Cortical atrophy and hypofibrinogenemia due to FGG and TBCD mutations in a single family: a case report

by Joshi Stephen, Sheela Nampoothiri, K. P. Vinayan, Dhanya Yesodharan, Preetha Remesh, William A. Gahl, May Christine V. Malicdan
Published 2018-05-01

Hermansky-Pudlak syndrome and oculocutaneous albinism in Chinese children with pigmentation defects and easy bruising

by Bradley Power, Carlos R. Ferreira, Dong Chen, Wadih M. Zein, Kevin J. O’Brien, Wendy J. Introne, Joshi Stephen, William A. Gahl, Marjan Huizing, May Christine V. Malicdan, David R. Adams, Bernadette R. Gochuico
Published 2019-02-01

Cellular and molecular defects in a patient with Hermansky-Pudlak syndrome type 5.

by Joshi Stephen, Tadafumi Yokoyama, Nathanial J Tolman, Kevin J O'Brien, Elena-Raluca Nicoli, Brian P Brooks, Laryssa Huryn, Steven A Titus, David R Adams, Dong Chen, William A Gahl, Bernadette R Gochuico, May Christine V Malicdan
Published 2017-01-01

Deficiency in the endocytic adaptor proteins PHETA1/2 impairs renal and craniofacial development

by Kristin M. Ates, Tong Wang, Trevor Moreland, Rajalakshmi Veeranan-Karmegam, Manxiu Ma, Chelsi Jeter, Priya Anand, Wolfgang Wenzel, Hyung-Goo Kim, Lynne A. Wolfe, Joshi Stephen, David R. Adams, Thomas Markello, Cynthia J. Tifft, Robert Settlage, William A. Gahl, Graydon B. Gonsalvez, May Christine Malicdan, Heather Flanagan-Steet, Y. Albert Pan
Published 2020-05-01