Oculocutaneous albinism and bleeding diathesis due to a novel deletion in the HPS3 gene

por Marek-Yagel, Dina, Abudi-Sinreich, Shachar, Macarov, Michal, Veber, Alvit, Shalva, Nechama, Philosoph, Amit Mary, Pode-Shakked, Ben, Malicdan, May Christine V., Anikster, Yair
Publicado 2022

Four patients with D-bifunctional protein (DBP) deficiency: Expanding the phenotypic spectrum of a highly variable disease

por Landau, Yuval E., Heimer, Gali, Barel, Ortal, Shalva, Nechama, Marek-Yagel, Dina, Veber, Alvit, Javasky, Elisheva, Shilon, Aya, Nissenkorn, Andreea, Ben-Zeev, Bruria, Anikster, Yair
Publicado 2020