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1 . Academic Journal
Phenotype-Genotype Correlations of GH1 Gene Variants in Patients with Isolated Growth Hormone Deficiency or Multiple Pituitary Hormone Deficiency.
저자
by
Öztürk, Ayşe Pınar
;
Yavas Abali, Zehra
;
Aslanger, Ayça Dilruba
;
Bas, Firdevs
;
Toksoy, Güven
, et al.
소스
Hormone Research in Paediatrics
. 2024, Vol. 97 Issue 2, p126-133. 8p.
Web of Science
Scopus
JCR 저널정보
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7 . Academic Journal
A Rare Inherited Bone Marrow Failure Syndrome Disclosed by Reanalysis of the Exome Data of a Patient Evaluated for Cytopenia and Dysmorphic Features.
저자
by
Durmaz, Durmus
;
Aslanger, Ayca Dilruba
;
Yavas Abali, Zehra
;
Yilmaz, Yasin
;
Karaman, Volkan
, et al.
소스
Journal of Pediatric Hematology/Oncology; Apr2024, Vol. 46 Issue 3, pe214-e219, 6p
Full Text (LWW)
Web of Science
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7 . Academic Journal
JAG1 MUTATION SPECTRUM IN CASES WITH ALAGILLE SYNDROME FROM TURKIYE.
저자
by
ASLANGER, Ayça Dilruba
;
YILDIRIM, Behiye Tuğçe
;
KALAYCI, Tuğba
;
ŞENTÜRK, Leyli
;
AVCI, Şahin
, et al.
소스
Journal of Istanbul Faculty of Medicine / İstanbul Tıp Fakültesi Dergisi
. 2023, Vol. 86 Issue 4, p327-335. 9p.
Scopus
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7 . Academic Journal
Clinical and Molecular Findings of Nine Cases with Tay-Sachs Disease From Türkiye.
저자
by
Aslanger, Ayça Dilruba
;
Güleç, Çağrı
;
Kalaycı, Tuğba
;
Şengenç, Esma
;
Avcı, Şahin
, et al.
소스
Medical Journal of Bakirkoy
. Jun2023, Vol. 19 Issue 2, p222-228. 7p.
Scopus
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7 . Academic Journal
Fibular Agenesis and Ball-Like Toes Mimicking Preaxial Polydactyly: Prenatal Presentation of Du Pan Syndrome.
저자
by
Turgut, G. Tutku
;
Kalelioglu, Ibrahim Halil
;
Karaman, Volkan
;
Sarac Sivrikoz, Tugba
;
Karaman, Birsen
, et al.
소스
Molecular Syndromology; 2023, Vol. 14 Issue 2, p152-157, 6p
Web of Science
Scopus
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7 . Academic Journal
CLINICAL AND MOLECULAR RESULTS OF SIX CASES WITH ROBERTS SYNDROME: REVIEW OF CASES FROM TURKIYE.
저자
by
ASLANGER, Ayça Dilruba
;
KALAYCI, Tuğba
;
KONUR, Esma Nur
;
GÜLEÇ, Çağrı
;
AVCI, Şahin
, et al.
소스
Journal of Istanbul Faculty of Medicine / İstanbul Tıp Fakültesi Dergisi
. 2022, Vol. 85 Issue 4, p501-509. 9p.
Scopus
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7 . Academic Journal
Clinical and molecular genetic findings of Crisponi/cold‐induced sweating syndrome (CS/CISS) spectrum in patients from Turkey.
저자
by
Yilmaz Gulec, Elif
;
Turgut, Gozde Tutku
;
Gezdirici, Alper
;
Karaman, Volkan
;
Ozturk, Fatma Nihal
, et al.
소스
Clinical Genetics
. Sep2022, Vol. 102 Issue 3, p201-217. 17p.
Web of Science
Scopus
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7 . Academic Journal
Idiopathic angioedema with F12 mutation: is it a new entity?
저자
by
Gelincik, Aslı
;
Demir, Semra
;
Olgaç, Müge
;
Karaman, Volkan
;
Toksoy, Güven
, et al.
소스
In
Annals of Allergy, Asthma & Immunology
February 2015 114(2):154-156
Full Text (ScienceDirect)
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7 . 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)
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7 . 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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