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

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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