Yayınlar

Clinical and genetic characteristics of patients with monocarboxylate transporter-8 deficiency: a multicentre retrospective study

NURULLAH ÇELİK, KORCAN DEMİR, Saime Ergen Dibeklioglu, Bumin Nuri Dundar, NİHAL HATİPOĞLU, Gul Yesiltepe Mutlu, EMRULLAH ARSLAN, Didem Yildirimcakar, Atilla Çayır, Bulent Hacihamdioglu, Zumrut Kocabey Sutcu, Yagmur Unsal ve 1 yazar daha

• WoS Q1
• Scopus Q1
• WoS 3 atıf

A Rare Complication of Acute Otitis Media: Cerebellar Abscess

Tuğçe Çakır, Halil Keskin, Zerrin Orbak

Turner Sendrmu Zemininde Gelişen Norrie Hastalığı

Hakan Döneray, AYBERK TÜRKYILMAZ, AYŞE ÖZDEN

Hipergonadotropik Hipogonadizmin Nadir Bir Nedeni: Transaldolaz Eksikliği

Hakan Döneray, AYBERK TÜRKYILMAZ, AYŞE ÖZDEN

The safety of initial single therapeutic dose challenge with a 5-day prolonged drug provocation test in children with a history of low-risk non-immediate reactions to beta-lactam antibiotics

Meltem Comert, Ozge Yilmaz Topal, Tuğba Güler, Demet Tekcan, Hasibe Artac, Ilknur Kulhas Celik

• WoS Q3
• Scopus Q1
• WoS 1 atıf

Natural history of ENPP1 deficiency: Nationwide Turkish Cohort Study of autosomal-recessive hypophosphataemic rickets type 2

Fatma Dursun, İHSAN TURAN, Eda celebi Bitkin, Elvan BAYRAMOĞLU, Atilla Çayır, Senay Savas Erdeve, Esra Deniz Papatya Cakir, EMİNE ÇAMTOSUN, Semine Ozdemir Dilek, Heves Kirmizibekmez, Metin Eser, Ayberk Turkyilmaz ve 1 yazar daha

• WoS Q3
• Scopus Q2
• WoS 5 atıf

Normal size of retropharyngeal lymph nodes in children on three dimensional magnetic resonance imaging

Elif Gözgeç, Hasan Durmuş, Hayri Ogul, Zerrin Orbak, Hatice Lamia Tuğluoğlu Dalcı

• WoS Q2
• Scopus Q1
• WoS 2 atıf
• PlumX

Evaluating the gonads of left-handed children using ultrasonography and comparing the findings with those of right-handed ones

İlknur Sürücü Kara, Erdal Karavaş, Ahmet Yalçın, YUSUF KEMAL ARSLAN, Zerrin Orbak

• WoS Q1
• Scopus Q1
• PlumX

ÇOCUKLUK ÇAĞINDA DİYABET TANI VE TEDAVİ

Ayşe Takım

LENFADENOPATİ AYIRICI TANISINDA SİSTEMİK LUPUS ERİTEMATOZUS: BİR OLGU SUNUMU

Tuğçe Çakır, Zafer Bıçakçı, Zerrin Orbak

Genetic Evaluation of the Patients with Clinically Diagnosed Inborn Errors of Immunity by Whole Exome Sequencing: Results from a Specialized Research Center for Immunodeficiency in Türkiye

BARAN ERMAN, Umran Aba, Canberk Ipsir, Damla Pehlivan, Caner Aytekin, Gökhan Cildir, BEGÜM ÇİÇEK, Ceren Bozkurt, Sidem Tekeoglu, Melisa Kaya, Cigdem Aydogmus, Funda Cipe ve 34 yazar daha

• WoS Q1
• Scopus Q1
• WoS 11 atıf

Retrospective analysis of hemophilia B in Turkey: identifying main characteristics and treatment options

Osman Bülent ZÜLFİKAR, Başak Koç, Fahri Şahin, HATİCE İLGEN ŞAŞMAZ, Kaan Kavaklı, Can Balkan, Ali Bülent Antmen, Sinan Akbayram, BİROL GÜVENÇ, Vahap Okan, Emine Türkkan, Canan Albayrak ve 30 yazar daha

• WoS Q2
• Scopus Q2
• WoS 1 atıf

A Little Known But Very Common Phenotype in Patients with Congenital Neutropenia Due to HAX1 Deficiency: Premature Ovarian Failure

Deniz Ozalp Kizilay, Deniz Yilmaz Karapinar, Nihal Karadas, Murat Karaoglan, Sinan Akbayram, Damla Goksen, Ayse Gadashova, Serpil Albayrak, Esra Pekpak Sahinoglu, Cansu KOÇ, Aysegul Unuvar, Zerrin Orbak ve 9 yazar daha

• WoS Q1
• Scopus Q1

Clinical and Laboratory Findings in Children with Hashimoto’s Thyroiditis

Ayşe ÖZDEN, Hakan Döneray

• Scopus Q2
• WoS 1 atıf
• PlumX

Adherence to Growth Hormone Treatment in Children During the COVID-19 Pandemic

ERDAL EREN, Semra Cetinkaya, YASEMİN DENKBOY ÖNGEN, Ummahan Tercan, ŞÜKRAN DARCAN, HANDE TURAN, Murat Aydin, Fatma Yavuzyilmaz, Fatih Kilci, BERAY SELVER EKLİOĞLU, KÜBRA YÜKSEK ACİNİKLİ, NİHAL HATİPOĞLU ve 6 yazar daha

• WoS Q3
• Scopus Q2
• WoS 2 atıf
• PlumX

Relationship of advanced glycation end products with disease severity in breast-fed infants with atopic dermatitis.

Şenay Burçin Alkan, Tuğba Güler, İlknur Külhaş Çelik, Hasibe Artaç

• WoS Q1
• Scopus Q1

Gastrointestinal system involvement in patients with primary immunodeficiency: a single center experience.

Tuğba Güler, Ilknur Kulhas Celik, Anna Carina Ergani, Meltem Gumus, Halil Haldun Emiroglu, Hasibe Artac

• WoS Q3
• Scopus Q3
• WoS 2 atıf

Clinical and Laboratory Characteristics of MODY Cases, Genetic Mutation Spectrum and Phenotype-genotype Relationship

ELİF ÖZSU, Semra Cetinkaya, Semih Bolu, NİHAL HATİPOĞLU, Senay Savas Erdeve, SAADET OLCAY EVLİYAOĞLU, Firdevs BAŞ, Atilla Çayır, İSMAİL DÜNDAR, Emine Demet Akbas, Seyid Ahmet Ucakturk, Merih Berberoglu ve 13 yazar daha

• WoS Q3
• Scopus Q2
• WoS 17 atıf

High frequency of transient congenital hypothyroidism among infants referred for suspected congenital hypothyroidism from the Turkish National screening program: thyroxine dose may guide the prediction of transients

Y. Ozer, A. Anik, Uğurcan Sayılı, U. Tercan, R. Deveci Sevim, S. Gunes, M. Buhur Pirimoglu, S. Elmaogullari, İsmail Dündar, D. Okdemir, O. Besci, A. Jalilova ve 27 yazar daha

• WoS Q2
• Scopus Q1
• WoS 16 atıf
• PlumX

17α Hydroxylase/17,20 lyase deficiency: clinical features and genetic insights from a large Turkey cohort

ZEYNEP ŞIKLAR, EMİNE ÇAMTOSUN, Semih Bolu, Melek Yildiz, AYŞEHAN AKINCI, Firdevs Bas, İSMAİL DÜNDAR, Asli Bestas, Edip Unal, Pinar Kocaay, TÜLAY GÜRAN, Gonul Buyukyilmaz ve 28 yazar daha

• WoS Q3
• Scopus Q2
• WoS 13 atıf
• PlumX