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1 .
MIRAGE syndrome in a 10-year-old girl with a novel Lys1024Glu missense variant in SAMD9
저자
by
Tayfun Cinleti
;
Ali Gülen
;
Beria Sönmez
;
Semra Gürsoy
;
Özge Kangalli Boyacioğlu
, et al.
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7 .
DPAGT1-CDG: Report of Two New Pediatric Patients and Brief Review of the Literature
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by
Özlem Özsoy
;
Tayfun Cinleti
;
Çağatay Günay
;
Gamze Sarıkaya Uzan
;
Mehmet Can Yeşilmen
, et al.
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7 .
Blended Phenotype of Pelger-Huet Anomaly with Osteochondroma and Autosomal Recessive Deafness with Enlarged Vestibular Aqueduct
저자
by
Tayfun Cinleti
;
Ceren Yılmaz Uzman
;
Şefika Akyol
;
Özlem Tüfekçi
;
Murat Derya Erçal
, et al.
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Mol Syndromol
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7 .
De novo ARF3 variants cause neurodevelopmental disorder with brain abnormality
저자
by
Kazuhiro Ogata
;
Naomi Tsuchida
;
Mizue Iai
;
Kazunori Sasaki
;
Atsushi Fujita
, et al.
소스
Human Molecular Genetics
. 31:69-81
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7 .
Hemoglobin A(1C) can differentiate subjects with GCK mutations among patients suspected to have MODY
저자
by
Ceren Yılmaz Uzman
;
İbrahim Mert Erbaş
;
Özlem Giray Bozkaya
;
Ahu Paketçi
;
Ahmet Okay Çağlayan
, et al.
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7 .
Late onset Bartter syndrome: Bartter syndrome type 2 presenting with isolated nephrocalcinosis and high parathyroid hormone levels mimicking primary hyperparathyroidism
저자
by
Gizem Yıldız
;
Meral Torun Bayram
;
Tayfun Çinleti
;
Altuğ Koç
;
Alper Soylu
, et al.
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7 .
Genetic and clinical landscape of childhood cerebellar hypoplasia and atrophy
저자
by
Masamune Sakamoto
;
Kazuhiro Iwama
;
Masayuki Sasaki
;
Akihiko Ishiyama
;
Hirofumi Komaki
, et al.
소스
Genetics in medicine : official journal of the American College of Medical Genetics
. 24(12)
Full Text (ScienceDirect)
Scopus
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7 .
Autoimmune/autoinflammatory syndrome induced by adjuvants after multi-component meningococcal serogroup B vaccination in a 7-year-old girl: a case report
저자
by
Özge Atay
;
Suna Asilsoy
;
Gizem Atakul
;
Serdar Al
;
Özge Kangallı Boyacıoğlu
, et al.
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7 .
Is Mean Platelet Volume a Useful Noninvasive Biomarker for Inflammatory Bowel Disease in Childhood?
저자
by
Özlem Bağ
;
Çiğdem Ecevit
;
Tayfun Çinleti
.
소스
The Journal of Medical Sciences
. 6:4-7
Open Access (OpenAIRE)
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5 .
Initial Next-Generation Sequencing (NGS) Results of Alport Syndrome
저자
by
Gizem Yıldız
;
Tayfun Cinleti
;
Ayfer Ülgenalp
;
Altuğ Koç
;
Özlem Giray Bozkaya
, et al.
소스
Volume: 3, Issue: 3 165-169
Journal of Basic and Clinical Health Sciences
Open Access (OpenAIRE)
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