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1 . Academic Journal
Comprehensive Molecular Analysis of Disease-Related Genes as First-Tier Test for Early Diagnosis, Classification, and Management of Patients Affected by Nonsyndromic Ichthyosis
저자
by
Tiziana Fioretti
;
Fabrizio Martora
;
Ilaria De Maggio
;
Adelaide Ambrosio
;
Carmelo Piscopo
, et al.
소스
Biomedicines, Vol 12, Iss 5, p 1112 (2024)
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7 . Academic Journal
DICER1 Syndrome: A Multicenter Surgical Experience and Systematic Review
저자
by
Claudio Spinelli
;
Marco Ghionzoli
;
Linda Idrissi Sahli
;
Carla Guglielmo
;
Silvia Frascella
, et al.
소스
Cancers, Vol 15, Iss 14, p 3681 (2023)
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7 . Academic Journal
Novel PKLR missense mutation (A300P) causing pyruvate kinase deficiency in an Omani Kindred—PK deficiency masquerading as congenital dyserythropoietic anemia
저자
by
Naglaa Fawaz
;
Ismail Beshlawi
;
Alauldeen Alqasim
;
Mathew Zachariah
;
Roberta Russo
, et al.
소스
Clinical Case Reports, Vol 10, Iss 2, Pp n/a-n/a (2022)
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7 . Academic Journal
Summary of Joint European Hematology Association (EHA) and EuroBloodNet Recommendations on Diagnosis and Treatment of Methemoglobinemia
저자
by
Achille Iolascon
;
Immacolata Andolfo
;
Roberta Russo
;
Wilma Barcellini
;
Elisa Fermo
, et al.
소스
HemaSphere, Vol 5, Iss 12, p e660 (2021)
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7 . Academic Journal
RB1CC1 duplication and aberrant overexpression in a patient with schizophrenia: further phenotype delineation and proposal of a pathogenetic mechanism
저자
by
Edoardo Errichiello
;
Roberto Giorda
;
Antonella Gambale
;
Achille Iolascon
;
Orsetta Zuffardi
, et al.
소스
Molecular Genetics & Genomic Medicine, Vol 9, Iss 1, Pp n/a-n/a (2021)
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7 . Academic Journal
Corrigendum: Characterization of Two Cases of Congenital Dyserythropoietic Anemia Type I Shed Light on the Uncharacterized C15orf41 Protein
저자
by
Roberta Russo
;
Roberta Marra
;
Immacolata Andolfo
;
Gianluca De Rosa
;
Barbara Eleni Rosato
, et al.
소스
Frontiers in Physiology, Vol 11 (2020)
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7 . Academic Journal
Complex Modes of Inheritance in Hereditary Red Blood Cell Disorders: A Case Series Study of 155 Patients
저자
by
Immacolata Andolfo
;
Stefania Martone
;
Barbara Eleni Rosato
;
Roberta Marra
;
Antonella Gambale
, et al.
소스
Genes, Vol 12, Iss 7, p 958 (2021)
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7 . Academic Journal
Characterization of Two Cases of Congenital Dyserythropoietic Anemia Type I Shed Light on the Uncharacterized C15orf41 Protein
저자
by
Roberta Russo
;
Roberta Marra
;
Immacolata Andolfo
;
Gianluca De Rosa
;
Barbara Eleni Rosato
, et al.
소스
Frontiers in Physiology, Vol 10 (2019)
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7 . Academic Journal
PIEZO1 Hypomorphic Variants in Congenital Lymphatic Dysplasia Cause Shape and Hydration Alterations of Red Blood Cells
저자
by
Immacolata Andolfo
;
Gianluca De Rosa
;
Edoardo Errichiello
;
Francesco Manna
;
Barbara Eleni Rosato
, et al.
소스
Frontiers in Physiology, Vol 10 (2019)
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7 . Academic Journal
Genetic predictors of response to treatment of chronic hepatitis C virus infection in patients from southern Italy
저자
by
Mario Masarone
;
Roberta Russo
;
Antonella Gambale
;
Concetta Langella
;
Ferdinando Carlo Sasso
, et al.
소스
Italian Journal of Medicine, Vol 9, Iss 1, Pp 61-70 (2014)
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