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Characterization of β-thalassaemia mutations using direct genomic sequencing of amplified single copy DNA

Nature (London), 1987-11, Vol.330 (6146), p.384-386

1987

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Hemoglobin Bart's Disease in an Italian Boy: Interaction between α-Thalassemia and Hereditary Persistence of Fetal Hemoglobin

The New England journal of medicine, 1990-07, Vol.323 (3), p.179-182

1990

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Evolution of a Genetic Disease in an Ethnic Isolate: β-Thalassemia in the Jews of Kurdistan

Proceedings of the National Academy of Sciences - PNAS, 1991-01, Vol.88 (1), p.310-314

1991

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Dominant Thalassemia-like Phenotypes Associated With Mutations in Exon 3 of the β-Globin Gene

Blood, 1992-06, Vol.79 (11), p.3014-3018

1992

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The Spectrum of β-Thalassemia Genes in China and Southeast Asia

Blood, 1986-10, Vol.68 (4), p.964-966

1986

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The spectrum of β-thalassaemia mutations in Sicily

British journal of haematology, 1988-07, Vol.69 (3), p.393-397

1988

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Molecular basis of hexosamininidase a deficiency and pseudodeficiency in the Berks County Pennsylvania Dutch

Human mutation, 1992, Vol.1 (4), p.298-302

1992

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A novel mutation in the invariant AG of the acceptor splice site of intron 4 of the β-hexosaminidase α-subunit gene in two unrelated American black GM2-gangliosidosis (tay-sachs disease) patients

American journal of human genetics, 1991-06, Vol.48 (6), p.1181-1185

1991

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Gene Defects in β-Thalassemia and Their Prenatal Diagnosis

Annals of the New York Academy of Sciences, 1990-12, Vol.612 (1), p.1-14

1990

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Hinf I polymorphism 3' to the human β-globin gene detected by the polymerase chain reaction (PCR)

Nucleic acids research, 1989-03, Vol.17 (6), p.2376-2376

1989

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Brief Report: Hemoglobin Bart's Disease in an Italian Boy

The New England journal of medicine, 1990-07, Vol.323 (3), p.179

1990

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Brief Report: Hemoglobin Bart's Disease in an Italian Boy: Interaction between [alpha]-Thalassemia and Hereditary Persistence of Fetal Hemoglobin

The New England journal of medicine, 1990-07, Vol.323 (3), p.179

1990

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Prenatal Diagnosis of Sickle Cell Anemia-1988

Annals of the New York Academy of Sciences, 1989-01, Vol.565 (1), p.44-47

1989

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The spectrum of β‐thalassaemia mutations in Sicily

British journal of haematology, 1988-07, Vol.69 (3), p.393-397

1988

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Characterization of (Beta)-Thalassaemia Mutations Using Direct Genomic Sequencing of Amplified Single Copy DNA

Nature (London), 1987-11, Vol.330 (6146), p.384-384

1987

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Prenatal Diagnosis of Hemoglobinopathies by DNA Analysis

Annals of the New York Academy of Sciences, 1985-01, Vol.445 (1), p.337-348

1985

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Use of Oligonucleotide Hybridization in the Characterization of a β°-Thalassemia Gene (β37 TGG→TGA) in a Saudi Arabian Family

Blood, 1986-04, Vol.67 (4), p.1185-1188

1986

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Effects of Hormone Therapy on Cognition and Mood in Recently Postmenopausal Women: Findings from the Randomized, Controlled KEEPS-Cognitive and Affective Study

PLoS medicine, 2015-06, Vol.12 (6), p.e1001833; discussion e1001833-e1001833; discussion e1001833

2015

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Influence of introgression and geological processes on phylogenetic relationships of Western North American mountain suckers (Pantosteus, Catostomidae)

PloS one, 2014-03, Vol.9 (3), p.e90061-e90061

2014

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Trends in central nervous system tumor incidence relative to other common cancers in adults, adolescents, and children in the United States, 2000 to 2010

Cancer, 2015-01, Vol.121 (1), p.102-112

2015

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In Vivo Activity of Amodiaquine against Ebola Virus Infection

Scientific reports, 2019-12, Vol.9 (1), p.20199-12, Article 20199

2019

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Infection, vaccination, and childhood arterial ischemic stroke: Results of the VIPS study

Neurology, 2015-10, Vol.85 (17), p.1459-1466

2015

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Assessment of SARS-CoV-2 Infection Prevalence in Homeless Shelters - Four U.S. Cities, March 27-April 15, 2020

MMWR. Morbidity and mortality weekly report, 2020-05, Vol.69 (17), p.521-522

2020

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Basic Technical Japanese

Language Learning, 1993, Vol.43 (3), p.433-437

1993

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Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy

The Journal of clinical investigation, 2014-11, Vol.124 (11), p.4693-4708

2014

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Characterization of β-thalassaemia mutations using direct genomic sequencing of amplified single copy DNA

Hemoglobin Bart's Disease in an Italian Boy: Interaction between α-Thalassemia and Hereditary Persistence of Fetal Hemoglobin

Evolution of a Genetic Disease in an Ethnic Isolate: β-Thalassemia in the Jews of Kurdistan

Dominant Thalassemia-like Phenotypes Associated With Mutations in Exon 3 of the β-Globin Gene

The Spectrum of β-Thalassemia Genes in China and Southeast Asia

The spectrum of β-thalassaemia mutations in Sicily

Molecular basis of hexosamininidase a deficiency and pseudodeficiency in the Berks County Pennsylvania Dutch

A novel mutation in the invariant AG of the acceptor splice site of intron 4 of the β-hexosaminidase α-subunit gene in two unrelated American black GM2-gangliosidosis (tay-sachs disease) patients

Gene Defects in β-Thalassemia and Their Prenatal Diagnosis

Hinf I polymorphism 3' to the human β-globin gene detected by the polymerase chain reaction (PCR)

Brief Report: Hemoglobin Bart's Disease in an Italian Boy

Brief Report: Hemoglobin Bart's Disease in an Italian Boy: Interaction between [alpha]-Thalassemia and Hereditary Persistence of Fetal Hemoglobin

Prenatal Diagnosis of Sickle Cell Anemia-1988

The spectrum of β‐thalassaemia mutations in Sicily

Characterization of (Beta)-Thalassaemia Mutations Using Direct Genomic Sequencing of Amplified Single Copy DNA

Prenatal Diagnosis of Hemoglobinopathies by DNA Analysis

Use of Oligonucleotide Hybridization in the Characterization of a β°-Thalassemia Gene (β37 TGG→TGA) in a Saudi Arabian Family

Effects of Hormone Therapy on Cognition and Mood in Recently Postmenopausal Women: Findings from the Randomized, Controlled KEEPS-Cognitive and Affective Study

Influence of introgression and geological processes on phylogenetic relationships of Western North American mountain suckers (Pantosteus, Catostomidae)

Trends in central nervous system tumor incidence relative to other common cancers in adults, adolescents, and children in the United States, 2000 to 2010

In Vivo Activity of Amodiaquine against Ebola Virus Infection

Infection, vaccination, and childhood arterial ischemic stroke: Results of the VIPS study

Assessment of SARS-CoV-2 Infection Prevalence in Homeless Shelters - Four U.S. Cities, March 27-April 15, 2020

Basic Technical Japanese

Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy

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