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Device profile of the Inspiris Resilia valve for aortic valve replacement: overview of its safety and efficacy

Expert review of medical devices, 2021-03, Vol.18 (3), p.239-244

2021

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Severe hereditary spherocytosis and distal renal tubular acidosis associated with the total absence of band 3

Blood, 2000-08, Vol.96 (4), p.1602-1604

2000

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P331 IMPLANT OF THE BALLOON EXPANDABLE BIOLOGICAL PROSTHESIS FOR TAVI (EDWARDS SAPIEN 3 ULTRA) PRE–ASSEMBLED ON EXPANSION BALLOON, IN “OPEN” SITUATION WITH PATIENT IN CEC

European heart journal supplements, 2022-05, Vol.24 (Supplement_C)

2022

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A new PKLR gene mutation in the R‐type promoter region affects the gene transcription causing pyruvate kinase deficiency

British journal of haematology, 2000-09, Vol.110 (4), p.993-997

2000

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Elliptocytosis in patients with C-terminal domain mutations of protein 4.1 correlates with encoded messenger RNA levels rather than with alterations in primary protein structure

Blood, 2000-03, Vol.95 (5), p.1834-1841

2000

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Modulation of clinical expression and band 3 deficiency in hereditary spherocytosis

Blood, 1997-07, Vol.90 (1), p.414-420

1997

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Homozygosity for two mild glucocerebrosidase mutations of probable Iberian origin

Clinical genetics, 1999-07, Vol.56 (1), p.100-102

1999

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Hb Vila Real [β36(C2)Pro→His]: A Newly Discovered High Oxygen Affinity Variant

Hemoglobin, 2000-01, Vol.24 (1), p.59-63

2000

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Dominant β‐thalassaemia trait in a Portuguese family is caused by a deletion of (G)TGGCTGGTGT(G) and an insertion of (G)GCAG(G) in codons 134, 135, 136 and 137 of the β‐globin gene

British journal of haematology, 1991-10, Vol.79 (2), p.306-310

1991

Volltextzugriff (PDF)

Hb Lepore-Baltimore (δ68Leu-β84Thr) and Hb Lepore-Washington-Boston (δ87Gln-βIVS-II-8) in Central Portugal and Spanish Alta Extremadura

Human genetics, 1997-05, Vol.99 (5), p.669-673

1997

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Hemoglobin Disorders in Macao

Hemoglobin, 1997-01, Vol.21 (3), p.271-279

1997

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Genetic Heterogeneity of β-Thalassemia in Populations of the Iberian Peninsula

Hemoglobin, 1997-01, Vol.21 (3), p.261-269

1997

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HB Coimbra or α2β299(Gl)ASP→GLU, A Newly Discovered High Oxygen Affinity Variant

Hemoglobin, 1991, Vol.15 (6), p.487-496

1991

Volltextzugriff (PDF)

Molecular heterogeneity underlying the G6PD Mediterranean phenotype

Human genetics, 1992-03, Vol.88 (6), p.688-690

1992

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βs haplotypes in various world populations

Human genetics, 1992-04, Vol.89 (1), p.99-104

1992

Volltextzugriff (PDF)

Exclusion of the first EGF domain of factor VII by a splice site mutation causes lethal factor VII deficiency

Blood, 1998-08, Vol.92 (3), p.920-926

1998

Volltextzugriff (PDF)

Onset of X-linked sideroblastic anemia in the fourth decade

Haematologica (Roma), 2004-10, Vol.89 (10), p.1261

2004

Volltextzugriff (PDF)

A variant of spectrin low‐expression allele αLELY carrying a hereditary elliptocytosis mutation in codon 28

British journal of haematology, 1994-11, Vol.88 (3), p.534-540

1994

Volltextzugriff (PDF)

Congenital deficiency of vitamin K-dependent coagulation factors and protein C

Thrombosis and haemostasis, 1984-01, Vol.51 (3), p.343

1984

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Exclusion of the First EGF Domain of Factor VII by a Splice Site Mutation Causes Lethal Factor VII Deficiency

Blood, 1998-08, Vol.92 (3), p.920-926

1998

Volltextzugriff (PDF)

A splicing alteration of 4.1R pre-mRNA generates 2 protein isoforms with distinct assembly to spindle poles in mitotic cells

Blood, 2002-10, Vol.100 (7), p.2629-2636

2002

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PK‐LR gene mutations in pyruvate kinase deficient Portuguese patients

British journal of haematology, 1999-06, Vol.105 (3), p.591-595

1999

Volltextzugriff (PDF)

Congenital Anemias in Macau

Hemoglobin, 1988, Vol.12 (5-6), p.637-643

1988

Volltextzugriff (PDF)

Modulation of Clinical Expression and Band 3 Deficiency in Hereditary Spherocytosis

Blood, 1997-07, Vol.90 (1), p.414-420

1997

Volltextzugriff (PDF)

β-Thalassemia mutations in the Portuguese; high frequencies of two alleles in restricted populations

Hemoglobin, 1993-02, Vol.17 (1), p.31-40

1993

Volltextzugriff (PDF)

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Device profile of the Inspiris Resilia valve for aortic valve replacement: overview of its safety and efficacy

Severe hereditary spherocytosis and distal renal tubular acidosis associated with the total absence of band 3

P331 IMPLANT OF THE BALLOON EXPANDABLE BIOLOGICAL PROSTHESIS FOR TAVI (EDWARDS SAPIEN 3 ULTRA) PRE–ASSEMBLED ON EXPANSION BALLOON, IN “OPEN” SITUATION WITH PATIENT IN CEC

A new PKLR gene mutation in the R‐type promoter region affects the gene transcription causing pyruvate kinase deficiency

Elliptocytosis in patients with C-terminal domain mutations of protein 4.1 correlates with encoded messenger RNA levels rather than with alterations in primary protein structure

Modulation of clinical expression and band 3 deficiency in hereditary spherocytosis

Homozygosity for two mild glucocerebrosidase mutations of probable Iberian origin

Hb Vila Real [β36(C2)Pro→His]: A Newly Discovered High Oxygen Affinity Variant

Dominant β‐thalassaemia trait in a Portuguese family is caused by a deletion of (G)TGGCTGGTGT(G) and an insertion of (G)GCAG(G) in codons 134, 135, 136 and 137 of the β‐globin gene

Hb Lepore-Baltimore (δ68Leu-β84Thr) and Hb Lepore-Washington-Boston (δ87Gln-βIVS-II-8) in Central Portugal and Spanish Alta Extremadura

Hemoglobin Disorders in Macao

Genetic Heterogeneity of β-Thalassemia in Populations of the Iberian Peninsula

HB Coimbra or α2β299(Gl)ASP→GLU, A Newly Discovered High Oxygen Affinity Variant

Molecular heterogeneity underlying the G6PD Mediterranean phenotype

βs haplotypes in various world populations

Exclusion of the first EGF domain of factor VII by a splice site mutation causes lethal factor VII deficiency

Onset of X-linked sideroblastic anemia in the fourth decade

A variant of spectrin low‐expression allele αLELY carrying a hereditary elliptocytosis mutation in codon 28

Congenital deficiency of vitamin K-dependent coagulation factors and protein C

Exclusion of the First EGF Domain of Factor VII by a Splice Site Mutation Causes Lethal Factor VII Deficiency

A splicing alteration of 4.1R pre-mRNA generates 2 protein isoforms with distinct assembly to spindle poles in mitotic cells

PK‐LR gene mutations in pyruvate kinase deficient Portuguese patients

Congenital Anemias in Macau

Modulation of Clinical Expression and Band 3 Deficiency in Hereditary Spherocytosis

β-Thalassemia mutations in the Portuguese; high frequencies of two alleles in restricted populations

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