kirsaçlioğlu
;
İnci Nur Saltik-Temizel
;
Gizem Ürel-Demir
;
Beren Karaosmanoğlu
, et al.
소스
Clinical Dysmorphology
. 32:88-91
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Web of Science
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7 .
Two Siblings with Kaufman Oculocerebrofacial Syndrome Resembling Oculoauriculovertebral Spectrum
저자
by
Gülen Eda Utine
;
Pelin Ozlem Simsek-Kiper
;
Özlem Akgün-Doğan
;
Beren Karaosmanoglu
;
Ekim Z. Taskiran
, et al.
소스
Mol Syndromol
Open Access (OpenAIRE)
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7 .
Further defining the clinical and molecular spectrum of acromesomelic dysplasia type maroteaux: a Turkish tertiary center experience
저자
by
Banu Güzel Nur
;
Gülen Eda Utine
;
Umut Arslan
;
Ekim Z. Taskiran
;
Pelin Ozlem Simsek-Kiper
, et al.
소스
Journal of Human Genetics
. 66:585-596
Web of Science
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7 .
Diagnostic yield of whole-exome sequencing in non-syndromic intellectual disability
저자
by
Ekim Z. Taskiran
;
Mehmet Alikasifoglu
;
Gülen Eda Utine
;
Beren Karaosmanoglu
;
Pelin Ozlem Simsek-Kiper
, et al.
소스
Journal of intellectual disability research : JIDRReferences
. 65(6)
Scopus
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7 .
Natural history of TRPV4-Related disorders: From skeletal dysplasia to neuromuscular phenotype
저자
by
Koray Boduroğlu
;
Gizem Ürel-Demir
;
Pelin Ozlem Simsek-Kiper
;
Goknur Haliloglu
;
Ibrahim Oncel
, et al.
소스
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
. 32
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7 .
Further Phenotypic Delineation of Partial Trisomy 17q and Partial Monosomy 20q due to Rare t(17;20)
저자
by
Sumeyra Oguz
;
Pelin Ozlem Simsek-Kiper
;
Gülen Eda Utine
;
Koray Boduroğlu
;
Naz Güleray-Lafcı
, et al.
소스
Mol Syndromol
Open Access (OpenAIRE)
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7 .
Further delineation of spondyloepimetaphyseal dysplasia Faden‐Alkuraya type: A RSPRY1‐associated spondylo‐epi‐metaphyseal dysplasia with cono‐brachydactyly and craniosynostosis
저자
by
Can Kosukcu
;
Özlem Akgün-Doğan
;
Guney Yilmaz
;
Mehmet Alikasifoglu
;
Gülen Eda Utine
, et al.
소스
American Journal of Medical Genetics Part A
. 176:2009-2016
Web of Science
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7 .
Three new cases of Crisponi /cold induced sweating syndrome (CS/CISS1) in Turkish families
저자
by
Pelin Ozlem Simsek-Kiper
;
Gizem Ürel-Demir
;
Gülen Eda Utine
;
Abdulkerim Kolkiran
.
소스
European Journal of Medical Genetics
. 64:104229
Full Text (Clinical Key)
Web of Science
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6 .
Further expansion of the mutational spectrum of spondylo-meta-epiphyseal dysplasia with abnormal calcification
저자
by
Shiro Ikegawa
;
Özlem Akgün-Doğan
;
Zheng Wang
;
Pelin Ozlem Simsek-Kiper
;
Gülen Eda Utine
, et al.
소스
Journal of human genetics
. 63(9)
Scopus
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7 .
Fragile x-associated premature ovarian failure in a large Turkish cohort: Findings of Hacettepe Fragile X Registry
저자
by
Pelin Ozlem Simsek-Kiper
;
Dilek Aktas
;
Özlem Akgün-Doğan
;
Koray Boduroğlu
;
Gizem Ürel-Demir
, et al.
소스
European journal of obstetrics, gynecology, and reproductive biology
. 221
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