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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Rare Diseases

Last data update: Jan 25, 2025. (Total: 235671Documents)
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Records 1 - 3 (of 3 Records)

Query Trace: Stomatocytosis I[original query]
PIEZO1-R1864H rare variant accounts for a genetic phenotype-modifier role in dehydrated hereditary stomatocytosis.
Haematologica 2017 12 103 (3): e94-e97.
Andolfo Immacolata, Manna Francesco, De Rosa Gianluca, Rosato Barbara Eleni, Gambale Antonella, Tomaiuolo Giovanna, Carciati Antonio, Marra Roberta, De Franceschi Lucia, Iolascon Achille, Russo Rober
Genotype-phenotype correlation and risk stratification in a cohort of 123 hereditary stomatocytosis patients.
American journal of hematology 2018 Sep .
Immacolata Andolfo, Roberta Russo, Barbara Rosato Eleni, Francesco Manna, Antonella Gambale, Brugnara Carlo, Achille Iolasc
Multi-gene panel testing improves diagnosis and management of patients with hereditary anemias.
American journal of hematology 2018 2 93 (5): 672-682.
Russo Roberta, Andolfo Immacolata, Manna Francesco, Gambale Antonella, Marra Roberta, Rosato Barbara Eleni, Caforio Paola, Pinto Valeria, Pignataro Piero, Radhakrishnan Kottayam, Unal Sule, Tomaiuolo Giovanna, Forni Gian Luca, Iolascon Achil
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