Cascade screening for beta-thalassemia in Pakistan: development, feasibility and acceptability of a decision support intervention for relatives von Ahmed, Shenaz, Jafri, Hussain, Rashid, Yasmin, Ehsan, Yasmin, Bashir, Shabnam, Ahmed, Mushtaq

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Autonomous decision-making for antenatal screening in Pakistan: views held by women, men and health professionals in a low-middle income country von Ahmed, Shenaz, Jafri, Hussain, Rashid, Yasmin, Yi, Huso, Dong, Dong, Zhu, Jianfeng, Ahmed, Mushtaq

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Cascade screening for beta-thalassaemia in Pakistan: relatives' experiences of a decision support intervention in routine practice von Ahmed, Shenaz, Jafri, Hussain, Faran, Muhammed, Ahmed, Wajeeha Naseer, Rashid, Yasmin, Ehsan, Yasmin, Ahmed, Mushtaq

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An SCN9A channelopathy causes congenital inability to experience pain von Cox, James J., Reimann, Frank, Nicholas, Adeline K., Thornton, Gemma, Roberts, Emma, Springell, Kelly, Karbani, Gulshan, Jafri, Hussain, Mannan, Jovaria, Raashid, Yasmin, Al-Gazali, Lihadh, Hamamy, Henan, Valente, Enza Maria, Gorman, Shaun, Williams, Richard, McHale, Duncan P., Wood, John N., Gribble, Fiona M., Woods, C. Geoffrey

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Accuracy of TrUE-Net in comparison to established white matter hyperintensity segmentation methods: An independent validation study von Strain, Jeremy F, Rahmani, Maryam, Dierker, Donna, Owen, Christopher, Jafri, Hussain, Vlassenko, Andrei G, Womack, Kyle, Fripp, Jurgen, Tosun, Duygu, Benzinger, Tammie L S, Weiner, Michael, Masters, Colin, Lee, Jin-Moo, Morris, John C, Goyal, Manu S

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Physician Deserts: Navigating the Texas Terrain of Provider Supply and Demand with GIS Mapping von Jafri, Syed Hussain, Gandhi, Subi, Osei, Edward

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Pakistani healthcare professionals’ perceptions of communication with patients and their relatives about hereditary breast cancer: a qualitative study in a LMIC von Ahmed, Shenaz, Jafri, Hussain, Ahmed, Wajeeha Naseer, Khanam, Andleeb, Rashid, Yasmin, Ahmed, Mushtaq

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Impact of COVID-19 on mental health of primary healthcare workers in Pakistan: lessons from a qualitative inquiry von Hameed, Waqas, Avan, Bilal Iqbal, Feroz, Anam Shahil, Khan, Bushra, Fatmi, Zafar, Jafri, Hussain, Wassan, Mansoor Ali, Siddiqi, Sameen

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Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration von Koenekoop, Robert K, Wang, Hui, Majewski, Jacek, Wang, Xia, Lopez, Irma, Ren, Huanan, Chen, Yiyun, Li, Yumei, Fishman, Gerald A, Genead, Mohammed, Schwartzentruber, Jeremy, Solanki, Naimesh, Traboulsi, Elias I, Cheng, Jingliang, Logan, Clare V, McKibbin, Martin, Hayward, Bruce E, Parry, David A, Johnson, Colin A, Nageeb, Mohammed, Poulter, James A, Mohamed, Moin D, Jafri, Hussain, Rashid, Yasmin, Taylor, Graham R, Keser, Vafa, Mardon, Graeme, Xu, Huidan, Inglehearn, Chris F, Fu, Qing, Toomes, Carmel, Chen, Rui

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Null Mutations in LTBP2 Cause Primary Congenital Glaucoma von Ali, Manir, McKibbin, Martin, Booth, Adam, Parry, David A., Jain, Payal, Riazuddin, S. Amer, Hejtmancik, J. Fielding, Khan, Shaheen N., Firasat, Sabika, Shires, Mike, Gilmour, David F., Towns, Katherine, Murphy, Anna-Louise, Azmanov, Dimitar, Tournev, Ivailo, Cherninkova, Sylvia, Jafri, Hussain, Raashid, Yasmin, Toomes, Carmel, Craig, Jamie, Mackey, David A., Kalaydjieva, Luba, Riazuddin, Sheikh, Inglehearn, Chris F.

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Comparison of [11C]-PBR28 Binding Between Persons Living With HIV and HIV-Uninfected Individuals von Boerwinkle, Anna H., Strain, Jeremy F., Burdo, Tricia, Doyle, John, Christensen, Jon, Su, Yi, Wisch, Julie K., Cooley, Sarah A., Vaida, Florin, Smith, Mandy D., Jafri, Hussain, Paul, Robert H., Benzinger, Tammie L.S., Ances, Beau M.

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The Carbon Footprint of a 5000-Milking-Head Dairy Operation in Central Texas von Woolery, Sadie, Osei, Edward, Yu, Mark, Guney, Selin, Lovell, Ashley, Jafri, Hussain

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Mutations in the pH-Sensing G-protein-Coupled Receptor GPR68 Cause Amelogenesis Imperfecta von Parry, David A., Smith, Claire E.L., El-Sayed, Walid, Poulter, James A., Shore, Roger C., Logan, Clare V., Mogi, Chihiro, Sato, Koichi, Okajima, Fumikazu, Harada, Akihiro, Zhang, Hong, Koruyucu, Mine, Seymen, Figen, Hu, Jan C.-C., Simmer, James P., Ahmed, Mushtaq, Jafri, Hussain, Johnson, Colin A., Inglehearn, Chris F., Mighell, Alan J.

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Mutations in the Beta Propeller WDR72 Cause Autosomal-Recessive Hypomaturation Amelogenesis Imperfecta von El-Sayed, Walid, Parry, David A., Shore, Roger C., Ahmed, Mushtaq, Jafri, Hussain, Rashid, Yasmin, Al-Bahlani, Suhaila, Al Harasi, Sharifa, Kirkham, Jennifer, Inglehearn, Chris F., Mighell, Alan J.

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Decision making on antenatal screening results: A comparative Q‐method study of women from two Chinese cities von Dong, Dong, Ahmed, Shenaz, Nichini, Elena, Yi, Huso, Jafri, Hussain, Rashid, Yasmin, Ahmed, Mushtaq, Zhu, Jianfeng

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Identification of Mutations in SLC24A4, Encoding a Potassium-Dependent Sodium/Calcium Exchanger, as a Cause of Amelogenesis Imperfecta von Parry, David A., Poulter, James A., Logan, Clare V., Brookes, Steven J., Jafri, Hussain, Ferguson, Christopher H., Anwari, Babra M., Rashid, Yasmin, Zhao, Haiqing, Johnson, Colin A., Inglehearn, Chris F., Mighell, Alan J.

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Understanding the mental health impact and needs of public healthcare professionals during COVID-19 in Pakistan : a qualitative study von Hameed, Waqas, Feroz, Anam Shahil, Avan, Bilal Iqbal, Khan, Bushra, Fatmi, Zafar, Afzal, Noreen, Jafri, Hussain, Wassan, Mansoor Ali, Siddiqi, Sameen

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A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size von Bond, Jacquelyn, Roberts, Emma, Springell, Kelly, Lizarraga, Sophia, Scott, Sheila, Higgins, Julie, Hampshire, Daniel J, Morrison, Ewan E, Leal, Gabriella F, Silva, Elias O, Costa, Suzana M R, Baralle, Diana, Raponi, Michela, Karbani, Gulshan, Rashid, Yasmin, Jafri, Hussain, Bennett, Christopher, Corry, Peter, Walsh, Christopher A, Woods, C Geoffrey

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Deep transfer learning with multimodal embedding to tackle cold-start and sparsity issues in recommendation system von Jafri, Syed Irteza Hussain, Ghazali, Rozaida, Javid, Irfan, Mahmood, Zahid, Hassan, Abdullahi Abdi Abubakar

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SENSE-Cog Asia: A Feasibility Study of a Hearing Intervention to Improve Outcomes in People With Dementia von Sheikh, Saima, Tofique, Sehrish, Zehra, Nosheen, Amjad, Rabia, Rasheed, Maham, Usman, Maria, Lal, Shanker, Hooper, Emma, Miah, Jahanara, Husain, Nusrat, Jafri, Hussain, Chaudhry, Nasim, Leroi, Iracema

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