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

Biallelic variants in KYNU cause a multisystemic syndrome with hand hyperphalangism

KYNU基因的双等位基因变异会导致一种伴有手部指骨过度发育的多系统综合征。

Ehmke, Nadja; Cusmano-Ozog, Kristina; Koenig, Rainer; Holtgrewe, Manuel; Nur, Banu; Mihci, Ercan; Babcock, Holly; Gonzaga-Jauregui, Claudia; Overton, John D; Xiao, Jing; Martinez, Ariel F; Muenke, Maximilian; Balzer, Alexander; Jochim, Judith; El Choubassi, Naji; Fischer-Zirnsak, Björn; Huber, Céline; Kornak, Uwe; Elsea, Sarah H; Cormier-Daire, Valérie; Ferreira, Carlos R

SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects

SLC10A7 突变导致由 GAG 生物合成缺陷介导的骨骼发育不良和牙釉质形成不全

Johanne Dubail, Céline Huber, Sandrine Chantepie, Stephan Sonntag, Beyhan Tüysüz, Ercan Mihci, Christopher T Gordon, Elisabeth Steichen-Gersdorf, Jeanne Amiel, Banu Nur, Irene Stolte-Dijkstra, Albertien M van Eerde, Koen L van Gassen, Corstiaan C Breugem, Alexander Stegmann, Caroline Lekszas, Reza M

MPZL2 is a novel gene associated with autosomal recessive nonsyndromic moderate hearing loss

MPZL2 是一种与常染色体隐性无综合征中度听力损失相关的新基因

Guney Bademci, Clemer Abad, Armagan Incesulu, Abolfazl Rad, Ozgul Alper, Susanne M Kolb, Filiz B Cengiz, Oscar Diaz-Horta, Fatma Silan, Ercan Mihci, Emre Ocak, Maryam Najafi, Reza Maroofian, Elanur Yilmaz, Banu G Nur, Duygu Duman, Shengru Guo, David W Sant, Gaofeng Wang, Paula V Monje, Thomas Haaf, 

Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies.

Schinzel-Giedion 综合征和血液系统恶性肿瘤中 SETBP1 功能获得性突变的重叠

Acuna-Hidalgo Rocio, Deriziotis Pelagia, Steehouwer Marloes, Gilissen Christian, Graham Sarah A, van Dam Sipko, Hoover-Fong Julie, Telegrafi Aida B, Destree Anne, Smigiel Robert, Lambie Lindsday A, Kayserili Hülya, Altunoglu Umut, Lapi Elisabetta, Uzielli Maria Luisa, Aracena Mariana, Nur Banu G, Mihci Ercan, Moreira Lilia M A, Borges Ferreira Viviane, Horovitz Dafne D G, da Rocha Katia M, Jezela-Stanek Aleksandra, Brooks Alice S, Reutter Heiko, Cohen Julie S, Fatemi Ali, Smitka Martin, Grebe Theresa A, Di Donato Nataliya, Deshpande Charu, Vandersteen Anthony, Marques Lourenço Charles, Dufke Andreas, Rossier Eva, Andre Gwenaelle, Baumer Alessandra, Spencer Careni, McGaughran Julie, Franke Lude, Veltman Joris A, De Vries Bert B A, Schinzel Albert, Fisher Simon E, Hoischen Alexander, van Bon Bregje W

Natural History of Congenital Generalized Lipodystrophy: A Nationwide Study From Turkey

先天性全身性脂肪营养不良的自然史:一项来自土耳其的全国性研究

Akinci, Baris; Onay, Huseyin; Demir, Tevfik; Ozen, Samim; Kayserili, Hulya; Akinci, Gulcin; Nur, Banu; Tuysuz, Beyhan; Nuri Ozbek, Mehmet; Gungor, Adem; Yildirim Simsir, Ilgin; Altay, Canan; Demir, Leyla; Simsek, Enver; Atmaca, Murat; Topaloglu, Haluk; Bilen, Habib; Atmaca, Hulusi; Atik, Tahir; Cavdar, Umit; Altunoglu, Umut; Aslanger, Ayca; Mihci, Ercan; Secil, Mustafa; Saygili, Fusun; Comlekci, Abdurrahman; Garg, Abhimanyu

Wolcott-Rallison syndrome due to a novel mutation (R491X) in EIF2AK3 gene

沃尔科特-拉利森综合征是由EIF2AK3基因中的一种新突变(R491X)引起的

Mihci, Ercan; Türkkahraman, Doğa; Ellard, Sian; Akçurin, Sema; Bircan, Iffet

Mosaic Intrachromosomal Triplication of (12)(p11.2p13) in a Patient with Pallister-Killian Syndrome

帕利斯特-基利安综合征患者的(12)(p11.2p13)染色体内嵌合三倍体

Yakut, S; Mihci, E; Altiok Clark, O; Cetin, Z; Keser, I; Berker, S; Luleci, G

Homozygous inactivating mutations in the NKX3-2 gene result in spondylo-megaepiphyseal-metaphyseal dysplasia

NKX3-2基因的纯合失活突变会导致脊椎骨骺-干骺端发育不良

Hellemans, Jan; Simon, Marleen; Dheedene, Annelies; Alanay, Yasemin; Mihci, Ercan; Rifai, Laila; Sefiani, Abdelaziz; van Bever, Yolande; Meradji, Morteza; Superti-Furga, Andrea; Mortier, Geert

SNP array mapping of chromosome 20p deletions: genotypes, phenotypes, and copy number variation

20p染色体缺失的SNP芯片定位:基因型、表型和拷贝数变异

Kamath, Binita M; Thiel, Brian D; Gai, Xiaowu; Conlin, Laura K; Munoz, Pedro S; Glessner, Joseph; Clark, Dinah; Warthen, Daniel M; Shaikh, Tamim H; Mihci, Ercan; Piccoli, David A; Grant, Struan F A; Hakonarson, Hakon; Krantz, Ian D; Spinner, Nancy B

Prevalence of peripheral arterial disease in high-risk patients using ankle-brachial index in general practice: a cross-sectional study

在全科医疗中,利用踝臂指数评估高危患者外周动脉疾病患病率的横断面研究

Cacoub, P; Cambou, J-P; Kownator, S; Belliard, J-P; Beregi, J-P; Branchereau, A; Carpentier, P; Léger, P; Luizy, F; Maïza, D; Mihci, E; Herrmann, M-A; Priollet, P