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High frequency of ribosomal protein gene deletions in Italian Diamond-Blackfan anemia patients detected by multiplex ligation-dependent probe amplification assay

Haematologica (Roma), 2012-12, Vol.97 (12), p.1813-1817

2012

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Familial tumoral calcinosis and testicular microlithiasis associated with a new mutation of GALNT3 in a white family

Journal of clinical pathology, 2006-04, Vol.59 (4), p.440-442

2006

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Multiplex ligation-dependent probe amplification enhances molecular diagnosis of Diamond-Blackfan anemia due to RPS19 deficiency

Haematologica (Roma), 2008-11, Vol.93 (11), p.1748-1750

2008

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Rapp-Hodgkin and AEC syndromes due to a new frameshift mutation in the TP63 gene

Journal of medical genetics, 2003-12, Vol.40 (12), p.e133-133

2003

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Diamond-Blackfan anemia: genotype-phenotype correlations in Italian patients with RPL5 and RPL11 mutations

Haematologica (Roma), 2010-02, Vol.95 (2), p.206-213

2010

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Diamond-Blackfan Anemia: Report of Seven Further Mutations in the RPS19 Gene and Evidence of Mutation Heterogeneity in the Italian Population

Blood cells, molecules, & diseases, 2000-10, Vol.26 (5), p.417-422

2000

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AEC syndrome: further evidence of a common genetic etiology with Rapp–Hodgkin syndrome

European journal of medical genetics, 2006-11, Vol.49 (6), p.520-522

2006

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Molecular basis of Diamond-Blackfan anemia: new findings from the Italian registry and a review of the literature

Haematologica (Roma), 2004-04, Vol.89 (4), p.480

2004

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The broad spectrum of autoimmune lymphoproliferative disease: molecular bases, clinical features and long-term follow-up in 31 patients

Haematologica (Roma), 2006-04, Vol.91 (4), p.538-541

2006

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Interactions between RPS19, mutated in Diamond-Blackfan anemia, and the PIM-1 oncoprotein

Haematologica (Roma), 2005-11, Vol.90 (11), p.1453-1462

2005

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Molecular analysis of EEC and related syndromes: Rapp-Hodgkin syndrome is due to mutations in P63

AMERICAN JOURNAL OF HUMAN GENETICS, 2002, Vol.71 (4), p.283

2002

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AEC syndrome: further evidence of a common genetic etiology with Rapp-Hodgkin syndrome

European journal of medical genetics, 2006, Vol.49 (6), p.520-522

2006

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Splitting the Riesz basis condition for systems of dilated functions through Dirichlet series

Journal of mathematical analysis and applications, 2022-03, Vol.507 (1), p.125733, Article 125733

2022

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Hausdorff--Young-type inequalities for vector-valued Dirichlet series

Transactions of the American Mathematical Society, 2020-08, Vol.373 (8), p.5627-5652

2020

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The algebra of bounded-type holomorphic functions on the ball

Proceedings of the American Mathematical Society, 2020-06, Vol.148 (6), p.2447-2457

2020

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Heritage Spanish Speakers’ Writing Development: Online vs. In-Person Peer-Tutoring Interventions

Íkala : revista de lenguaje y cultura, 2022-01, Vol.27 (1), p.49-65

2022

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Os cuidados de saúde primários em Portugal: uma história de mais de 50 anos – a perspetiva de um futuro médico de família

Revista portuguesa de medicina geral e familiar, 2023-09, Vol.39 (4), p.355-359

Silva, Manuel Alberto

2023

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Characterization of KIR+ NK cell subsets with a monoclonal antibody selectively recognizing KIR2DL1 and blocking the specific interaction with HLA‐C

HLA, 2022-08, Vol.100 (2), p.119-132

2022

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Marcinkiewicz–Zygmund inequalities in variable Lebesgue spaces

Banach journal of mathematical analysis, 2024-07, Vol.18 (3), Article 36

2024

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Decoupling inequalities with exponential constants

Mathematische annalen, 2023-06, Vol.386 (1-2), p.1041-1079

2023

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Variazioni Simenon. Appunti su tre adattamenti cinematografici

Parole rubate, 2021-12, Vol.12 (24), p.75-88

2021

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A Note on the Symmetry of Sequence Spaces

Mathematical Notes, 2021-07, Vol.110 (1-2), p.26-40

2021

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Ureteral and urethral recurrence after radical cystectomy: a systematic review

Current opinion in urology, 2020-05, Vol.30 (3), p.441

2020

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Unconditional Schauder frames of translates in Lp(ℝd)

Israel journal of mathematics, 2020-07, Vol.238 (2), p.687-713

2020

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Random unconditional convergence of vector-valued Dirichlet series

Journal of functional analysis, 2019-11, Vol.277 (9), p.3156-3178

2019

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High frequency of ribosomal protein gene deletions in Italian Diamond-Blackfan anemia patients detected by multiplex ligation-dependent probe amplification assay

Familial tumoral calcinosis and testicular microlithiasis associated with a new mutation of GALNT3 in a white family

Multiplex ligation-dependent probe amplification enhances molecular diagnosis of Diamond-Blackfan anemia due to RPS19 deficiency

Rapp-Hodgkin and AEC syndromes due to a new frameshift mutation in the TP63 gene

Diamond-Blackfan anemia: genotype-phenotype correlations in Italian patients with RPL5 and RPL11 mutations

Diamond-Blackfan Anemia: Report of Seven Further Mutations in the RPS19 Gene and Evidence of Mutation Heterogeneity in the Italian Population

AEC syndrome: further evidence of a common genetic etiology with Rapp–Hodgkin syndrome

Molecular basis of Diamond-Blackfan anemia: new findings from the Italian registry and a review of the literature

The broad spectrum of autoimmune lymphoproliferative disease: molecular bases, clinical features and long-term follow-up in 31 patients

Interactions between RPS19, mutated in Diamond-Blackfan anemia, and the PIM-1 oncoprotein

Molecular analysis of EEC and related syndromes: Rapp-Hodgkin syndrome is due to mutations in P63

AEC syndrome: further evidence of a common genetic etiology with Rapp-Hodgkin syndrome

Splitting the Riesz basis condition for systems of dilated functions through Dirichlet series

Hausdorff--Young-type inequalities for vector-valued Dirichlet series

The algebra of bounded-type holomorphic functions on the ball

Heritage Spanish Speakers’ Writing Development: Online vs. In-Person Peer-Tutoring Interventions

Os cuidados de saúde primários em Portugal: uma história de mais de 50 anos – a perspetiva de um futuro médico de família

Characterization of KIR+ NK cell subsets with a monoclonal antibody selectively recognizing KIR2DL1 and blocking the specific interaction with HLA‐C

Marcinkiewicz–Zygmund inequalities in variable Lebesgue spaces

Decoupling inequalities with exponential constants

Variazioni Simenon. Appunti su tre adattamenti cinematografici

A Note on the Symmetry of Sequence Spaces

Ureteral and urethral recurrence after radical cystectomy: a systematic review

Unconditional Schauder frames of translates in Lp(ℝd)

Random unconditional convergence of vector-valued Dirichlet series

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