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A mild form of Mucopolysaccharidosis IIIB diagnosed with targeted next-generation sequencing of linked genomic regions

European journal of human genetics : EJHG, 2012-01, Vol.20 (1), p.58-63

2012

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A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement

European journal of human genetics : EJHG, 2011-10, Vol.19 (10), p.1074-1081

2011

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Targeted high throughput sequencing of a cancer-related exome subset by specific sequence capture with a fully automated microarray platform

Genomics (San Diego, Calif.), 2010-04, Vol.95 (4), p.241-246

2010

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Somatic Mosaicism of Androgen Receptor CAG Repeats in Colorectal Carcinoma Epithelial Cells From Men

The Journal of surgical research, 2009-06, Vol.154 (1), p.38-44

2009

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Somatic Mutations in SQSTM1 Detected in Affected Tissues From Patients With Sporadic Paget's Disease of Bone

Journal of bone and mineral research, 2009-03, Vol.24 (3), p.484-494

2009

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Allelotype Analysis of Common Epithelial Ovarian Cancers with Special Reference to Comparison between Clear Cell Adenocarcinoma with Other Histological Types

Cancer science, 2002-07, Vol.93 (7), p.798-806

2002

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Rapid, Efficient Genotyping of Clinical Tumor Samples by Laser-Capture Microdissection/PCR/SSCP

Experimental and molecular pathology, 2001-06, Vol.70 (3), p.195-200

2001

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Determination of Ligand-Binding Specificity by Alternative Splicing: Two Distinct Growth Factor Receptors Encoded by a Single Gene

Proceedings of the National Academy of Sciences - PNAS, 1992-01, Vol.89 (1), p.246-250

1992

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Human substance P receptor (NK-1): organization of the gene, chromosome localization and functional expression of cDNA clones

Biochemistry (Easton), 1991-11, Vol.30 (44), p.10640-10646

1991

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Changing the insulin receptor to possess insulin-like growth factor I ligand specificity

Biochemistry (Easton), 1990-08, Vol.29 (32), p.7363-7366

1990

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Generalized Resistance to Thyroid Hormone Associated with a Mutation in the Ligand-Binding Domain of the Human Thyroid Hormone Receptor β

Proceedings of the National Academy of Sciences - PNAS, 1989-11, Vol.86 (22), p.8977-8981

1989

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A Secreted Form of the Human Lymphocyte Cell Surface Molecule CD8 Arises from Alternative Splicing

Proceedings of the National Academy of Sciences - PNAS, 1989-02, Vol.86 (3), p.998-1002

1989

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Deletion in the First Cysteine-Rich Repeat of Low Density Lipoprotein Receptor Impairs Its Transport but not Lipoprotein Binding in Fibroblasts from a Subject with Familial Hypercholesterolemia

Proceedings of the National Academy of Sciences - PNAS, 1988-11, Vol.85 (21), p.7912-7916

1988

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Structure and Expression of the Human Thymocyte Antigens CD1a, CD1b, and CD1c

Proceedings of the National Academy of Sciences - PNAS, 1987-12, Vol.84 (24), p.9189-9193

1987

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Sequence of a New World Primate Insulin Having Low Biological Potency and Immunoreactivity

Proceedings of the National Academy of Sciences - PNAS, 1987-11, Vol.84 (21), p.7423-7427

1987

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Chimeric Antibody with Human Constant Regions and Mouse Variable Regions Directed against Carcinoma-Associated Antigen 17-1A

Proceedings of the National Academy of Sciences - PNAS, 1987-01, Vol.84 (1), p.214-218

1987

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A mild form of Mucopolysaccharidosis IIIB diagnosed with targeted next-generation sequencing of linked genomic regions

A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement

Targeted high throughput sequencing of a cancer-related exome subset by specific sequence capture with a fully automated microarray platform

Somatic Mosaicism of Androgen Receptor CAG Repeats in Colorectal Carcinoma Epithelial Cells From Men

Somatic Mutations in SQSTM1 Detected in Affected Tissues From Patients With Sporadic Paget's Disease of Bone

Allelotype Analysis of Common Epithelial Ovarian Cancers with Special Reference to Comparison between Clear Cell Adenocarcinoma with Other Histological Types

Rapid, Efficient Genotyping of Clinical Tumor Samples by Laser-Capture Microdissection/PCR/SSCP

Determination of Ligand-Binding Specificity by Alternative Splicing: Two Distinct Growth Factor Receptors Encoded by a Single Gene

Human substance P receptor (NK-1): organization of the gene, chromosome localization and functional expression of cDNA clones

Changing the insulin receptor to possess insulin-like growth factor I ligand specificity

Generalized Resistance to Thyroid Hormone Associated with a Mutation in the Ligand-Binding Domain of the Human Thyroid Hormone Receptor β

A Secreted Form of the Human Lymphocyte Cell Surface Molecule CD8 Arises from Alternative Splicing

Deletion in the First Cysteine-Rich Repeat of Low Density Lipoprotein Receptor Impairs Its Transport but not Lipoprotein Binding in Fibroblasts from a Subject with Familial Hypercholesterolemia

Structure and Expression of the Human Thymocyte Antigens CD1a, CD1b, and CD1c

Sequence of a New World Primate Insulin Having Low Biological Potency and Immunoreactivity

Chimeric Antibody with Human Constant Regions and Mouse Variable Regions Directed against Carcinoma-Associated Antigen 17-1A

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