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HERMANSKY-PUDLAK SYNDROME 6
Known as:
HPS6
National Institutes of Health
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Related topics
Related topics
1 relation
HPS6, 4-BP DEL, CODON 571, TCTG
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2018
2018
Albinism Panel (Ophthalmology) Plus
Referring Healthcare
2018
Corpus ID: 53476738
The Blueprint Genetics Albinism Panel (version 3, Mar 01, 2018) Plus Analysis includes sequence analysis and copy number…
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2018
2018
Ten New Cases of Hermansky-Pudlak Syndrome in the Iberian Peninsula: Identification of Novel Genetic Variants in HPS3, HPS4, HPS6 and DTNBP1 Associated with Significant Clinical Complications
J. Bastida
,
Sara Morais
,
+19 authors
J. Rivera
Blood
2018
Corpus ID: 86532245
Introduction Hermansky-Pudlak syndrome (HPS) is an inherited platelet disorder characterized by bleeding diathesis…
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2016
2016
Whole-exome sequencing in the investigation of retinal dystrophy
S. Hull
,
G. Arno
,
+6 authors
A. Moore
The Lancet
2016
Corpus ID: 54323061
2015
2015
Scenario of short anesthesia administration prepared for human patient simulator
Tereza Antosova
,
M. Rožánek
E-Health and Bioengineering Conference
2015
Corpus ID: 10209866
The study deals with a design of the scenario of administration of total anesthesia on the life-size simulator. Life-size…
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2009
2009
Pigmentation and the cutaneous response to ultraviolet radiation
T. H. Wong
2009
Corpus ID: 82798789
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