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プロフィール詳細
Noor Ul Ain ..に依頼
Pakistan
Molecular Biology & Genetics Expert | Sanger, NGS, Rare Disease Research & Diagnostic Test Development
プロフィール概要
専門分野
サービス
Writing
Medical Writing,
Non-Medical Regulatory Writing,
Technical Writing,
Creative Writing,
General Proofreading & Editing,
Translation
Research
Scientific and Technical Research,
Systematic Literature Review
Consulting
Scientific and Technical Consulting
Data & AI
Predictive Modeling,
Data Processing
Product Development
Recipe Development
職務経験
Scientist II / Senior Scientist
IBGE
3月 2017 - 現在
学歴
PhD (School of Biological Sciences)
University of the Punjab
2014 - 2022 ![]()
MPhil
University of the Punjab
10月 2011 - 8月 2013
M.Sc Biochemistry
PMAS Arid Agriculture University
10月 2008 - 8月 2010
BSc
University of the Punjab
10月 2005 - 9月 2008
認定資格
出版物
JOURNAL ARTICLE
Shakeel M, Irfan M, Nisa ZU, Farooq S, Ain NU, Iqbal W, Kakar N, Jahan S, Shahzad M, Siddiqi S, et al. (2022). Genome sequencing and analysis of genomic diversity in the locally transmitted SARS-CoV-2 in Pakistan . Transboundary and emerging diseases.
Shakeel, M., Irfan, M., Nisa, Z.U., Farooq, S., Ain, N.U., Iqbal, W., Kakar, N., Jahan, S., Shahzad, M., Siddiqi, S., et al.(2022). Genome sequencing and analysis of genomic diversity in the locally transmitted SARS-CoV-2 in Pakistan . Transboundary and Emerging Diseases. 69. (5). Microsoft.AspNetCore.Mvc.Localization.LocalizedHtmlString e2418-e2430.
Reilly, M.L., Ain, N.U., Muurinen, M., Tata, A., Huber, C., Simon, M., Ishaq, T., Shaw, N., Rusanen, S., Pekkinen, M., et al.(2022). Biallelic KIF24 Variants Are Responsible for a Spectrum of Skeletal Disorders Ranging From Lethal Skeletal Ciliopathy to Severe Acromesomelic Dysplasia . Journal of Bone and Mineral Research.
Kausar, M., Ain, N.U., Hayat, F., Fatima, H., Azim, S., Ullah, H., Mushtaq, M., Khalid, S., Hussain, S., Naz, S., et al.(2022). Biallelic variants in CHST3 cause Spondyloepiphyseal dysplasia with joint dislocations in three Pakistani kindreds . BMC Musculoskeletal Disorders. 23. (1).
Ain, N.U., Muhammad, N., Dianatpour, M., Baroncelli, M., Iqbal, M., Fard, M.A.F., Bukhari, I., Ahmed, S., Hajipour, M., Tabatabaie, Z., et al.(2021). Biallelic TMEM251 variants in patients with severe skeletal dysplasia and extreme short stature . Human Mutation. 42. (1). Microsoft.AspNetCore.Mvc.Localization.LocalizedHtmlString 89-101.
Nian, L., Zhang, X., Yi, X., Liu, X., Ain, N., Yang, Y., Li, X., Haider, F.U., Zhu, X.(2021). Genome-wide identification of ABA receptor PYL/RCAR gene family and their response to cold stress in Medicago sativa L . Physiology and Molecular Biology of Plants. 27. (9). Microsoft.AspNetCore.Mvc.Localization.LocalizedHtmlString 1979-1995.
Ain, N.U., Baroncelli, M., Costantini, A., Ishaq, T., Taylan, F., Nilsson, O., Mäkitie, O., Naz, S.(2021). Novel form of rhizomelic skeletal dysplasia associated with a homozygous variant in GNPNAT1 . Journal of Medical Genetics. 58. (5). Microsoft.AspNetCore.Mvc.Localization.LocalizedHtmlString 351-356.
Ain, N., Fatima, Z., Naz, S., Makitie, O.(2021). RAB33B and PCNT variants in two Pakistani families with skeletal dysplasia and short stature . BMC Musculoskeletal Disorders. 22. (1).
Noor ul Ain, Niaz Muhammad, Samina Yasin, Zunaira Fatima, Muhammad Faizan, Sadaf Naz(2021). The c.1138G>A Variant of Fibroblast Growth Factor Receptor 3 is a Common Cause of Achondroplasia in Pakistan . Pakistan Journal of Zoology. 53. (6). {ResearchersLinks} Ltd
Noor ul Ain, Madeline Louise Reilly, Mari Muurinen, Alice Tata, Céline Huber, Marleen Simon, Tayyaba Ishaq, Nick Shaw, Salla Rusanen, Minna Pekkinen, et al. (2020). Biallelic KIF24 Variants Are Responsible for a Spectrum of Skeletal Disorders Ranging From Lethal Skeletal Ciliopathy to Severe Acromesomelic Dysplasia . Journal of Bone and Mineral Research.
Ain, N.U., Abrar, S., Sherwani, R.A.K., Hannan, A., Imran, N., Riaz, S.(2020). Systematic surveillance and meta-analysis on the prevalence of metallo-β-lactamase producers among carbapenem resistant clinical isolates in Pakistan . Journal of Global Antimicrobial Resistance. 23. Microsoft.AspNetCore.Mvc.Localization.LocalizedHtmlString 55-63.
Ain, N.U., Iqbal, M., Valta, H., Emerling, C.A., Ahmed, S., Makitie, O., Naz, S.(2019). Novel variants in natriuretic peptide receptor 2 in unrelated patients with acromesomelic dysplasia type Maroteaux . European Journal of Medical Genetics. 62. (9).
Costantini A, Tournis S, Kämpe A, Ul Ain N, Taylan F, Doulgeraki A, Mäkitie O (2018). Autosomal Recessive Osteogenesis Imperfecta Caused by a Novel Homozygous COL1A2 Mutation . Calcified tissue international.
Ain, N.U., Makitie, O., Naz, S.(2018). Autosomal recessive chondrodysplasia with severe short stature caused by a biallelic COL10A1 variant . Journal of medical genetics. 55. (6). Microsoft.AspNetCore.Mvc.Localization.LocalizedHtmlString 403-407.
John, P., Bhatti, A., Ain, N.U., Iqbal, T., Sadaf, T., Malik, J.M.(2017). Case‐control study of vitamin D receptor gene polymorphism in Pakistani rheumatoid arthritis patients,Estudo caso‐controle do polimorfismo do gene receptor da vitamina D em pacientes paquistaneses com artrite reumatoide . Revista Brasileira de Reumatologia. 57. (6). Microsoft.AspNetCore.Mvc.Localization.LocalizedHtmlString 633-636.
Ramzan, M., Ain, N.U., Ilyas, S., Umer, M., Bano, S., Sarwar, S., Shahzad, N., Shakoori, A.R.(2015). A cornucopia of screening and diagnostic techniques for human papillomavirus associated cervical carcinomas . Journal of Virological Methods. 222. Microsoft.AspNetCore.Mvc.Localization.LocalizedHtmlString 192-201.
REVIEW