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Italian Journal of Pediatrics
|
July 25, 2020
A novel PIEZO1 mutation in a patient with dehydrated hereditary stomatocytosis: a case report and a brief review of literature
Daniele Zama, Giulia Giulietti, Edoardo Muratore, et al.
Genes
|
September 28, 2024
A Novel De Novo <i>STAG1</i> Variant in Monozygotic Twins with Neurodevelopmental Disorder: New Insights in Clinical Heterogeneity
Lorenzo Cipriano, Roberta Russo, Immacolata Andolfo, et al.
Scientific Reports
|
June 10, 2015
Inhibition of hypoxia inducible factors combined with all-trans retinoic acid treatment enhances glial transdifferentiation of neuroblastoma cells
Flora Cimmino, Lucia Pezone, Marianna Avitabile, et al.
Journal of Proteome Research
|
June 15, 2007
Comparative proteomic expression profile in all-trans retinoic acid differentiated neuroblastoma cell line
Flora Cimmino, Daniela Spano, Mario Capasso, et al.
American Journal of Hematology
|
December 10, 2014
Identification of a novel variant of epsilon-gamma-delta-beta thalassemia highlights limitations of next generation sequencing
Armin Zebisch, Eduard Schulz, Michela Grosso, et al.
Haematologica
|
April 21, 2022
Hereditary anemia caused by multilocus inheritance of <i>PIEZO1</i>, <i>SLC4A1</i> and <i>ABCB6</i> mutations: a diagnostic and therapeutic challenge
Barbara Eleni Rosato, Seth L Alper, Giovanna Tomaiuolo, et al.
Prenatal Diagnosis
|
May 21, 2005
Congenital nephrotic syndrome of Finnish type: detection of new nephrin mutations and prenatal diagnosis in an Italian family
Maddalena Gigante, Pantaleo Greco, Vincenza Defazio, et al.
Haematologica
|
March 7, 2007
Abnormalities of erythrocyte glycoconjugates are identical in two families with congenital dyserythropoietic anemia type II with different chromosomal localizations of the disease gene
Ewa Zdebska, Achille Iolascon, Justyna Spychalska, et al.
Expert Opinion on Biological Therapy
|
April 2, 2021
Recommendations for pregnancy in Fanconi anemia
Charbel F Matar, Rayan Bou-Fakhredin, Roberta Russo, et al.
American Journal of Medical Genetics. Part A
|
March 22, 2017
Novel compound heterozygous mutations in BCS1L gene causing Bjornstad syndrome in two siblings
Mariateresa Falco, Annamaria Franzè, Sandra Iossa, et al.
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of 29
Search research articles
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Showing results (61-70 of 290) with videos related to
Sort By:
Page
of 29
Italian Journal of Pediatrics
|
July 25, 2020
A novel PIEZO1 mutation in a patient with dehydrated hereditary stomatocytosis: a case report and a brief review of literature
Daniele Zama, Giulia Giulietti, Edoardo Muratore, et al.
Genes
|
September 28, 2024
A Novel De Novo <i>STAG1</i> Variant in Monozygotic Twins with Neurodevelopmental Disorder: New Insights in Clinical Heterogeneity
Lorenzo Cipriano, Roberta Russo, Immacolata Andolfo, et al.
Scientific Reports
|
June 10, 2015
Inhibition of hypoxia inducible factors combined with all-trans retinoic acid treatment enhances glial transdifferentiation of neuroblastoma cells
Flora Cimmino, Lucia Pezone, Marianna Avitabile, et al.
Journal of Proteome Research
|
June 15, 2007
Comparative proteomic expression profile in all-trans retinoic acid differentiated neuroblastoma cell line
Flora Cimmino, Daniela Spano, Mario Capasso, et al.
American Journal of Hematology
|
December 10, 2014
Identification of a novel variant of epsilon-gamma-delta-beta thalassemia highlights limitations of next generation sequencing
Armin Zebisch, Eduard Schulz, Michela Grosso, et al.
Haematologica
|
April 21, 2022
Hereditary anemia caused by multilocus inheritance of <i>PIEZO1</i>, <i>SLC4A1</i> and <i>ABCB6</i> mutations: a diagnostic and therapeutic challenge
Barbara Eleni Rosato, Seth L Alper, Giovanna Tomaiuolo, et al.
Prenatal Diagnosis
|
May 21, 2005
Congenital nephrotic syndrome of Finnish type: detection of new nephrin mutations and prenatal diagnosis in an Italian family
Maddalena Gigante, Pantaleo Greco, Vincenza Defazio, et al.
Haematologica
|
March 7, 2007
Abnormalities of erythrocyte glycoconjugates are identical in two families with congenital dyserythropoietic anemia type II with different chromosomal localizations of the disease gene
Ewa Zdebska, Achille Iolascon, Justyna Spychalska, et al.
Expert Opinion on Biological Therapy
|
April 2, 2021
Recommendations for pregnancy in Fanconi anemia
Charbel F Matar, Rayan Bou-Fakhredin, Roberta Russo, et al.
American Journal of Medical Genetics. Part A
|
March 22, 2017
Novel compound heterozygous mutations in BCS1L gene causing Bjornstad syndrome in two siblings
Mariateresa Falco, Annamaria Franzè, Sandra Iossa, et al.
Page
of 29