Search Results - "albinism"

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  1. 61
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    Merkel Cell Carcinoma of the Head in a Young African Albino Woman with HIV/HTLV-1 Coinfection Associated with Multiple Squamous Cell Carcinomas by Daniela Tenea, Jurgen Dinkel, Jurgen C. Becker, Elisabeth van der Walt

    Published 2019
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  2. 62
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    Rare Genetic Disorders Affecting the Periodontal Supporting Tissues in Adolescence by Ines Kapferer-Seebacher, Lena Foradori, Johannes Zschocke, Reinhard Schilke

    Published 2021
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  3. 63
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    Biophysical Compatibility of a Heterotrimeric Tyrosinase-TYRP1-TYRP2 Metalloenzyme Complex by Olga Lavinda, Prashiela Manga, Seth J. Orlow, Timothy Cardozo

    Published 2021
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  4. 64
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    Nystagmus in Childhood by Eleni Papageorgiou, Rebecca J. McLean, Irene Gottlob

    Published 2014
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  5. 65
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    Clinico-hematological profile of Chediak-Higashi syndrome: Experience from a tertiary care center in south India by Arun Roy, Rakhee Kar, Debdatta Basu, S Srivani, Bhawana Ashok Badhe

    Published 2011
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  6. 66
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    Amelanotic melanoma in a patient with Hermansky-Pudlak syndrome by Ryan Fan, BA, Margaret S. Johnston, MD, Michael F. Gowen, MD, William Damsky, MD, PhD, Ian Odell, MD, PhD, James Clune, MD, Matthew D. Vesely, MD, PhD

    Published 2022
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  7. 67
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    Assessment of the photoprotective and antimicrobial activity of two dermatological creams based on Mathesia and oil of Curcuma longa L. (Zingiberaceae) on Albinos by Gustave L. Nyamangombe, Blanchard M. Mayele, Helmont L. Nkasa, Joseph D. Tshidibi, Esther M. Mpiana, Fiston B. Masikini, Gracias I. Mbokolo, Blaise M. Mbembo, Jean Jacques D. Amogu, Armandine Mubwele

    Published 2024
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  8. 68
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    Hermansky-Pudlak Syndrome: Identification of Novel Variants in the Genes HPS3, HPS5, and DTNBP1 (HPS-7) by Doris Boeckelmann, Mira Wolter, Katharina Neubauer, Felix Sobotta, Antonia Lenz, Hannah Glonnegger, Barbara Käsmann-Kellner, Jasmin Mann, Stephan Ehl, Barbara Zieger

    Published 2022
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  9. 69
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    First evidence of maternally inherited mosaicism in TGFBR1 and subtle primary myocardial changes in Loeys-Dietz syndrome: a case report by Anwar Baban, Monia Magliozzi, Bart Loeys, Rachele Adorisio, Viola Alesi, Aurelio Secinaro, Bernadette Corica, Luca Vricella, Harry C. Dietz, Fabrizio Drago, Antonio Novelli, Antonio Amodeo

    Published 2018
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  10. 70
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    Dermatodendrosophy and dermatokarposophy - A bird's eye view by Anil Harishchandra Patki, Paras Choudhary

    Published 2022
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  11. 71
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    Griscelli syndrome by Kumar T, Ebenazar Sam, Moses Prabhakar

    Published 2006
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  12. 72
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    Clinical case: observation of a child with Chediak-Higashi syndrome by L. U. Ulukhanova, D. C. Amirkhanova, S. M. Attaeva, M. A. Ninalalov, N. C. Karnaeva

    Published 2023
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  13. 73
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    Oral Management of a Haematopoietic Stem Cell Transplant Recipient with Chédiak-Higashi Syndrome by Kasumi Shimizu, Miho Hayashi, Nozomi Ito, Kokoro Hamada, Gaku Koizumi, Kazuto Kurohara, Naoya Arai

    Published 2021
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  14. 74
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    The Ophthalmological Manifestations of Various Inborn Errors of Metabolism: A Narrative Review by Abdolreza Medghalchi, Afagh Hassanzadeh Rad, Setila Dalili

    Published 2021
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  15. 75
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    Chediak-Higashi syndrome presenting in the accelerated phase by Subramani Palaniyandi, Umapathy Pasupathy, Latha Ravichandran, Aruna Rajendran, Febe Renjitha Suman, Sasitharan R Prasad

    Published 2017
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  16. 76
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    A novel LYST mutation causing Chédiak Higashi syndrome in a South African child by Joycelyn Assimeng Dame, Lee-Ann Phillips, Nico de Villiers, Komala Pillay, Carol Hlela, Brian Eley

    Published 2019
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  17. 77
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    Griscelli syndrome type 2: A rare and fatal syndrome in a South Indian boy by R Rajyalakshmi, R. N. B. Chakrapani

    Published 2016
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  18. 78
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    Analogs of human genetic skin disease in domesticated animals by Justin Finch, MD, Stephanie Abrams, DVM, Amy Finch, MBA

    Published 2017
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  19. 79
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    Absence of dense platelet granules and ceroid-laden macrophages: Investigating the diversity of clinical presentations in Hermansky-Pudlak syndrome by Lanny T. DiFranza, Dong Chen, Charles C. Marboe, Alex J. Rai

    Published 2021
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  20. 80
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    l-DOPA and Its Receptor GPR143: Implications for Pathogenesis and Therapy in Parkinson's Disease by Yoshio Goshima, Daiki Masukawa, Yuka Kasahara, Tatsuo Hashimoto, Aderemi Caleb Aladeokin

    Published 2019
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