Zobrazeno 1 - 10
of 1 952
pro vyhledávání: '"Hermansky–Pudlak syndrome"'
Autor:
Wei, Aihua1 weiaihua3000@163.com, Yuan, Yefeng2, Qi, Zhan2, Liu, Teng1, Bai, Dayong3, Zhang, Yingzi4, Yu, Jiaying5, Yang, Lin5, Yang, Xiumin1, Li, Wei2,4 liwei@bch.com.cn
Publikováno v:
Pigment Cell & Melanoma Research. May2019, Vol. 32 Issue 3, p373-380. 8p.
Autor:
Eskazan, Tugce1, Erturkuner, Salime Pelin2, Isildar, Basak2, Eskazan, Ahmet Emre3 emreeskazan@hotmail.com, Ar, Muhlis Cem3, Atay, Kadri1, Baslar, Zafer3, Tasyurekli, Mustafa2
Publikováno v:
Ultrastructural Pathology. 2019, Vol. 43 Issue 1, p94-98. 5p.
Akademický článek
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Autor:
Joseline Serrano‐González, Ingrid Montes‐Rodríguez, Jessicca Y. Renta, Ricardo Rojas, Carmen L. Cadilla
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 12, Iss 7, Pp n/a-n/a (2024)
Abstract Background Albinism is a heterogeneous condition in which patients present complete absence, reduction, or normal pigmentation in skin, hair and eyes in addition to ocular defects. One of the heterogeneous forms of albinism is observed in He
Externí odkaz:
https://doaj.org/article/182374f9d0904f3cb230f3d0f6304c28
Autor:
El-Chemaly, Souheil1, O’Brien, Kevin J.2, Nathan, Steven D.3, Weinhouse, Gerald L.1, Goldberg, Hilary J.1, Connors, Jean M.4, Cui, Ye1, Astor, Todd L.5, Jr.Camp, Philip C.6, Rosas, Ivan O.1, Lemma, Merte3, Speransky, Vladislav7, Merideth, Melissa A.8, Gahl, William A.2,8, Gochuico, Bernadette R.8 gochuicb@mail.nih.gov
Publikováno v:
PLoS ONE. 3/16/2018, Vol. 13 Issue 3, p1-11. 11p.
Autor:
Botero, Juliana Perez1 (AUTHOR), Chen, Dong2,3 (AUTHOR), Majerus, Julie A.2 (AUTHOR), Coon, Lea M.2 (AUTHOR), He, Rong2,3 (AUTHOR), Warad, Deepti M.2 (AUTHOR), Pruthi, Rajiv K.1,2,3 (AUTHOR), Nichols, William L.1,2,3 (AUTHOR) Nichols.William@mayo.edu
Publikováno v:
Platelets. Jan2018, Vol. 29 Issue 1, p91-94. 4p.
Publikováno v:
Annals of Coloproctology, Vol 40, Iss Suppl 1, Pp S11-S14 (2024)
Hermansky-Pudlak syndrome (HPS) is a rare genetic disease consisting of the triad of oculocutaneous albinism, bleeding diathesis, and pigmented reticuloendothelial cells. In HPS patients’ granulomatous colitis could be an additional feature and per
Externí odkaz:
https://doaj.org/article/32c9b594999f47bfa0eecbae71170463
Autor:
Michaud, Vincent1, Lasseaux, Eulalie1 eulalie.lasseaux@chu-bordeaux.fr, Plaisant, Claudio1, Verloes, Alain2, Perdomo ‐ Trujillo, Yaumara3, Hamel, Christian4, Elcioglu, Nursel H.5,6, Leroy, Bart7, Kaplan, Josseline8, Jouk, Pierre ‐ Simon9, Lacombe, Didier1,10, Fergelot, Patricia1,10, Morice ‐ Picard, Fanny1,11, Arveiler, Benoit1,10
Publikováno v:
Pigment Cell & Melanoma Research. Nov2017, Vol. 30 Issue 6, p563-570. 8p.
Autor:
Stephen, Joshi1, Yokoyama, Tadafumi1, Tolman, Nathanial J.2, O’Brien, Kevin J.1, Nicoli, Elena-Raluca2, Brooks, Brian P.3, Huryn, Laryssa3, Titus, Steven A.4, Adams, David R.2,5, Chen, Dong6, Gahl, William A.1,2,5, Gochuico, Bernadette R.1 gochuicb@mail.nih.gov, Malicdan, May Christine V.2,5
Publikováno v:
PLoS ONE. 3/15/2017, Vol. 12 Issue 3, p1-14. 14p.
Autor:
Burges, Michala1,2 mwilson5@uthsc.edu, King, Benjamin2,3, McGee, Rose4, Brennan, Rachel5, Wilson, Matthew2,3
Publikováno v:
Ophthalmic Genetics. Feb2019, Vol. 40 Issue 1, p83-85. 3p.