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

Predictors of citations and altmetric scores in general surgery literature

普通外科文献引用量和替代计量评分的预测因素

Chaudhary, Divyansh; Acharya, Shubho; Aggarwal, Vaibhav; Huzaifa, Muhammed; Kain, Pratischtha; Garg, Richa; Harlalka, Khushi; Kumar, Sumit; Vasudev, Aaditya

Mutations in MINAR2 encoding membrane integral NOTCH2-associated receptor 2 cause deafness in humans and mice

MINAR2基因(编码膜整合型NOTCH2相关受体2)的突变会导致人类和小鼠耳聋。

Bademci, Guney; Lachgar-Ruiz, María; Deokar, Mangesh; Zafeer, Mohammad Faraz; Abad, Clemer; Yildirim Baylan, Muzeyyen; Ingham, Neil J; Chen, Jing; Sineni, Claire J; Vadgama, Nirmal; Karakikes, Ioannis; Guo, Shengru; Duman, Duygu; Singh, Nitu; Harlalka, Gaurav; Jain, Shirish P; Chioza, Barry A; Walz, Katherina; Steel, Karen P; Nasir, Jamal; Tekin, Mustafa

Evidence that the Ser192Tyr/Arg402Gln in cis Tyrosinase gene haplotype is a disease-causing allele in oculocutaneous albinism type 1B (OCA1B)

有证据表明,顺式酪氨酸酶基因单倍型 Ser192Tyr/Arg402Gln 是眼皮肤白化病 1B 型 (OCA1B) 的致病等位基因。

Lin, Siying; Sanchez-Bretaño, Aida; Leslie, Joseph S; Williams, Katie B; Lee, Helena; Thomas, N Simon; Callaway, Jonathan; Deline, James; Ratnayaka, J Arjuna; Baralle, Diana; Schmitt, Melanie A; Norman, Chelsea S; Hammond, Sheri; Harlalka, Gaurav V; Ennis, Sarah; Cross, Harold E; Wenger, Olivia; Crosby, Andrew H; Baple, Emma L; Self, Jay E

Biallelic variants in TRAPPC10 cause a microcephalic TRAPPopathy disorder in humans and mice

TRAPPC10 的双等位基因变异导致人类和小鼠患上小头畸形 TRAPP 病

Lettie E Rawlins, Hashem Almousa, Shazia Khan, Stephan C Collins, Miroslav P Milev, Joseph Leslie, Djenann Saint-Dic, Valeed Khan, Ana Maria Hincapie, Jacob O Day, Lucy McGavin, Christine Rowley, Gaurav V Harlalka, Valerie E Vancollie, Wasim Ahmad, Christopher J Lelliott, Asma Gul, Binnaz Yalcin, An

MNS1 variant associated with situs inversus and male infertility

MNS1变异与内脏反位和男性不育有关

Leslie, Joseph S; Rawlins, Lettie E; Chioza, Barry A; Olubodun, Oluwaseun R; Salter, Claire G; Fasham, James; Jones, Hannah F; Cross, Harold E; Lam, Simon; Harlalka, Gaurav V; Muggenthaler, Martina M A; Crosby, Andrew H; Baple, Emma L

SRRF-Stream Imaging of Optogenetically Controlled Furrow Formation Shows Localized and Coordinated Endocytosis and Exocytosis Mediating Membrane Remodeling

SRRF-Stream成像技术揭示了光遗传学控制的沟槽形成过程中局部且协调的内吞作用和外吞作用介导的膜重塑

Castillo-Badillo, Jean A; Bandi, Anoop C; Harlalka, Suyash; Gautam, N

Copy number variation of LINGO1 in familial dystonic tremor

家族性肌张力障碍性震颤中LINGO1的拷贝数变异

Alakbarzade, Vafa; Iype, Thomas; Chioza, Barry A; Singh, Royana; Harlalka, Gaurav V; Hardy, Holly; Sreekantan-Nair, Ajith; Proukakis, Christos; Peall, Kathryn; Clark, Lorraine N; Caswell, Richard; Lango Allen, Hana; Wakeling, Matthew; Chilton, John K; Baple, Emma L; Louis, Elan D; Warner, Thomas T; Crosby, Andrew H

Novel nonsense variants in SLURP1 and DSG1 cause palmoplantar keratoderma in Pakistani families

巴基斯坦家族中SLURP1和DSG1基因的新型无义突变导致掌跖角化症

Akbar, Abida; Prince, Claire; Payne, Chloe; Fasham, James; Ahmad, Wasim; Baple, Emma L; Crosby, Andrew H; Harlalka, Gaurav V; Gul, Asma

Homozygous variants in the HEXB and MBOAT7 genes underlie neurological diseases in consanguineous families

HEXB 和 MBOAT7 基因的纯合变异是近亲结婚家族神经系统疾病的病因。

Khan, Shazia; Rawlins, Lettie E; Harlalka, Gaurav V; Umair, Muhammad; Ullah, Asmat; Shahzad, Shaheen; Javed, Muhammad; Baple, Emma L; Crosby, Andrew H; Ahmad, Wasim; Gul, Asma

Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa

与常染色体隐性视网膜色素变性相关的细胞内氯通道 CLCC1 突变

Lin Li, Xiaodong Jiao, Ilaria D'Atri, Fumihito Ono, Ralph Nelson, Chi-Chao Chan, Naoki Nakaya, Zhiwei Ma, Yan Ma, Xiaoying Cai, Longhua Zhang, Siying Lin, Abdul Hameed, Barry A Chioza, Holly Hardy, Gavin Arno, Sarah Hull, Muhammad Imran Khan, James Fasham, Gaurav V Harlalka, Michel Michaelides, Anth