LBODP066 A Conservative Approach To The Management Of Glucagon Receptor (GCCR) Mutation (Mahvash Syndrome)

por Morgenthau, Ari, Amer, Lama, Silver, Josh, Kim, Raymond, Morel, Chantal, Ezzat, Shereen Z
Publicado 2022

A systematic review of measures of the personal recovery orientation of mental health services and staff

por Leamy, Mary, Foye, Una, Hirrich, Anne, Bjørgen, Dagfin, Silver, Josh, Simpson, Alan, Ellis, Madeline, Johan-Johanson, Karl
Publicado 2023

Spectacle Design Preferences among Chinese Primary and Secondary Students and Their Parents: A Qualitative and Quantitative Study

por Zhou, Zhongqiang, Kecman, Maja, Chen, Tingting, Liu, Tianyu, Jin, Ling, Chen, Shangji, Chen, Qianyun, He, Mingguang, Silver, Josh, Moore, Bruce, Congdon, Nathan
Publicado 2014

From Function to Phenotype: Impaired DNA Binding and Clustering Correlates with Clinical Severity in Males with Missense Mutations in MECP2

por Sheikh, Taimoor I., Ausió, Juan, Faghfoury, Hannah, Silver, Josh, Lane, Jane B., Eubanks, James H., MacLeod, Patrick, Percy, Alan K., Vincent, John B.
Publicado 2016

Finding the sweet spot: a qualitative study exploring patients’ acceptability of chatbots in genetic service delivery

por Luca, Stephanie, Clausen, Marc, Shaw, Angela, Lee, Whiwon, Krishnapillai, Suvetha, Adi-Wauran, Ella, Faghfoury, Hanna, Costain, Gregory, Jobling, Rebekah, Aronson, Melyssa, Liston, Eriskay, Silver, Josh, Shuman, Cheryl, Chad, Lauren, Hayeems, Robin Z., Bombard, Yvonne
Publicado 2023

De novo variants in H3-3A and H3-3B are associated with neurodevelopmental delay, dysmorphic features, and structural brain abnormalities

por Okur, Volkan, Chen, Zefu, Vossaert, Liesbeth, Peacock, Sandra, Rosenfeld, Jill, Zhao, Lina, Du, Haowei, Calamaro, Emily, Gerard, Amanda, Zhao, Sen, Kelsay, Jill, Lahr, Ashley, Mighton, Chloe, Porter, Hillary M., Siemon, Amy, Silver, Josh, Svihovec, Shayna, Fong, Chin-To, Grant, Christina L., Lerner-Ellis, Jordan, Manickam, Kandamurugu, Madan-Khetarpal, Suneeta, McCandless, Shawn E., Morel, Chantal F., Schaefer, G. Bradley, Berry-Kravis, Elizabeth M., Gates, Ryan, Gomez-Ospina, Natalia, Qiu, Guixing, Zhang, Terry Jianguo, Wu, Zhihong, Meng, Linyan, Liu, Pengfei, Scott, Daryl A., Lupski, James R., Eng, Christine M., Wu, Nan, Yuan, Bo
Publicado 2021