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Journal of Clinical Research in Pediatric Endocrinology

IF1.5
论文数50
被引数1567
期刊论文 50
发表时间
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Clinical and Molecular Landscape of Weiss-Kruszka Syndrome: A Case Report and Literature ReviewWeiss-Kruszka综合征的临床与分子特征：病例报告与文献综述
deleteJournal of Clinical Research in Pediatric Endocrinology
IF1.5
delete2026-05-01
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PREAI
deleteLi, Lele; Gong, Chunxiu
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Xp21 Contiguous Gene Deletion Syndrome: Diagnosis, Treatment, and a Review of the Literature on a Rare Genetic DisorderXp21相邻基因缺失综合征：诊断、治疗及对该罕见遗传性疾病的文献综述
deleteJournal of Clinical Research in Pediatric Endocrinology
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deleteSingin, Berna; Donbaloglu, Zeynep; Cetiner, Ebru Barsal; Bedel, Aynur; Cetin, Kursat; Paksoy, Belgin Akcan; Kalkan, Tarkan; Akbas, Halide; Tuhan, Hale Unver; Parlak, Mesut
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Gonadoblastoma with Dysgerminoma in a Virilized Adolescent with Karyotype 46,XX: A Case Report and Review of the Literature性腺母细胞瘤伴无性细胞瘤发生在性化发育的青少年（核型46,XX）：病例报告及文献综述
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deleteKandemir, Tugce; Ozturan, Esin Karakilic; Dural, Ozlem; Aslanger, Ayca Dilruba; Balci, Elif Inan; Bayram, Aysel; Onder, Semen; Kardelen, Asli Derya; Yildiz, Melek; Poyrazoglu, Sukran; Bas, Firdevs; Darendeliler, Feyza
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Clinical and Molecular Landscape of Weiss-Kruszka Syndrome: A Case Report and Literature ReviewWeiss-Kruszka综合征的临床与分子景观：病例报告与文献综述
deleteJournal of Clinical Research in Pediatric Endocrinology
IF1.5
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deleteLi, Lele; Gong, Chunxiu
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A Rare Coexistence of Turner Syndrome and Mycosis Fungoides: A Case ReportTurner综合征与真菌样霉菌病罕见的共存：病例报告
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deleteDemirel, Ozge Bayrak; Karakilic-Ozturan, Esin; Atci, Tugba; Sari, Sule Ozturk; Baykal, Can; Kardelen, Asli Derya; Yildiz, Melek; Poyrazoglu, Sukran; Bas, Firdevs; Darendeliler, Feyza
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A Rare Cause of Proportional Short Stature and Puberty Precocity: Floating-Harbor Syndrome比例性矮身材和性早熟的一种罕见病因：浮港综合征
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deleteCetinkaya, Duygu; Buyukyilmaz, Gonul; Kilic, Esra
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Four Consecutive False Negative Newborn Screens in a Patient with Classical Congenital Adrenal Hyperplasia: A Case Report一例经典先天性肾上腺皮质增生症患者连续四次新生儿筛查假阴性：病例报告
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deleteRizzuto, Patrick; Gangat, Mariam; Khattab, Ahmed; Marshall, Ian
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Atypical Presentation of New Onset Diabetes with Hyperglycemic Hyperosmolar State in Two Toddlers两例幼儿新发糖尿病伴高血糖高渗状态的非典型表现
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deleteHaque, Alina; Bell-Sambataro, Esther E.; Patel, Foram; Mamilly, Leena; Obrynba, Kathryn; Ladd, Jennifer M.
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Hereditary Pheochromocytoma as a Major Manifestation of von Hippel Lindau Disease (vHL) in Childhood: Long-term Follow-up of Five Patients with vHL from One Family遗传性嗜铬细胞瘤作为儿童期von Hippel Lindau疾病（vHL）的主要表现——来自一个家族的5例vHL患者长期随访研究
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deletePasternak-Pietrzak, Katarzyna; Kozlowska, Agata; Moszczy, Elzbieta
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Unraveling a Genetic Puzzle: Could MAP3K7 Be a Candidate Gene for RASopathies?解开一个遗传学谜题：MAP3K7是否可能是RASopathies的候选基因？
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deleteCetin, Sirmen Kizilcan; Siklar, Zeynep; Aycan, Zehra; Ozsu, Elif; Ceylaner, Serdar; Berberoglu, Merih
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Thauvin-Robinet-Faivre Syndrome: A FIBP Variant in an Adolescent with Segmental Overgrowth and Thyroid Carcinoma陶文-罗比内特-法弗综合征：一例伴有节段性过度生长和甲状腺癌的FIBP变异青少年
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deleteSiraz, Ulku Gul; Gol, Deniz Kocak; Rohlfs, Meino; Klein, Christoph; Unal, Ekrem; Hatipoglu, Nihal
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A Rare Cause of Neonatal Salt Wasting Syndrome: Clinical Management of a Case Diagnosed with Pseudohypoaldosteronism due to a Novel Homozygous Variant in the SCNN1B Gene一种罕见的先天性失盐综合征病因：由于SCNN1B基因新型纯合变异导致的假性醛固酮减少症病例的临床管理
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deleteSingin, Berna; Donbaloglu, Zeynep; Cetiner, Ebru Barsal; Cetin, Kursat; Zarif, Nurten Ozkan; Celik, Kiymet; Mihci, Ercan; Clark, Ozden Altiok; Tuhan, Hale; Parlak, Mesut
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A Rare Presentation of 17α-Hydroxylase/17,20-Lyase Deficiency in a Patient with Non-Hodgkin's Lymphoma: A Case Report17α-羟化酶/17,20-裂解酶缺乏症的一种罕见表现：1例非霍奇金淋巴瘤患者的病例报告
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deleteTekkeli, Niran; Kurt, Ilknur; Yalman, Nevin; Timur, Cetin; Demir, Senol; Sagsak, Elif
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Associations of Urinary Metabolites of Parabens and Bisphenol a with Premature Thelarche among a Sample of Iranian Girls对伊朗女孩样本中对羟基苯甲酸酯和双酚A的尿代谢物与性早熟的相关性研究
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deleteMozafarian, Nafiseh; Hashemipour, Mahin; Maracy, Mohammad Reza; Galehdari, Hamid; Kelishadi, Roya
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Associations Between Dietary Diversity Score and Adiposity Indexes in Obese Adolescents肥胖青少年饮食多样性评分与体脂指数的相关性
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deleteBozbulut, Rukiye; Oktay, Mehmet Ali; Akcay, Ulan; Doger, Esra; Ugurlu, Aylin Kilinc; Camurdan, Mahmut Orhun; Bideci, Aysun
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Comparison of Methods used for Final Height Prediction in Patients with Central Precocious Puberty对中枢性性早熟患者终身高预测方法比较
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deleteTuran, Nisa Nur; Camas, Asan Onder; Cicek, Burcin; Hepokur, Merve Nur; Emeksiz, Hamdi Cihan
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Founder Pathogenic Variant in LMNA with Diverse Phenotypic Manifestations in Mandibuloacral Dysplasia: Insights from a Turkish CohortLMNA基因始祖致病变异在颌骨软骨发育不全中的多样表型表现：来自土耳其队列的见解
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deleteYigit, Zehra Manav; Altan, Mustafa; Tuzcu, Goksel; Bozkurt, Gokay; Anik, Ahmet
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Glucocorticoid Dose and Type are Associated with Depression Scores in Youth with Classical Congenital Adrenal Hyperplasia糖皮质激素剂量和类型与经典型先天性肾上腺皮质增生症青少年的抑郁评分相关
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deleteLiang, Mark Chih-Wei; Fraga, Nicole; Minaeian, Nare; Herting, Megan M.; Geffner, Mitchell E.; Bachega, Tania A. S. S.; Kim, Mimi S.
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Hyperinsulinemia in Sotos Syndrome with a de novo NSD1 Deletion索托斯综合征中伴新生NSD1基因缺失的高胰岛素血症
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deleteLundberg, Elena; Burstedt, Magnus; Golovleva, Irina
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Improving Diabetes Care Through Teamwork, Comprehensive Education, Tighter Goals, and Technology: Single-Center Data from Türkiye通过团队合作、全面教育、更严格目标和科技改善糖尿病护理：来自土耳其的单中心数据
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deleteEviz, Elif; Karakus, Kagan Ege; Gokce, Tugba; Can, Ecem; Mutlu, Gul Yesiltepe; Hatun, Sukru
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