E F Percin
Overview
Explore the profile of E F Percin including associated specialties, affiliations and a list of published articles.
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Snapshot
Articles
26
Citations
141
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0
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Recent Articles
1.
Tug E, Ergun M, Percin E
Genet Couns
. 2018 Sep;
27(4):471-478.
PMID: 30226965
Rett syndrome (RTT) and Angelman syndrome (AS) are devastating neurological disorders that participate in overlapping clinical features with autism spectrum disorders (ASDs). It has been reported that in addition to...
2.
Bahsi T, Unal A, Bakir A, Percin E
Genet Couns
. 2018 Sep;
27(3):411-418.
PMID: 30204972
Wolcott-Rallison Syndrome (WRS), also known as Multiple Epiphyseal Dysplasia with Early-onset Diabetes Mellitus is a rare autosomal recessive multisystemic disorder. Its characteristic clinical features are permanent neonatal or early infancy...
3.
Cubuk P, Ho L, Reversade B, Percin E
Genet Couns
. 2018 Sep;
27(3):405-410.
PMID: 30204971
Matthew-Wood syndrome (MWS), also termed Microphthalmia, syndrome 9 (MCOPS9, MIM 601186), Spear syndrome, or pulmonary hypoplasia, diaphragmatic hernia, anophthalmia and cardiac defects syndrome (PDAC syndrome), is an autosomal recessive disorder...
4.
Dilek F, Percin E, Kayserili H, Ergun M, Saka N
Genet Couns
. 2018 Sep;
27(3):385-392.
PMID: 30204968
Some of the disorders of sex development (DSD), including 46, XX testicular DSD formerly called "XX maleness" and 46, XY DSD with partial or complete gonadal dysgenesis primarily affect the...
5.
Boppudi S, Bogershausen N, Hove H, Percin E, Aslan D, Dvorsky R, et al.
Clin Genet
. 2016 Mar;
90(4):334-42.
PMID: 26970110
Oculoectodermal syndrome (OES) and encephalocraniocutaneous lipomatosis (ECCL) are rare disorders that share many common features, such as epibulbar dermoids, aplasia cutis congenita, pigmentary changes following Blaschko lines, bony tumor-like lesions,...
6.
Saat H, Soysal Y, Kurtgoz S, Ergun M, Percin E
Genet Couns
. 2016 Feb;
26(4):401-7.
PMID: 26852510
Chromosomal deletions and/or duplications are relatively common cytogenetic abnormalities. Clinical findings depend on pure or complex forms of the anomaly, the location and size. In those cases, using current analytical...
7.
Karaoguz M, Percin E, Pala E, Biri A, Korucuoglu U
Genet Couns
. 2010 Apr;
21(1):9-17.
PMID: 20420024
Reports of abnormal karyotypes or normal 46,XY karyotypes of the abortion materials derivated from tissue cultures are mostly addressing the pregnancy loss tissues. The accuracy of the cytogenetic reports of...
8.
Yesilkaya E, Karaer K, Bideci A, Camurdan O, Percin E, Cinaz P
Genet Couns
. 2008 Nov;
19(3):287-90.
PMID: 18990984
Dubowitz syndrome (DS) (MIM#223370) (4) is a very rare genetic and developmental disorder involving multiple congenital anomalies including: 1) growth failure/short stature; 2) unusual but characteristic facial features; small triangular...
9.
Koc A, Kaymak A, Karaer K, Ergun M, Aksu T, Percin E
Genet Couns
. 2008 Jul;
19(2):193-8.
PMID: 18618994
Congenital radio-ulnar synostosis may be an isolated abnormality or additional abnormalities may accompany it. It may also be found as a part of well-known syndromes. We present a case with...
10.
Koc A, Karaoguz M, Pala E, Kan D, Karaer K, Gucuyener K, et al.
Genet Couns
. 2008 Feb;
18(4):393-9.
PMID: 18286820
Marker or ring X chromosomes are frequently seen in Ullrich-Turner Syndrome with 46,X,r(X) karyotype, but only 8 children were reported with an extra marker X chromosome in at least some...