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Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 21, 2017
Biallelic and monoallelic ESR2 variants associated with 46,XY disorders of sex developmentDorien Baetens, Tülay Güran, Berenice B Mendonca, et al.
European Journal of Endocrinology|October 29, 2021
Broad-spectrum XX and XY gonadal dysgenesis in patients with a homozygous L193S variant in PPP2R3CDilek Cicek, Nick Warr, Gozde Yesil, et al.
The Turkish Journal of Pediatrics|December 24, 2008
Adult height in Turkish patients with Turner syndrome without growth hormone treatmentAbdullah Bereket, Serap Turan, Nursel Elçioğlu, et al.
The Journal of Clinical Endocrinology and Metabolism|January 14, 2022
Steroid Hormone Profiles and Molecular Diagnostic Tools in Pediatric Patients With non-CAH Primary Adrenal InsufficiencyTuba Seven Menevse, Yasemin Kendir Demirkol, Busra Gurpinar Tosun, et al.
The Journal of Clinical Endocrinology and Metabolism|March 17, 2015
Homozygous loss-of-function mutations in SOHLH1 in patients with nonsyndromic hypergonadotropic hypogonadismYavuz Bayram, Suleyman Gulsuner, Tulay Guran, et al.
Hormone Research in Paediatrics|March 30, 2012
The exon 3-deleted/full-length growth hormone receptor polymorphism and response to growth hormone therapy in growth hormone deficiency and Turner syndrome: a multicenter studyFirdevs Baş, Feyza Darendeliler, Zehra Aycan, et al.
The Journal of Clinical Endocrinology and Metabolism|January 18, 2020
Revisiting Classical 3β-hydroxysteroid Dehydrogenase 2 Deficiency: Lessons from 31 Pediatric CasesTulay Guran, Cengiz Kara, Melek Yildiz, et al.
Journal of Clinical Research in Pediatric Endocrinology|October 8, 2024
Evaluation of Growth Characteristics and Final Height of Cases Diagnosed with Noonan Syndrome on Growth Hormone TreatmentZeynep Şıklar, Merih Berberoğlu, Sirmen Kızılcan Çetin, et al.
The Journal of Clinical Endocrinology and Metabolism|April 8, 2021
Clinical and Hormonal Profiles Correlate With Molecular Characteristics in Patients With 11β-Hydroxylase DeficiencyMelek Yildiz, Emregul Isik, Zehra Yavas Abali, et al.
Kidney International|October 26, 2024
Presentation and outcome in carriers of pathogenic variants in SLC34A1 and SLC34A3 encoding sodium-phosphate transporter NPT 2a and 2cMax Brunkhorst, Lena Brunkhorst, Helge Martens, et al.
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