日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Bi-allelic loss-of-function variants in JKAMP cause a neurodevelopmental syndrome associated with dysregulation of GPR37 trafficking.

JKAMP 的双等位基因功能丧失变异会导致与 GPR37 运输失调相关的神经发育综合征。

Chacon-Millan Pilar, Delicato Antonella, Mahmood Arif, Tirozzi Alfonsina, Monfregola Jlenia, Duroure Karine, Serafini Malo, Kroll François, El-Hage Océane, Salah Somaya, Atawneh Osama M, Atik Tahir, Durmusalioglu Enise Avcı, Isik Esra, Almontashiri Naif A M, Tabarki Brahim, Kanaan Moien, Rabie Grace, Torella Annalaura, Spampanato Carmine, Battaglia Domenica Immacolata, Begemann Anais, Steindl Katharina, Rauch Anita, Zweier Markus, Hajianpour Mj, Brigatti Karlla W, Alhashem Amal, Maroofian Reza, Feigerlova Eva, Lambert Laetitia, Feillet Francois, Abbott Mary-Alice, D'Alessio Alfonso Manuel, Gonzaga-Jauregui Claudia, Tawk Marcel, De Matteis Maria Antonietta, Del Bene Filippo, Zollino Marcella, Nigro Vincenzo, Venditti Rossella, Franco Brunella, Morleo Manuela

Diagnostic Utility of Next-Generation Sequencing-based CNV Analysis in Eleven Patients with Peters-Plus Syndrome: A Single-Center Experience

基于二代测序的拷贝数变异分析在11例Peters-Plus综合征患者诊断中的应用:单中心经验

Akalın, Akçahan; Avcı Durmuşalioğlu, Enise; Özkalkak, Şervan; Yıldırım, Ruken; Öz, Veysel; Ünal, Edip; Hazar, Leyla; Turkut Tan, Türkan; Doğan, Yusuf Can; Atik, Tahir; Çoğulu, Özgür; Işık, Esra

A Rare Cause of Acute Pancreatitis: Two Siblings With Werner Syndrome

急性胰腺炎的罕见病因:两名患有沃纳综合征的兄弟姐妹

Sakar, Kenan; Akinci, Baris; Simsir, Ilgin Yildirim; Atik, Tahir; Akbaba, Gulhan; Cinar, Nese

Genetic heterogeneity in hereditary hearing loss: Potential role of kinociliary protein TOGARAM2.

遗传性听力损失的遗传异质性:纤毛运动蛋白 TOGARAM2 的潜在作用

Ramzan Memoona, Zafeer Mohammad Faraz, Abad Clemer, Guo Shengru, Owrang Daniel, Alper Ozgul, Mutlu Ahmet, Atik Tahir, Duman Duygu, Bademci Guney, Vona Barbara, Kalcioglu Mahmut Tayyar, Walz Katherina, Tekin Mustafa

Diagnostic yield of exome sequencing-based copy number variation analysis in Mendelian disorders: a clinical application

基于外显子组测序的拷贝数变异分析在孟德尔遗传病诊断中的应用:一项临床应用

Atik, Tahir; Avci Durmusalioglu, Enise; Isik, Esra; Kose, Melis; Kanmaz, Seda; Aykut, Ayca; Durmaz, Asude; Ozkinay, Ferda; Cogulu, Ozgur

Molecular Genetic Diagnosis with Targeted Next Generation Sequencing in a Cohort of Turkish Osteogenesis Imperfecta Patients and their Genotype-phenotype Correlation

利用靶向二代测序技术对土耳其成骨不全患者队列进行分子遗传学诊断及其基因型-表型相关性分析

Özen, Samim; Gökşen, Damla; Evin, Ferda; Işık, Esra; Onay, Hüseyin; Akgün, Bilçağ; Ata, Aysun; Atik, Tahir; Düzcan, Füsun; Özkınay, Ferda; Darcan, Şükran; Çoğulu, Özgür

Dual Diagnosis of Trichohepatoenteric Syndrome and Lipoid Proteinosis in a Turkish Child

土耳其儿童同时诊断为毛发肝肠综合征和类脂蛋白沉积症

Eser, Hatice Ceren; Ayyildiz Emecen, Durdugul; Topyildiz, Ezgi; Isik, Esra; Edeer Karaca, Neslihan; Atik, Tahir; Aksu, Guzide; Ozkınay, Ferda; Kutukculer, Necil

Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C

由POLR3A、POLR3B和POLR1C基因变异引起的4H脑白质营养不良的内分泌和生长异常

Pelletier, Félixe; Perrier, Stefanie; Cayami, Ferdy K; Mirchi, Amytice; Saikali, Stephan; Tran, Luan T; Ulrick, Nicole; Guerrero, Kether; Rampakakis, Emmanouil; van Spaendonk, Rosalina M L; Naidu, Sakkubai; Pohl, Daniela; Gibson, William T; Demos, Michelle; Goizet, Cyril; Tejera-Martin, Ingrid; Potic, Ana; Fogel, Brent L; Brais, Bernard; Sylvain, Michel; Sébire, Guillaume; Lourenço, Charles Marques; Bonkowsky, Joshua L; Catsman-Berrevoets, Coriene; Pinto, Pedro S; Tirupathi, Sandya; Strømme, Petter; de Grauw, Ton; Gieruszczak-Bialek, Dorota; Krägeloh-Mann, Ingeborg; Mierzewska, Hanna; Philippi, Heike; Rankin, Julia; Atik, Tahir; Banwell, Brenda; Benko, William S; Blaschek, Astrid; Bley, Annette; Boltshauser, Eugen; Bratkovic, Drago; Brozova, Klara; Cimas, Icíar; Clough, Christopher; Corenblum, Bernard; Dinopoulos, Argirios; Dolan, Gail; Faletra, Flavio; Fernandez, Raymond; Fletcher, Janice; Garcia Garcia, Maria Eugenia; Gasparini, Paolo; Gburek-Augustat, Janina; Gonzalez Moron, Dolores; Hamati, Aline; Harting, Inga; Hertzberg, Christoph; Hill, Alan; Hobson, Grace M; Innes, A Micheil; Kauffman, Marcelo; Kirwin, Susan M; Kluger, Gerhard; Kolditz, Petra; Kotzaeridou, Urania; La Piana, Roberta; Liston, Eriskay; McClintock, William; McEntagart, Meriel; McKenzie, Fiona; Melançon, Serge; Misbahuddin, Anjum; Suri, Mohnish; Monton, Fernando I; Moutton, Sebastien; Murphy, Raymond P J; Nickel, Miriam; Onay, Hüseyin; Orcesi, Simona; Özkınay, Ferda; Patzer, Steffi; Pedro, Helio; Pekic, Sandra; Pineda Marfa, Mercedes; Pizzino, Amy; Plecko, Barbara; Poll-The, Bwee Tien; Popovic, Vera; Rating, Dietz; Rioux, Marie-France; Rodriguez Espinosa, Norberto; Ronan, Anne; Ostergaard, John R; Rossignol, Elsa; Sanchez-Carpintero, Rocio; Schossig, Anna; Senbil, Nesrin; Sønderberg Roos, Laura K; Stevens, Cathy A; Synofzik, Matthis; Sztriha, László; Tibussek, Daniel; Timmann, Dagmar; Tonduti, Davide; van de Warrenburg, Bart P; Vázquez-López, Maria; Venkateswaran, Sunita; Wasling, Pontus; Wassmer, Evangeline; Webster, Richard I; Wiegand, Gert; Yoon, Grace; Rotteveel, Joost; Schiffmann, Raphael; van der Knaap, Marjo S; Vanderver, Adeline; Martos-Moreno, Gabriel Á; Polychronakos, Constantin; Wolf, Nicole I; Bernard, Geneviève

A New Cause of Obesity Syndrome Associated with a Mutation in the Carboxypeptidase Gene Detected in Three Siblings with Obesity, Intellectual Disability and Hypogonadotropic Hypogonadism

在三名患有肥胖症、智力障碍和低促性腺激素性性腺功能减退症的兄弟姐妹中,检测到一种与羧肽酶基因突变相关的肥胖综合征新病因。

Durmaz, Asude; Aykut, Ayça; Atik, Tahir; Özen, Samim; Ayyıldız Emecen, Durdugül; Ata, Aysun; Işık, Esra; Gökşen, Damla; Çoğulu, Özgür; Özkınay, Ferda

Melanocortin 4 receptor (MC4R) gene variants in children and adolescents having familial early-onset obesity: genetic and clinical characteristics

家族性早发性肥胖儿童和青少年中黑皮质素4受体(MC4R)基因变异:遗传和临床特征

Aykut, Ayça; Özen, Samim; Gökşen, Damla; Ata, Aysun; Onay, Hüseyin; Atik, Tahir; Darcan, Şükran; Özkinay, Ferda