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21 . Academic Journal
Ovarian and paraovarian adrenal rest tumors are not uncommon in gonadectomy materials of historical congenital adrenal hyperplasia cases in childhood.
저자
by
Yildiz, Melek
;
Bayram, Aysel
;
Bas, Firdevs
;
Karaman, Volkan
;
Toksoy, Guven
, et al.
소스
European Journal of Endocrinology
. Jul2022, Vol. 187 Issue 1, pK13-K18. 6p.
Full Text (OUP)
Web of Science
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27 . Academic Journal
Mutations in AR or SRD5A2 Genes: Clinical Findings, Endocrine Pitfalls, and Genetic Features of Children with 46,XY DSD.
저자
by
Akcan, Neşe
;
Uyguner, Oya
;
Baş, Firdevs
;
Altunoğlu, Umut
;
Toksoy, Güven
, et al.
소스
Journal of Clinical Research in Pediatric Endocrinology
. Jun2022, Vol. 14 Issue 2, p153-171. 19p.
Web of Science
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27 . Academic Journal
Functional loss of ubiquitin‐specific protease 14 may lead to a novel distal arthrogryposis phenotype.
저자
by
Turgut, Gozde Tutku
;
Altunoglu, Umut
;
Sivrikoz, Tugba Sarac
;
Toksoy, Guven
;
Kalaycı, Tuğba
, et al.
소스
Clinical Genetics
. Apr2022, Vol. 101 Issue 4, p421-428. 8p.
Web of Science
Scopus
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27 . Academic Journal
Clinical and Molecular Genetic Findings of Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy.
저자
by
Sevinç Rüstemoğlu, Burcu
;
Samancı, Bedia
;
Tepgeç, Fatih
;
Kürtüncü, Murat
;
Altunoğlu, Umut
, et al.
소스
Turkish Journal of Neurology / Turk Noroloji Dergisi
. Sep2021, Vol. 17 Issue 3, p240-247. 8p.
Scopus
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27 . Academic Journal
Functional Connectivity Analysis in Heterozygous Glucocerebrosidase Mutation Carriers.
저자
by
Sezgin, Mine
;
Kicik, Ani
;
Bilgic, Basar
;
Kurt, Elif
;
Bayram, Ali
, et al.
소스
Journal of Parkinson's Disease
. 2021, Vol. 11 Issue 2, p559-568. 10p.
Web of Science
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27 . Academic Journal
BEND4 as a Candidate Gene for an Infection-Induced Acute Encephalopathy Characterized by a Cyst and Calcification of the Pons and Cerebellar Atrophy.
저자
by
Kara, Bülent
;
Uyguner, Oya
;
Maraş Genç, Hülya
;
İşlek, Eylül Ece
;
Kasap, Murat
, et al.
소스
Molecular Syndromology; Feb2022, Vol. 13 Issue 1, p12-22, 11p
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27 . Academic Journal
NOONAN SENDROMU’NUN PRENATAL TANISINDA PTPN11 GEN ANALİZLERİNİN ETKİNLİĞİ.
저자
by
TOKSOY, Güven
;
TEPGEÇ, Fatih
;
SARAÇ SİVRİKOZ, Tuğba
;
KALELİOĞLU, İbrahim Halil
;
DEMİR, Selma
, et al.
소스
Journal of Istanbul Faculty of Medicine / İstanbul Tıp Fakültesi Dergisi
. 2021, Vol. 84 Issue 1, p34-39. 6p.
Scopus
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27 . Academic Journal
Cognition of the mothers of patients with Duchenne muscular dystrophy.
저자
by
Demirci, Hasan
;
Durmus, Hacer
;
Toksoy, Guven
;
Uslu, Atilla
;
Parman, Yesim
, et al.
소스
Muscle & Nerve
. Dec2020, Vol. 62 Issue 6, p710-716. 7p.
Full Text (Wiley)
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27 . Academic Journal
CHANGES IN CLINICAL AND CYTOGENETIC FINDINGS OF INVASIVE PRENATAL DIAGNOSIS FROM 1989 TO 2011 IN ISTANBUL; IMPACT OF THE BIOCHEMICAL SCREENING TESTS AND FETAL ULTRASONOGRAPHY.
저자
by
BAŞARAN, Seher
;
KARAMAN, Birsen
;
KIRGIZ, Melike
;
KALELİOĞLU, İbrahim Halil
;
HAS, Recep
, et al.
소스
Journal of Istanbul Faculty of Medicine / İstanbul Tıp Fakültesi Dergisi
. 2020, Vol. 83 Issue 4, p315-324. 10p.
JCR 저널정보
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27 . Academic Journal
Skeletal and molecular findings in 51 Cleidocranial dysplasia patients from Turkey.
저자
by
Berkay, Ezgi Gizem
;
Elkanova, Leyla
;
Kalaycı, Tuğba
;
Uludağ Alkaya, Dilek
;
Altunoğlu, Umut
, et al.
소스
American Journal of Medical Genetics. Part A; Aug2021, Vol. 185 Issue 8, p2488-2495, 8p
Web of Science
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