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Variants of NAV3, a neuronal morphogenesis protein, cause intellectual disability, developmental delay, and microcephaly Ghaffar, Amama; Akhter, Tehmeena; Stromme, Petter; Misceo, Doriana; Khan, Amjad; Frengen, Eirik; Umair, Muhammad; Isidor, Bertrand; Cogne, Benjamin; Khan, Asma A.; Bruel, Ange-Line; Sorlin, Arthur; Kuentz, Paul; Chiaverini, Christine; Innes, A. Micheil; Zech, Michael; Balaz, Marek; Havrankova, Petra; Jech, Robert; Ahmed, Zubair M.; Riazuddin, Sheikh; Riazuddin, Saima 分享 收藏
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Cassia Angustifolia Primed ASCs Accelerate Burn Wound Healing by Modulation of Inflammatory Response Tasneem, Saba; Ghufran, Hafiz; Azam, Maryam; Arif, Amna; Bin Umair, Musab; Yousaf, Muhammad Amin; Shahzad, Khurrum; Mehmood, Azra; Malik, Kausar; Riazuddin, Sheikh 分享 收藏
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Zinc oxide loaded chitosan-elastin-sodium alginate nanocomposite gel using freeze gelation for enhanced adipose stem cell proliferation and antibacterial properties Ramzan, Amna; Mehmood, Azra; Ashfaq, Ramla; Andleeb, Anisa; Butt, Hira; Zulfiqar, Saima; Nasir, Muhammad; Hasan, Anwarul; Khalid, Kamran; Yar, Muhammad; Malik, Kausar; Riazuddin, Sheikh 分享 收藏
Priming with caffeic acid enhances the potential and survival ability of human adipose-derived stem cells to counteract hypoxia ul Haq, H. M. Shifa; Ashfaq, Ramla; Mehmood, Azra; Shahid, Warda; Azam, Ghufran; Azam, Maryam; Tasneem, Saba; Akram, Shehla Javed; Malik, Kausar; Riazuddin, Sheikh 分享 收藏
Hydrogel patch with pretreated stem cells accelerates wound closure in diabetic rats Andleeb, Anisa; Mehmood, Azra; Tariq, Muhammad; Butt, Hira; Ahmed, Rashid; Andleeb, Aneeta; Ghufran, Hafiz; Ramzan, Amna; Ejaz, Asim; Malik, Kausar; Riazuddin, Sheikh 分享 收藏
Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma Rauf, Bushra; Khan, Shahid Y.; Jiao, Xiaodong; Irum, Bushra; Ashfaq, Ramla; Zehra, Mubashra; Khan, Asma A.; Naeem, Muhammad Asif; Shahzad, Mohsin; Riazuddin, Sheikh; Hejtmancik, J. Fielding; Riazuddin, S. Amer 分享 收藏
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New insights into Perrault syndrome, a clinically and genetically heterogeneous disorder 对Perrault综合征的新见解，这是一种临床和遗传异质性疾病 Faridi, Rabia; Rea, Alessandro; Fenollar-Ferrer, Cristina; O'Keefe, Raymond T.; Gu, Shoujun; Munir, Zunaira; Khan, Asma Ali; Riazuddin, Sheikh; Hoa, Michael; Naz, Sadaf; Newman, William G.; Friedman, Thomas B. 分享 收藏
De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy Usmani, Muhammad A.; Ahmed, Zubair M.; Magini, Pamela; Pienkowski, Victor Murcia; Rasmussen, Kristen J.; Hernan, Rebecca; Rasheed, Faiza; Hussain, Mureed; Shahzad, Mohsin; Lanpher, Brendan C.; Niu, Zhiyv; Lim, Foong-Yen; Pippucci, Tommaso; Ploski, Rafal; Kraus, Verena; Matuszewska, Karolina; Palombo, Flavia; Kianmahd, Jessica; Martinez-Agosto, Julian A.; Lee, Hane; Colao, Emma; Motazacker, M. Mahdi; Brigatti, Karlla W.; Puffenberger, Erik G.; Riazuddin, S. Amer; Gonzaga-Jauregui, Claudia; Chung, Wendy K.; Wagner, Matias; Schultz, Matthew J.; Seri, Marco; Kievit, Anneke J. A.; Perrotti, Nicola; Wassink-Ruiter, J. S. Klein; van Bokhoven, Hans; Riazuddin, Sheikh; Riazuddin, Saima 分享 收藏
Biallelic variants in TMEM222 cause a new autosomal recessive neurodevelopmental disorder Polla, Daniel L.; Farazi Fard, Mohammad Ali; Tabatabaei, Zahra; Habibzadeh, Parham; Levchenko, Olga A.; Nikuei, Pooneh; Makrythanasis, Periklis; Hussain, Mureed; von Hardenberg, Sandra; Zeinali, Sirous; Fallah, Mohammad-Sadegh; Schuurs-Hoeijmakers, Janneke H. M.; Shahzad, Mohsin; Fatima, Fareeha; Fatima, Neelam; Kaat, Laura Donker; Bruggenwirth, Hennie T.; Fleming, Leah R.; Condie, John; Ploski, Rafal; Pollak, Agnieszka; Pilch, Jacek; Demina, Nina A.; Chukhrova, Alena L.; Sergeeva, Vasilina S.; Venselaar, Hanka; Masri, Amira T.; Hamamy, Hanan; Santoni, Federico A.; Linda, Katrin; Ahmed, Zubair M.; Nadif Kasri, Nael; de Brouwer, Arjan P. M.; Bergmann, Anke K.; Hethey, Sven; Yavarian, Majid; Ansar, Muhammad; Riazuddin, Saima; Riazuddin, Sheikh; Silawi, Mohammad; Ruggeri, Gaia; Pirozzi, Filomena; Eftekhar, Ebrahim; Taghipour Sheshdeh, Afsaneh; Bahramjahan, Shima; Mirzaa, Ghayda M.; Lavrov, Alexander V.; Antonarakis, Stylianos E.; Faghihi, Mohammad Ali; van Bokhoven, Hans 分享 收藏
CIB2 regulates mTORC1 signaling and is essential for autophagy and visual function CIB2调节mTORC1信号，对自噬和视觉功能至关重要 Sethna, Saumil; Scott, Patrick A.; Giese, Arnaud P. J.; Duncan, Todd; Jian, Xiaoying; Riazuddin, Sheikh; Randazzo, Paul A.; Redmond, T. Michael; Bernstein, Steven L.; Riazuddin, Saima; Ahmed, Zubair M. 分享 收藏
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A missense allele of PEX5 is responsible for the defective import of PTS2 cargo proteins into peroxisomes Ali, Muhammad; Khan, Shahid Y.; Rodrigues, Tony A.; Francisco, Tania; Jiao, Xiaodong; Qi, Hang; Kabir, Firoz; Irum, Bushra; Rauf, Bushra; Khan, Asma A.; Mehmood, Azra; Naeem, Muhammad Asif; Assir, Muhammad Zaman; Ali, Muhammad Hassaan; Shahzad, Mohsin; Abu-Amero, Khaled K.; Akram, Shehla Javed; Akram, Javed; Riazuddin, Sheikh; Riazuddin, Saima; Robinson, Michael L.; Baes, Myriam; Azevedo, Jorge E.; Hejtmancik, J. Fielding; Riazuddin, S. Amer 分享 收藏
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