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1 . Academic Journal
Osteogenesis imperfecta in 140 Turkish families: Molecular spectrum and, comparison of long-term clinical outcome of those with COL1A1/A2 and biallelic variants
저자
by
Tüysüz, Beyhan
;
Elkanova, Leyla
;
Uludağ Alkaya, Dilek
;
Güleç, Çağrı
;
Toksoy, Güven
, et al.
소스
In
Bone
February 2022 155
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7 . Academic Journal
Clinical and molecular genetic findings of hereditary Parkinson's patients from Turkey
저자
by
Emekli, Inci
;
Tepgeç, Fatih
;
Samancı, Bedia
;
Toksoy, Güven
;
Hasanoğulları Kına, Gizem
, et al.
소스
In
Parkinsonism and Related Disorders
December 2021 93:35-39
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7 . Academic Journal
Primary coenzyme Q10 Deficiency-6 (COQ10D6): Two siblings with variable expressivity of the renal phenotype
저자
by
Yuruk Yildirim, Zeynep
;
Toksoy, Guven
;
Uyguner, Oya
;
Nayir, Ahmet
;
Yavuz, Sevgi
, et al.
소스
In
European Journal of Medical Genetics
January 2020 63(1)
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7 . Academic Journal
Clinical and Genetic Investigation of Premature Ovarian Insufficiency Cases from Turkey
저자
by
Oral, Engin
;
Toksoy, Guven
;
Sofiyeva, Nigar
;
Celik, Hale Goksever
;
Karaman, Birsen
, et al.
소스
In
Journal of Gynecology Obstetrics and Human Reproduction
December 2019 48(10):817-823
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7 . Academic Journal
Cleidocranial dysplasia: Clinical, endocrinologic and molecular findings in 15 patients from 11 families
저자
by
Dinçsoy Bir, Firdevs
;
Dinçkan, Nuriye
;
Güven, Yeliz
;
Baş, Firdevs
;
Altunoğlu, Umut
, et al.
소스
In
European Journal of Medical Genetics
March 2017 60(3):163-168
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7 . Academic Journal
A new hereditary congenital facial palsy case supports arg5 in HOX-DNA binding domain as possible hot spot for mutations
저자
by
Uyguner, Zehra Oya
;
Toksoy, Güven
;
Altunoglu, Umut
;
Ozgur, Hilal
;
Basaran, Seher
, et al.
소스
In
European Journal of Medical Genetics
June-July 2015 58(6-7):358-363
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7 . Academic Journal
Clinical and molecular characteristics of 26 fetuses with lethal multiple congenital contractures.
저자
by
Turgut, Gozde Tutku
;
Altunoglu, Umut
;
Gulec, Cagri
;
Sarac Sivrikoz, Tugba
;
Kalaycı, Tuğba
, et al.
소스
Clinical Genetics
. Jan2024, p1. 15p. 3 Illustrations, 3 Charts.
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7 . Academic Journal
HETEROPLASMY-ASSOCIATED MITOCHONDRIAL DNA VARIANTS IN HUMAN BLOOD AND SKELETAL MUSCLE SAMPLES.
저자
by
GÜLEÇ, Çağrı
;
GEDİKBAŞI, Asuman
;
ŞAHİN, Gökçen
;
TOKSOY, Güven
;
DURAMAZ, Altuğ
, et al.
소스
Journal of Istanbul Faculty of Medicine / İstanbul Tıp Fakültesi Dergisi
. 2024, Vol. 87 Issue 1, p1-10. 10p.
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7 . Academic Journal
PROKR2 Mutations in Patients with Short Stature Who Have Isolated Growth Hormone Deficiency and Multiple Pituitary Hormone Deficiency.
저자
by
Kardelen, Aslı Derya
;
Najaflı, Adam
;
Baş, Firdevs
;
Karaman, Birsen
;
Toksoy, Güven
, et al.
소스
Journal of Clinical Research in Pediatric Endocrinology
. Dec2023, Vol. 15 Issue 4, p338-347. 10p.
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7 . Academic Journal
Novel GALT variations and genetic spectrum in Turkish population with the correlation of genotype and phenotype.
저자
by
Kalay, Irem
;
Gulec, Cagri
;
Balcı, Mehmet Cihan
;
Toksoy, Guven
;
Gokcay, Gulden
, et al.
소스
Annals of Human Genetics
. Nov2023, Vol. 87 Issue 6, p285-294. 10p.
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