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

Loss of ANK3 Function Causes a Recessive Neurodevelopmental Disorder with Cerebellar Ataxia

ANK3功能丧失会导致一种伴有小脑共济失调的隐性神经发育障碍。

Maroofian, Reza; Spoto, Giulia; Moualek, Dalila; Zaki, Maha S; Biswas, Asthik; D'Arco, Felice; Biglari, Sajjad; Nikuei, Pooneh; Gleeson, Joseph G; Tazir, Meriem; Ali Pacha, Lamia; Houlden, Henry

Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population

下一代测序技术在伊朗人群孟德尔遗传病诊断中的临床应用

Abolhassani, Ayda; Fattahi, Zohreh; Beheshtian, Maryam; Fadaee, Mahsa; Vazehan, Raheleh; Ahangari, Fatemeh; Dehdahsi, Shima; Faraji Zonooz, Mehrshid; Parsimehr, Elham; Kalhor, Zahra; Peymani, Fatemeh; Mozaffarpour Nouri, Maryam; Babanejad, Mojgan; Noudehi, Khadijeh; Fatehi, Fatemeh; Zamanian Najafabadi, Shima; Afroozan, Fariba; Yazdan, Hilda; Bozorgmehr, Bita; Azarkeivan, Azita; Sadat Mahdavi, Shokouh; Nikuei, Pooneh; Fatehi, Farzad; Jamali, Payman; Ashrafi, Mahmoud Reza; Karimzadeh, Parvaneh; Habibi, Haleh; Kahrizi, Kimia; Nafissi, Shahriar; Kariminejad, Ariana; Najmabadi, Hossein

Prenatal diagnosis of Sex determining region Y -box transcription factor 2 anophthalmia syndrome caused by germline mosaicism using next-generation sequencing: A case report

利用新一代测序技术对生殖系嵌合体引起的性别决定区Y盒转录因子2无眼症进行产前诊断:病例报告

Nikuei, Pooneh; Ph D; Khashavy, Zahra; Ali Farazi Fard, Mohammad; Tabasi, Shahrzad; Zeidi B Sc Student, Ari; Pourkashani, Parnian; Tabatabaei, Zahra; Eftekhar, Ebrahim; Saberi, Mozhgan; Mahjoubi, Frouzandeh

Increased expression level of Dicer in placenta is associated with the early onset of preeclampsia

胎盘中Dicer表达水平升高与先兆子痫的早期发作有关

Mohseni, Fatemeh; Shekari, Mohammad; Malekzadeh, Kianoosh; Nikuei, Pooneh; Poordarvish, Fatemeh; Atashabparvar, Ali; Bamdad, Kourosh

Biallelic variants in TMEM222 cause a new autosomal recessive neurodevelopmental disorder

TMEM222 中的双等位基因变异导致一种新的常染色体隐性神经发育障碍

Daniel L Polla #, Mohammad Ali Farazi Fard #, Zahra Tabatabaei, Parham Habibzadeh, Olga A Levchenko, Pooneh Nikuei, Periklis Makrythanasis, Mureed Hussain, Sandra von Hardenberg, Sirous Zeinali, Mohammad-Sadegh Fallah, Janneke H M Schuurs-Hoeijmakers, Mohsin Shahzad, Fareeha Fatima, Neelam Fatima, L

Diagnostic accuracy of sFlt1/PlGF ratio as a marker for preeclampsia

sFlt1/PlGF 比率作为先兆子痫标志物的诊断准确性

Pooneh Nikuei, Minoo Rajaei, Nasibeh Roozbeh, Fatemeh Mohseni, Fatemeh Poordarvishi, Mohsen Azad, Solmaz Haidari

Pre-implantation genetic diagnosis in an Iranian family with a novel mutation in MUT gene

对一个伊朗家族进行植入前遗传学诊断,该家族携带MUT基因的新突变

Habibzadeh, Parham; Tabatabaei, Zahra; Farazi Fard, Mohammad Ali; Jamali, Laila; Hafizi, Aazam; Nikuei, Pooneh; Salarian, Leila; Nasr Esfahani, Mohammad Hossein; Anvar, Zahra; Faghihi, Mohammad Ali

Distinct genetic variation and heterogeneity of the Iranian population

伊朗人群独特的遗传变异和异质性

Mehrjoo, Zohreh; Fattahi, Zohreh; Beheshtian, Maryam; Mohseni, Marzieh; Poustchi, Hossein; Ardalani, Fariba; Jalalvand, Khadijeh; Arzhangi, Sanaz; Mohammadi, Zahra; Khoshbakht, Shahrouz; Najafi, Farid; Nikuei, Pooneh; Haddadi, Mohammad; Zohrehvand, Elham; Oladnabi, Morteza; Mohammadzadeh, Akbar; Jafari, Mandana Hadi; Akhtarkhavari, Tara; Gooshki, Ehsan Shamsi; Haghdoost, Aliakbar; Najafipour, Reza; Niestroj, Lisa-Marie; Helwing, Barbara; Gossmann, Yasmina; Toliat, Mohammad Reza; Malekzadeh, Reza; Nürnberg, Peter; Kahrizi, Kimia; Najmabadi, Hossein; Nothnagel, Michael

Accuracy of Soluble Endoglin for Diagnosis of Preeclampsia and its Severity

可溶性内皮糖蛋白在先兆子痫及其严重程度诊断中的准确性

Nikuei, Pooneh; Rajaei, Minoo; Malekzadeh, Kianoosh; Nejatizadeh, Azim; Mohseni, Fatemeh; AtashAbParvar, Ali