Clinical and molecular phenotyping of a child with Hermansky-Pudlak syndrome-7, an uncommon genetic type of HPS
Bryan, Melanie M., Tolman, Nathanial J., Simon, Karen L., Huizing, Marjan, Hufnagel, Robert B., Brooks, Brian P., Speransky, Vladislav, Mullikin, James C., Gahl, William A., Malicdan, May Christine V., Gochuico, Bernadette R.
Published in Molecular genetics and metabolism (01.04.2017)
Published in Molecular genetics and metabolism (01.04.2017)
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Cystic cerebellar dysplasia and biallelic LAMA1 mutations: a lamininopathy associated with tics, obsessive compulsive traits and myopia due to cell adhesion and migration defects
Vilboux, Thierry, Malicdan, May Christine V, Chang, Yun Min, Guo, Jennifer, Zerfas, Patricia M, Stephen, Joshi, Cullinane, Andrew R, Bryant, Joy, Fischer, Roxanne, Brooks, Brian P, Zein, Wadih M, Wiggs, Edythe A, Zalewski, Christopher K, Poretti, Andrea, Bryan, Melanie M, Vemulapalli, Meghana, Mullikin, James C, Kirby, Martha, Anderson, Stacie M, Huizing, Marjan, Toro, Camilo, Gahl, William A, Gunay-Aygun, Meral
Published in Journal of medical genetics (01.05.2016)
Published in Journal of medical genetics (01.05.2016)
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A clinical report of Chediak-Higashi syndrome in infancy with a novel genotype from the Indian subcontinent
Singh, Ankur, Bryan, Melanie M., Roney, Joseph C., Cullinane, Andrew R., Gahl, William A., Khurana, Nita, Kapoor, Seema
Published in International journal of dermatology (01.03.2016)
Published in International journal of dermatology (01.03.2016)
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