Rapid ultrastructural detection of success or failure after bone marrow transplantation in the Chediak-Higashi Syndrome

per WHITE, JAMES G., HESS, RICHARD A., GAHL, WILLIAM A., INTRONE, WENDY
Publicat 2012

A BLOC-1 Mutation Screen Reveals a Novel BLOC1S3 Mutation in Hermansky-Pudlak Syndrome Type 8 (HPS-8)

per Cullinane, Andrew R, Curry, James A, Golas, Gretchen, Pan, James, Carmona-Rivera, Carmelo, Hess, Richard A, White, James G, Huizing, Marjan, Gahl, William A
Publicat 2012

Hermansky-Pudlak Syndrome Type 1 in Patients of Indian Descent

per Vincent, Lisa M., Adams, David, Hess, Richard A., Ziegler, Shira G., Tsilou, Ekaterini, Golas, Gretchen, O'Brien, Kevin J., White, James G., Huizing, Marjan, Gahl, William A.
Publicat 2009

Hermansky-Pudlak Syndrome in Two African-American Brothers

per Merideth, Melissa A., Vincent, Lisa M., Sparks, Susan E., Hess, Richard A., Manoli, Irini, O’Brien, Kevin J., Tsilou, Ekaterina, White, James G., Huizing, Marjan, Gahl, William A.
Publicat 2009

Clinical and cellular characterization of Hermansky-Pudlak syndrome type-6

per Huizing, Marjan, Pederson, Ben, Hess, Richard A, Griffin, Ashley, Helip-Wooley, Amanda, Westbroek, Wendy, Dorward, Heidi, O’Brien, Kevin J, Golas, Gretchen, Tsilou, Ekaterini, White, James G, Gahl, William A
Publicat 2009

Hermansky-Pudlak Syndrome: Mutation Update

per Huizing, Marjan, Malicdan, May Christine V., Wang, Jennifer A., Pri-Chen, Hadass, Hess, Richard A., Fischer, Roxanne, O’Brien, Kevin J., Merideth, Melissa A., Gahl, William A., Gochuico, Bernadette R.
Publicat a Hum Mutat (2020)

A BLOC-1 Mutation Screen Reveals that PLDN Is Mutated in Hermansky-Pudlak Syndrome Type 9

per Cullinane, Andrew R., Curry, James A., Carmona-Rivera, Carmelo, Summers, C. Gail, Ciccone, Carla, Cardillo, Nicholas D., Dorward, Heidi, Hess, Richard A., White, James G., Adams, David, Huizing, Marjan, Gahl, William A.
Publicat 2011

Retraction Notice to: A BLOC-1 Mutation Screen Reveals that PLDN Is Mutated in Hermansky-Pudlak Syndrome Type 9

per Cullinane, Andrew R., Curry, James A., Carmona-Rivera, Carmelo, Summers, C. Gail, Ciccone, Carla, Cardillo, Nicholas D., Dorward, Heidi, Hess, Richard A., White, James G., Adams, David, Huizing, Marjan, Gahl, William A.
Publicat a Am J Hum Genet (2017)

Neurologic involvement in patients with atypical Chediak-Higashi disease

per Introne, Wendy J., Westbroek, Wendy, Cullinane, Andrew R., Groden, Catherine A., Bhambhani, Vikas, Golas, Gretchen A., Baker, Eva H., Lehky, Tanya J., Snow, Joseph, Ziegler, Shira G., Adams, David R., Dorward, Heidi M., Hess, Richard A., Huizing, Marjan, Gahl, William A., Toro, Camilo
Publicat a Neurology (2016)

Neurologic involvement in patients with atypical Chediak-Higashi disease

per Introne, Wendy J., Westbroek, Wendy, Groden, Catherine A., Bhambhani, Vikas, Golas, Gretchen A., Baker, Eva H., Lehky, Tanya J., Snow, Joseph, Ziegler, Shira G., Malicdan, May Christine V., Adams, David R., Dorward, Heidi M., Hess, Richard A., Huizing, Marjan, Gahl, William A., Toro, Camilo
Publicat a Neurology (2017)