检索结果 - Mirafe Lafek
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The genotypic and phenotypic spectrum of PIGA deficiency 由 Maja Tarailo‐Graovac, Graham Sinclair, Sylvia Stöckler‐Ipsiroglu, Margot Van Allen, Jacob Rozmus, Casper Shyr, Roberta Biancheri, Tracey Oh, Bryan Sayson, Mirafe Lafek, Colin J.D. Ross, Wendy P. Robinson, Wyeth W. Wasserman, Andrea Rossi, Clara DM van Karnebeek
出版 2015Artigo
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Biology
Alternative medicine
Biochemistry
Bioinformatics
Compound heterozygosity
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Environmental health
Frameshift mutation
Gene
Genetics
Germline
Germline mutation
Global developmental delay
Intellectual disability
Intensive care medicine
MEDLINE
Medicine
Missense mutation
Mutation
Newborn screening
Pathology
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Phenotype
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Protocol (science)
Psychiatry
Rare disease