Exome Sequencing of a Primary Ovarian Insufficiency Cohort Reveals Common Molecular Etiologies for a Spectrum of Disease von Jolly, Angad, Bayram, Yavuz, Turan, Serap, Aycan, Zehra, Tos, Tulay, Abali, Zehra Yavas, Hacihamdioglu, Bulent, Coban Akdemir, Zeynep Hande, Hijazi, Hadia, Bas, Serpil, Atay, Zeynep, Guran, Tulay, Abali, Saygin, Bas, Firdevs, Darendeliler, Feyza, Colombo, Roberto, Barakat, Tahsin Stefan, Rinne, Tuula, White, Janson J, Yesil, Gozde, Gezdirici, Alper, Gulec, Elif Yilmaz, Karaca, Ender, Pehlivan, Davut, Jhangiani, Shalini N, Muzny, Donna M, Poyrazoglu, Sukran, Bereket, Abdullah, Gibbs, Richard A, Posey, Jennifer E, Lupski, James R

Volltext

Preterm ovarian hyperstimulation syndrome mimicking clitoromegaly von Ay, Zeynep Alize, Abali, Saygin, Korkmaz, Ayse, Beken, Serdar

Volltext

Early postnatal metabolic profile in neonates with critical CHDs von Guvenc, Osman, Beken, Serdar, Abali, Saygin, Saral, Neslihan Yildirim, Yalcin, Gizem, Albayrak, Eda, Bulum, Burcu, Demirelce, Ozlem, Basgoze, Serdar, Odemis, Ender, Erek, Ersin, Serteser, Mustafa, Toygar, Ayse Korkmaz

Volltext

Neonatal Problems and Infancy Growth of Term SGA Infants: Does "SGA" Definition Need to Be Re-evaluated? von Abali, Saygin, Beken, Serdar, Albayrak, Eda, Inamlik, Aysegul, Bulum, Burcu, Bulbul, Ezgi, Eksi, Gulten Zeynep, Ay, Zeynep Alize, Karabay, Melis, Kaya, Didem, Halici, Muge, Semiz, Serap, Korkmaz, Ayse

Volltext

Early Postnatal Metabolic Profile in Neonates With Different Birth Weight Status: A Pilot Study von Beken, Serdar, Abali, Saygin, Yildirim Saral, Neslihan, Guner, Bengisu, Dinc, Taha, Albayrak, Eda, Ersoy, Melike, Kilercik, Meltem, Halici, Muge, Bulbul, Ezgi, Kaya, Didem, Karabay, Melis, Ay, Zeynep Alize, Eksi, Gulten Zeynep, Benli Aksungar, Fehime, Korkmaz, Ayse, Serteser, Mustafa

Volltext

CDH3 gene related hypotrichosis and juvenile macular dystrophy - A case with a novel mutation von Karti, Omer, Abali, Saygin, Ayhan, Ziya, Gokmeydan, Eylem, Nalcaci, Serhad, Yaman, Aylin, Saatci, Ali Osman

Volltext

Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis Due to CLDN16 Gene Mutations: Novel Findings in Two Cases with Diverse Clinical Features von Eltan, Mehmet, Yavas Abali, Zehra, Turkyilmaz, Ayberk, Gokce, Ibrahim, Abali, Saygın, Alavanda, Ceren, Arman, Ahmet, Kirkgoz, Tarik, Guran, Tulay, Hatun, Sukru, Bereket, Abdullah, Turan, Serap

Volltext

The assessment of peripapillary retinal nerve fiber layer and macular ganglion cell layer changes in obese children: a cross-sectional study using optical coherence tomography von Karti, Omer, Nalbantoglu, Ozlem, Abali, Saygin, Tunc, Selma, Ozkan, Behzat

Volltext

Challenges in the management of a 7 years old child with thyrotropin-secreting pituitary adenoma and the review of the literature von Kirkgöz, Tarık, Abali, Saygin, Seker, Askin, Gurpinar Tosun, Busra, Eltan, Mehmet, Helvacioglu, Didem, Haliloglu, Belma, Kaygusuz, Sare Betul, Yavas Abali, Zehra, Seven Menevse, Tuba, Bozkurt, Suheyla, Ones, Tunc, Guran, Tulay, Dagcinar, Adnan, Bereket, Abdullah, Turan, Serap

Volltext

Challenges in the Management of a 7-Year-Old Child with Thyrotropin-Secreting Pituitary Adenoma and the Review of the Literature von Kirkgoz, Tarik, Abali, Saygin, Seker, Askin, Gurpinar Tosun, Busra, Eltan, Mehmet, Helvacioglu, Didem, Haliloglu, Belma, Kaygusuz, Sare Betul, Yavas Abali, Zehra, Seven Menevse, Tuba, Bozkurt, Suheyla, Ones, Tunc, Guran, Tulay, Dagcinar, Adnan, Bereket, Abdullah, Turan, Serap

Volltext

Evidence of hormone resistance in a pseudo-pseudohypoparathyroidism patient with a novel paternal mutation in GNAS von Turan, Serap, Thiele, Susanne, Tafaj, Olta, Brix, Bettina, Atay, Zeynep, Abali, Saygin, Haliloglu, Belma, Bereket, Abdullah, Bastepe, Murat

Volltext

Identification of PENDRIN (SLC26A4) Mutations in Patients With Congenital Hypothyroidism and “Apparent” Thyroid Dysgenesis von Kühnen, Peter, Turan, Serap, Fröhler, Sebastian, Güran, Tülay, Abali, Saygin, Biebermann, Heike, Bereket, Abdullah, Grüters, Annette, Chen, Wei, Krude, Heiko

Volltext

Hypoglycemia is common in children with cystic fibrosis and seen predominantly in females von Haliloglu, Belma, Gokdemir, Yasemin, Atay, Zeynep, Abali, Saygin, Guran, Tulay, Karakoc, Fazilet, Ersu, Refika, Karadag, Bulent, Turan, Serap, Bereket, Abdullah

Volltext

Infantile loss of teeth: odontohypophosphatasia or childhood hypophosphatasia von Haliloglu, Belma, Guran, Tulay, Atay, Zeynep, Abali, Saygın, Mornet, Etienne, Bereket, Abdullah, Turan, Serap

Volltext

COMPARISON OF TWO DIFFERENT GNRH ANALOGS' IMPACT ON FINAL HEIGHT IN GIRLS WITH EARLY PUBERTY: TRIPTORELIN ACETATE VS. LEUPROLIDE ACETATE von Aka, S., Abali, S., Taskin, A., Bengur, F. B., Semiz, S.

Volltext

Hypoglycemia is common in children with cystic fibrosis and seen predominantly in females: HALILOGLU et al von Haliloglu, Belma, Gokdemir, Yasemin, Atay, Zeynep, Abali, Saygin, Guran, Tulay, Karakoc, Fazilet, Ersu, Refika, Karadag, Bulent, Turan, Serap, Bereket, Abdullah

Volltext

Novel homozygous inactivating mutation of the calcium-sensing receptor gene ( CASR ) in neonatal severe hyperparathyroidism—lack of effect of cinacalcet von Atay, Zeynep, Bereket, Abdullah, Haliloglu, Belma, Abali, Saygin, Ozdogan, Tutku, Altuncu, Emel, Canaff, Lucie, Vilaça, Tatiane, Wong, Betty Y.L, Cole, David E.C, Hendy, Geoffrey N, Turan, Serap

Volltext

Characteristics of Turkish children with Type 2 diabetes at onset: a multicentre, cross‐sectional study von Hatun, S., Yesiltepe Mutlu, G., Cinaz, P., Turan, S., Ekberzade, A., Bereket, A., Erbas, M. Y., Akcay, T., Onal, H., Bolu, S., Arslanoglu, I., Doger, E., Yilmaz, A. A., Ucakturk, A., Karabulut, G. S., Tuhan, H. Ü., Demir, K., Erdeve, S. S., Aycan, Z., Nalbantoğlu, Ö., Kara, C., Gungor, N.

Volltext

Clinical and genetic characteristics of a large international cohort of individuals with rare NR5A1/SF-1 variants of sex developmentResearch in context von Chrysanthi Kouri, Grit Sommer, Idoia Martinez de Lapiscina, Rawda Naamneh Elzenaty, Lloyd J.W. Tack, Martine Cools, S. Faisal Ahmed, Christa E. Flück, Saygin Abali, Zehra Yavas Abali, Leyla Akin, Maricruz Almaraz, Laura Audí, Murat Aydin, Antonio Balsamo, Federico Baronio, Jillian Bryce, Kanetee Busiah, Maria Caimari, Núria Camats-Tarruella, Ariadna Campos-Martorell, Luis Castaño, Anna Casteràs, Semra Çetinkaya, Yee-Ming Chan, Hedi L. Claahsen-van der Grinten, Ines Costa, Fatma Feyza Darendeliler, Justin H. Davies, Isabel Esteva, Helena Fabbri-Scallet, Courtney A. Finlayson, Emilio Garcia, Beatriz Garcia Cuartero, Alina German, Evgenia Globa, Gil Guerra-Junior, Julio Guerrero, Tulay Guran, Sabine E. Hannema, Olaf Hiort, Josephine Hirsch, Leuan Hughes, Marco Janner, Zofia Kolesinska, Katherine Lachlan, Anna Lauber-Biason, Jana Krenek Malikova, Dagmar l'Allemand, Nina Lenhnerr-Taube, Angela Lucas-Herald, Jamala Mammadova, Kenneth MсElreavey, Veronica Mericq, Isabel Mönig, Francisca Moreno, Julia Mührer, Marek Niedziela, Anna Nordenstrom, Burçe Orman, Sukran Poyrazoglu, Jose M. Rial, Meilan M. Rutter, Amaia Rodríguez, Tara Schafer-Kalkhoff, Kay-Sara Sauter, Sumudu Nimali Seneviratne, Maria Sredkova-Ruskova, Rieko Tadokoro-Cuccaro, Ajay Thankamony, Mónica Tomé, Amaia Vela, Malgorzata Wasniewska, David Zangen, Nataliya Zelinska

Volltext

Premature Pubarche, Hyperinsulinemia, Hypothyroxinemia and Hyperintensities in Basal Ganglia: All Caused by a Single Congenital Defect von Bas, Serpil, Güran, Tülay, Atay, Zeynep, Haliloglu, Belma, Abali, Saygin, Turan, Serap, Bereket, Abdullah

Volltext