A Novel Homozygous CYP19A1 Gene Mutation: Aromatase Deficiency Mimicking Congenital Adrenal Hyperplasia in an Infant without Obvious Maternal Virilisation von Dursun, Fatma, Ceylaner, Serdar

Volltext

Hypokalemia and hearing loss in a 3-year-old boy: Questions von Aksoy, Ozlem Yuksel, Cayci, Fatma Semsa, Ceylaner, Serdar, Tokgoz, Sibel Alicura, Kaplan, Gunay, Bayrakci, Umut Selda

Volltext

Hypokalemia and hearing loss in a 3-year-old boy: Answers von Aksoy, Ozlem Yuksel, Cayci, Fatma Semsa, Ceylaner, Serdar, Tokgoz, Sibel Alicura, Kaplan, Gunay, Bayrakci, Umut Selda

Volltext

Compound Heterozygous Variants in FAM111A Cause Autosomal Recessive Kenny-Caffey Syndrome Type 2 von Eren, Erdal, Tezcan Ünlü, Havva, Ceylaner, Serdar, Tarım, Ömer

Volltext

Episodic psychosis, ataxia, motor neuropathy with pyramidal signs (PAMP syndrome) caused by a novel mutation in ADPRHL2 (AHR3) von Durmus, Hacer, Mertoğlu, Elif, Sticht, Heinrich, Ceylaner, Serdar, Kulaksızoğlu, Işın Baral, Hashemolhosseini, Said, Uçar, Evren Önay, Parman, Yesim

Volltext

A rare cause of hydrops fetalis in two Gaucher disease type 2 patients with a novel mutation von Kılavuz, Sebile, Basaranoglu, Murat, Epcacan, Serdar, Bako, Derya, Ozer, Arife, Donmez, Yasemin Nuran, Ceylan, Emine Ipek, Tukun, Ajlan, Ceylaner, Serdar, Geylani, Hadi, Mungan, Halise Neslihan Onenli

Volltext

Central Precocious Puberty in an Infant with Sotos Syndrome and Response to Treatment von Kontbay, Tuğba, Şıklar, Zeynep, Ceylaner, Serdar, Berberoğlu, Merih

Volltext

Newborn screening for SCID: the very first prospective pilot study from Türkiye von Haskologlu, Sule, Kocak, Senem, Tufan, Lale Satiroglu, Aksoy, Fethiye Eken, Bastug, Dilan, Oner, Deniz Aslar, Islamoglu, Candan, Baskin, Kubra, Esenboga, Saliha, Acican, Deniz, Ceylaner, Serdar, Guner, Sukru Nail, Keles, Sevgi, Cagdas, Deniz, Reisli, Ismail, Tezel, Basak, Dogu, Figen, Tezcan, Ilhan, Ikinciogullari, Aydan

Volltext

Reversible pulmonary arterial hypertension in cobalamin-dependent cobalamin C disease due to a novel mutation in the MMACHC gene von Gündüz, Mehmet, Ekici, Filiz, Özaydın, Eda, Ceylaner, Serdar, Perez, Belen

Volltext

Mutations in SLC29A3, encoding an equilibrative nucleoside transporter ENT3, cause a familial histiocytosis syndrome (Faisalabad histiocytosis) and familial Rosai-Dorfman disease von Morgan, Neil V, Morris, Mark R, Cangul, Hakan, Gleeson, Diane, Straatman-Iwanowska, Anna, Davies, Nicholas, Keenan, Stephen, Pasha, Shanaz, Rahman, Fatimah, Gentle, Dean, Vreeswijk, Maaike P G, Devilee, Peter, Knowles, Margaret A, Ceylaner, Serdar, Trembath, Richard C, Dalence, Carlos, Kismet, Erol, Köseoğlu, Vedat, Rossbach, Hans-Christoph, Gissen, Paul, Tannahill, David, Maher, Eamonn R

Volltext

A Case of Common Variable Immunodeficiency with CREBP Gene Mutation without Rubinstein Taybi Syndrome Features von Musabak, Ugur, Ceylaner, Serdar, Erdogan, Tuba, Ayva, Ebru Sebnem

Volltext

Maturity-onset diabetes of the young (MODY)-related genetic variants in a Turkish patient cohort with early-onset diabetes: a cross-sectional study von Gökçay Canpolat, Asena, Keskin, Çağlar, Aydoğan, Berna İmge, Güllü, Sevim, Demir, Özgür, Şahin, Mustafa, Emral, Rıfat, Erdoğan, Murat Faik, Tonyukuk Gedik, Vedia, Çorapçıoğlu, Demet, Ceylaner, Gülay, Ceylaner, Serdar, Başkal, Nilgün

Volltext

Mitotically Active Follicular Nodule in Early Childhood: A Case Report with a Novel Mutation in the Thyroglobulin Gene von Kızılcan Çetin, Sirmen, Aycan, Zehra, Şıklar, Zeynep, Dizbay Sak, Serpil, Ceylaner, Serdar, Özsu, Elif, Berberoğlu, Merih

Volltext

Ectopic Posterior Pituitary, Polydactyly, Midfacial Hypoplasia and Multiple Pituitary Hormone Deficiency due to a Novel Heterozygous IVS11-2A>C(c.1957-2A>C) Mutation in the GLI2 Ge... von Demiral, Meliha, Demirbilek, Hüseyin, Unal, Edip, Durmaz, Ceren Damla, Ceylaner, Serdar, Özbek, Mehmet Nuri

Volltext

Genotypic and phenotypic features in Turkish patients with classic nonketotic hyperglycinemia von Bayrak, Harun, Yıldız, Yılmaz, Olgaç, Asburçe, Kasapkara, Çiğdem Seher, Küçükcongar, Aynur, Zenciroğlu, Ayşegül, Yüksel, Deniz, Ceylaner, Serdar, Kılıç, Mustafa

Volltext

The Prevalence of Fabry Disease Among Turkish Patients with Non-Obstructive Hypertrophic Cardiomyopathy: Insights from a Screening Study von Barman, Hasan Ali, İkitimur, Barış, Kılıçkıran Avcı, Burçak, Durmaz, Eser, Atıcı, Adem, Aslan, Serkan, Ceylaner, Serdar, Karpuz, Hakan

Volltext

Scales of Magt1 Gene: Novel Mutations, Different Presentations von Haskologlu, Sule, Baskin, Kubra, Aytekin, Caner, Islamoglu, Candan, Ceylaner, Serdar, Dogu, Figen, Tacyildiz, Nurdan, Unal, Emel, Ikinciogullari, Aydan

Volltext

A novel mutation in the proteoglycan 4 gene causing CACP syndrome: two sisters report von Bağrul, İlknur, Ceylaner, Serdar, Yildiz, Yasemin Tasci, Tuncez, Serife, Aydin, Elif Arslanoglu, Bağlan, Esra, Ozdel, Semanur, Bülbül, Mehmet

Volltext

A Novel Pathogenic IGSF1 Variant in a Patient with GH and TSH Deficiency Diagnosed by High IGF-I Values at Transition to Adult Care von Kardelen, Aslı Derya, Karakılıç Özturan, Esin, Poyrazoğlu, Şükran, Baş, Firdevs, Ceylaner, Serdar, Joustra, Sjoerd D, Wit, Jan M, Darendeliler, Feyza

Volltext

Glucose-6-phosphate dehydrogenase gene Ala365Thr mutation in an Iraqi family with confusing clinical differences von Ardicoglu Akisin, Yasemin, Arslan, Zafer, Ceylaner, Serdar, Akar, Nejat

Volltext