Showing 1 - 8 results of 8 for search 'May Christine V Malicdan', query time: 0.03s
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Oculocutaneous albinism and bleeding diathesis due to a novel deletion in the HPS3 gene by Dina Marek-Yagel, Dina Marek-Yagel, Shachar Abudi-Sinreich, Shachar Abudi-Sinreich, Michal Macarov, Alvit Veber, Nechama Shalva, Amit Mary Philosoph, Ben Pode-Shakked, Ben Pode-Shakked, Ben Pode-Shakked, May Christine V. Malicdan, May Christine V. Malicdan, Yair Anikster, Yair Anikster, Yair Anikster
Published 2022-08-01
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cDNA sequencing increases the molecular diagnostic yield in Chediak-Higashi syndrome by Chulaluk Kuptanon, Marie Morimoto, Elena-Raluca Nicoli, Joshi Stephen, David S. Yarnell, Heidi Dorward, William Owen, Suhag Parikh, Namik Yasar Ozbek, Baris Malbora, Carla Ciccone, Meral Gunay-Aygun, William A. Gahl, William A. Gahl, Wendy J. Introne, Wendy J. Introne, May Christine V. Malicdan, May Christine V. Malicdan
Published 2023-03-01
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In vitro and in vivo pharmacokinetic characterization, chiral conversion and PBPK scaling towards human PK simulation of S-MRI-1867, a drug candidate for Hermansky-Pudlak syndrome... by Elias C. Padilha, Mengbi Yang, Pranav Shah, Amy Q. Wang, Jianmin Duan, Joshua K. Park, Charles N. Zawatsky, May Christine V. Malicdan, George Kunos, Malliga R. Iyer, Geneviève Gaucher, François Ravenelle, Resat Cinar, Xin Xu
Published 2023-12-01
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Biallelic HEPHL1 variants impair ferroxidase activity and cause an abnormal hair phenotype. by Prashant Sharma, Marie Reichert, Yan Lu, Thomas C Markello, David R Adams, Peter J Steinbach, Brie K Fuqua, Xenia Parisi, Stephen G Kaler, Christopher D Vulpe, Gregory J Anderson, William A Gahl, May Christine V Malicdan
Published 2019-05-01
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Progressive pulmonary fibrosis in a murine model of Hermansky-Pudlak syndrome by Shachar Abudi-Sinreich, Steven P. Bodine, Tadafumi Yokoyama, Nathanial J. Tolman, Michal Tyrlik, Lauren C. Testa, Chen G. Han, Heidi M. Dorward, Stephen M. Wincovitch, Yair Anikster, William A. Gahl, Resat Cinar, Bernadette R. Gochuico, May Christine V. Malicdan
Published 2022-05-01
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CB1R and iNOS are distinct players promoting pulmonary fibrosis in Hermansky–Pudlak syndrome by Resat Cinar, Joshua K. Park, Charles N. Zawatsky, Nathan J. Coffey, Steven P. Bodine, Jasmina Abdalla, Tadafumi Yokoyama, Tony Jourdan, Lindsey Jay, Mei Xing G. Zuo, Kevin J. O'Brien, Junfeng Huang, Ken Mackie, Asaf Alimardanov, Malliga R. Iyer, William A. Gahl, George Kunos, Bernadette R. Gochuico, May Christine V. Malicdan
Published 2021-07-01
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Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment by Marie Morimoto, Vikas Bhambhani, Nour Gazzaz, Mariska Davids, Paalini Sathiyaseelan, Ellen F. Macnamara, Jennifer Lange, Anna Lehman, Patricia M. Zerfas, Jennifer L. Murphy, Maria T. Acosta, Camille Wang, Emily Alderman, Undiagnosed Diseases Network, Sara Reichert, Audrey Thurm, David R. Adams, Wendy J. Introne, Sharon M. Gorski, Cornelius F. Boerkoel, William A. Gahl, Cynthia J. Tifft, May Christine V. Malicdan
Published 2023-02-01
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