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1 .
Novel dominant and recessive variants in human ROBO1 cause distinct neurodevelopmental defects through different mechanisms
저자
by
Yan Huang
;
Mengqi Ma
;
Xiao Mao
;
Davut Pehlivan
;
Oguz Kanca
, et al.
소스
Hum Mol Genet
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7 . Academic Journal
Assessment of cardiac function in absence of congenital and acquired heart disease in patients with Down syndrome
저자
by
Sevket Balli
;
Ilker Kemal Yucel
;
Ayse Esin Kibar
;
Ibrahim Ece
;
Eylem Sen Dalkiran
, et al.
소스
世界儿科杂志(英文版) / World Journal of Pediatrics
. 12(4):463-469
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7 .
High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population
저자
by
Sevcan Tug Bozdogan
;
Ahmet C. Ceylan
;
Alper Gezdirici
;
Sukru Candan
;
Harsha Doddapaneni
, et al.
소스
Am J Hum Genet
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7 .
Titin truncating mutations: A rare cause of dilated cardiomyopathy in the young
저자
by
Helen Bornaun
;
Leanne E. Felkin
;
Diane Fatkin
;
Christine E. Seidman
;
Şükrü Candan
, et al.
소스
Progress in Pediatric Cardiology
. 40:41-45
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7 .
Case Report: Y Chromosome Microdeletion in an Infertile Patient with Mosaic Klinefelter Synd
저자
by
Mehmet Kaba
;
Esin Sakalli Cetin
;
Sukru Candan
;
Mehmet Çetinkaya
;
MÜ, Tıp Fakültesi, Cerrahi Tıp Bilimleri Bölümü
, et al.
소스
International Journal of Human Genetics
. 15:145-148
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7 .
Ocular anomalies in Rubinstein–Taybi syndrome
저자
by
Feride Candan
;
Cigdem Ornek
;
Sukru Candan
.
소스
Clinical Dysmorphology
. 23:138-142
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5 .
Novel mutations in PTPN11 gene in two girls with Noonan syndrome phenotype
저자
by
Sukru Candan
;
Esra Ataman
;
Zeynep Ocak
;
Coskun Yarar
;
Elif Yilmaz Gulec
.
소스
International Journal of Cardiology
. 186:13-15
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7 .
Molecular genetic screening of MBS1 locus on chromosome 13 for microdeletions and exclusion of FGF9, GSH1 and CDX2 as causative genes in patients with Moebius syndrome
저자
by
Hülya Kayserili
;
Abdullah Uzumcu
;
Burak Tatlı
;
Hacer Eris
;
Sukru Candan
, et al.
소스
European Journal of Medical Genetics
. 52:315-320
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7 .
Mutational screening of BASP1 and transcribed processed pseudogene TPΨg-BASP1 in patients with Möbius syndrome
저자
by
Güven Toksoy
;
Memnune Yuksel-Apak
;
Abdullah Uzumcu
;
Sukru Candan
;
Burak Tatlı
, et al.
소스
Journal of Genetics and Genomics
. 36:251-256
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7 .
Congenital heart disease in children with Downs syndrome: Turkish experience of 13 years
저자
by
Turkan Ertugrul
;
Rukiye Eker Omeroglu
;
Naci Öner
;
Sukru Candan
;
Kemal Nisli
, et al.
소스
Acta Cardiologica
. 63:585-589
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