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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
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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
Scopus
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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, Radiological, and Molecular Findings in Cases with TRAPPopathies.
저자
by
Aslanger, Ayca Dilruba
;
Sengenç, Esma
;
Yücesan, Emrah
;
Goncu, Beyza
;
İşcan, Akın
, et al.
소스
Journal of the Child / Çocuk Dergisi
. eyl2023, Vol. 23 Issue 3, p1-7. 7p.
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7 . Academic Journal
Functional characterization of
KCNMA1
mutation associated with dyskinesia, seizure, developmental delay, and cerebellar atrophy.
저자
by
Yucesan, Emrah
;
Goncu, Beyza
;
Ozgul, Cemil
;
Kebapci, Arda
;
Aslanger, Ayca Dilruba
, et al.
소스
International Journal of Neuroscience
. Jun2023, p1-6. 6p. 2 Illustrations.
Web of Science
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
A CASE OF POLYCYTHEMIA DIAGNOSED AS HEMOGLOBIN ANDREW-MINNEAPOLIS
저자
by
Bilici, Mustafa
;
Karaman, Serap
;
Unuvar, Aysegul
;
Tugcu, Deniz
;
Tanyildiz, Gülsah
, et al.
소스
In
Hematology, Transfusion and Cell Therapy
November 2021 43 Supplement 3:S62-S63
Full Text (ScienceDirect)
Full Text (ScienceDirect O/A)
Scopus
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7 . Academic Journal
Clinical and bi-genomic DNA findings of patients suspected to have mitochondrial diseases.
저자
by
Gedikbasi, Asuman
;
Toksoy, Guven
;
Karaca, Meryem
;
Gulec, Cagri
;
Balci, Mehmet Cihan
, et al.
소스
Frontiers in Genetics; 2023, p1-14, 14p
Web of Science
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7 . Academic Journal
A Novel Mutation in the TRIP11 Gene: Diagnostic Approach from Relatively Common Skeletal Dysplasias to an Extremely Rare Odontochondrodysplasia.
저자
by
Yeter, Burcu
;
Aslanger, Ayca Dilruba
;
Yeşil, Gözde
;
Elçioğlu, Nursel H.
.
소스
Journal of Clinical Research in Pediatric Endocrinology
. Dec2022, Vol. 14 Issue 4, p475-480. 6p.
Web of Science
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6 . Academic Journal
A Second Family with Myhre Syndrome Caused by the Same Recurrent SMAD4 Pathogenic Variation (p.Arg496Cys).
저자
by
Demir, Şenol
;
Alavanda, Ceren
;
Yeşil, Gözde
;
Aslanger, Ayça Dilruba
;
Ateş, Esra Arslan
.
소스
Molecular Syndromology; 2023, Vol. 14 Issue 2, p175-180, 6p
Web of Science
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