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

Por WHITE, JAMES G., HESS, RICHARD A., GAHL, WILLIAM A., INTRONE, WENDY
Publicado em 2012

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

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

Hermansky-Pudlak Syndrome Type 1 in Patients of Indian Descent

Por 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.
Publicado em 2009

Hermansky-Pudlak Syndrome in Two African-American Brothers

Por 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.
Publicado em 2009

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

Por 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
Publicado em 2009

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

Por 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.
Publicado em 2011

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

Por 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.
Publicado no Am J Hum Genet (2017)

Neurologic involvement in patients with atypical Chediak-Higashi disease

Por 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
Publicado no Neurology (2016)

Neurologic involvement in patients with atypical Chediak-Higashi disease

Por 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
Publicado no Neurology (2017)