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The novel non‐classical HLA‐G01:55 identified in a Chinese individual

HLA, 2024-08, Vol.104 (2), p.e15657-n/a

2024

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The novel non‐classical HLA‐F01:12 allele identified in a Brazilian individual

HLA, 2024-07, Vol.104 (1), p.e15611-n/a

2024

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The novel non‐classical HLA‐G01:46 identified in a Brazilian individual

HLA, 2024-07, Vol.104 (1), p.e15590-n/a

2024

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Analysis and prenatal diagnosis of PKLR gene mutations in a family with pyruvate kinase deficiency

Zhonghua yi xue yi chuan xue za zhi, 2016-02, Vol.33 (1), p.53

2016

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Whole USH2A Gene Sequencing Identifies Several New Deep Intronic Mutations

Human mutation, 2016-02, Vol.37 (2), p.184-193

2016

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A direct comparison of next generation sequencing enrichment methods using an aortopathy gene panel- clinical diagnostics perspective

BMC medical genomics, 2012-11, Vol.5 (1), p.50-50, Article 50

2012

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Next generation massively parallel sequencing of targeted exomes to identify genetic mutations in primary ciliary dyskinesia: implications for application to clinical testing

Genetics in medicine, 2011-03, Vol.13 (3), p.218-229

2011

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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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p53 Immunostaining guided laser capture microdissection (p53-LCM) defines the presence of p53 gene mutations in focal regions of primary prostate cancer positive for p53 protein

Prostate cancer and prostatic diseases, 2003-12, Vol.6 (4), p.281-285

2003

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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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The novel non‐classical HLA‐G01:55 identified in a Chinese individual

The novel non‐classical HLA‐F01:12 allele identified in a Brazilian individual

The novel non‐classical HLA‐G01:46 identified in a Brazilian individual

Analysis and prenatal diagnosis of PKLR gene mutations in a family with pyruvate kinase deficiency

Whole USH2A Gene Sequencing Identifies Several New Deep Intronic Mutations

A direct comparison of next generation sequencing enrichment methods using an aortopathy gene panel- clinical diagnostics perspective

Next generation massively parallel sequencing of targeted exomes to identify genetic mutations in primary ciliary dyskinesia: implications for application to clinical testing

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

p53 Immunostaining guided laser capture microdissection (p53-LCM) defines the presence of p53 gene mutations in focal regions of primary prostate cancer positive for p53 protein

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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