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Myeloid neoplasms with germline DDX41 mutation

International journal of hematology, 2017-08, Vol.106 (2), p.163-174

2017

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Identification of monogenic diabetes in an Australian cohort using the Exeter maturity-onset diabetes of the young (MODY) probability calculator and next-generation sequencing gene panel testing

Acta diabetologica, 2024-02, Vol.61 (2), p.181-188

2024

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The Genomic Landscape of Sporadic Prolactinomas

Endocrine pathology, 2019-12, Vol.30 (4), p.318-328

2019

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Expression Profiling of Notch Signalling Pathway and Gamma-Secretase Activity in the Brain of Ts1Cje Mouse Model of Down Syndrome

Journal of molecular neuroscience, 2019-04, Vol.67 (4), p.632-642

2019

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SAGE Analysis of Genes Differentially Expressed in Presymptomatic TgSOD1G93A Transgenic Mice Identified Cellular Processes Involved in Early Stage of ALS Pathology

Journal of molecular neuroscience, 2010-05, Vol.41 (1), p.172-182

2010

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Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients

Journal of molecular medicine (Berlin, Germany), 2002-02, Vol.80 (2), p.124-131

2002

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Metallophilic macrophages are fully developed in the thymus of autoimmune regulator (Aire)-deficient mice

Histochemistry and cell biology, 2009-05, Vol.131 (5), p.643-649

2009

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Isolation and characterization of the UBASH3A gene on 21q22.3 encoding a potential nuclear protein with a novel combination of domains

Human genetics, 2001-03, Vol.108 (2), p.140-147

2001

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Linearization and purification of BAC DNA for the development of transgenic mice

Transgenic research, 1999-04, Vol.8 (2), p.147-150

1999

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A common mutation in Sardinian autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients

Human genetics, 1998-10, Vol.103 (4), p.428-434

1998

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SAGE Analysis of Genes Differentially Expressed in Presymptomatic TgSOD1 super(G93A) Transgenic Mice Identified Cellular Processes Involved in Early Stage of ALS Pathology

Journal of molecular neuroscience, 2010-05, Vol.41 (1), p.172-182

2010

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SAGE Analysis of Genes Differentially Expressed in Presymptomatic TgSOD1^sup G93A^ Transgenic Mice Identified Cellular Processes Involved in Early Stage of ALS Pathology

Journal of molecular neuroscience, 2010-05, Vol.41 (1), p.172

2010

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A testis-specific gene, TPTE, encodes a putative transmembrane tyrosine phosphatase and maps to the pericentromeric region of human chromosomes 21 and 13, and to chromosomes 15, 22, and Y

Human genetics, 1999-11, Vol.105 (5), p.399-409

1999

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Identification and characterization of a novel cyclic nucleotide phosphodiesterase gene (PDE9A) that maps to 21q22.3 : alternative splicing of mRNA transcripts, genomic structure and sequence

Human genetics, 1998-10, Vol.103 (4), p.386-392

1998

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Localization of a novel human RNA-editing deaminase (hRED2 or ADARB2) to chromosome 10p15

Human genetics, 1997-09, Vol.100 (3-4), p.398-400

1997

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Structure of the human Lanosterol Synthase gene and its analysis as a candidate for holoprosencephaly (HPE1)

Human genetics, 1999-11, Vol.105 (5), p.489-495

1999

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Isolation of a human gene (HES1) with homology to an Escherichia coli and a zebrafish protein that maps to chromosome 21q22.3

Human genetics, 1997-05, Vol.99 (5), p.616-623

1997

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Mucopolysaccharidosis type I (Hurler syndrome) : linkage disequilibrium indicates the presence of a major allele

Human genetics, 1992-03, Vol.88 (6), p.701-702

1992

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Linkage, but not gene order, of homologous loci, including alpha-L-iduronidase (Idua), is conserved in the Huntington disease region of the mouse and human genomes

Mammalian genome, 1992, Vol.3 (1), p.23-27

1992

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Linkage, but not gene order, of homologous loci, including ?-L-iduronidase (Idua), is conserved in the Huntington disease region of the mouse and human genomes

Mammalian genome, 1992, Vol.3 (1), p.23-27

1992

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Species-specific traits predict whole-assemblage detritus processing by pond invertebrates

Oecologia, 2022-08, Vol.199 (4), p.951-963

2022

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Improving the management and outcomes of complex non-pedunculated colorectal polyps at a regional hospital in British Columbia

Surgical endoscopy, 2024-03, Vol.38 (3), p.1257-1263

2024

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Climate processes and drivers in the Pacific and global warming: a review for informing Pacific planning agencies

Climatic change, 2023-02, Vol.176 (2), p.5, Article 5

2023

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Debris-flow simulations on Cheekye River, British Columbia

Landslides, 2013-12, Vol.10 (6), p.685-699

2013

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Progressive myopia due to posterior staphyloma in Type I Osteogenesis Imperfecta

International ophthalmology, 2005-10, Vol.26 (4-5), p.167-169

2005

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Myeloid neoplasms with germline DDX41 mutation

Identification of monogenic diabetes in an Australian cohort using the Exeter maturity-onset diabetes of the young (MODY) probability calculator and next-generation sequencing gene panel testing

The Genomic Landscape of Sporadic Prolactinomas

Expression Profiling of Notch Signalling Pathway and Gamma-Secretase Activity in the Brain of Ts1Cje Mouse Model of Down Syndrome

SAGE Analysis of Genes Differentially Expressed in Presymptomatic TgSOD1G93A Transgenic Mice Identified Cellular Processes Involved in Early Stage of ALS Pathology

Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients

Metallophilic macrophages are fully developed in the thymus of autoimmune regulator (Aire)-deficient mice

Isolation and characterization of the UBASH3A gene on 21q22.3 encoding a potential nuclear protein with a novel combination of domains

Linearization and purification of BAC DNA for the development of transgenic mice

A common mutation in Sardinian autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients

SAGE Analysis of Genes Differentially Expressed in Presymptomatic TgSOD1 super(G93A) Transgenic Mice Identified Cellular Processes Involved in Early Stage of ALS Pathology

SAGE Analysis of Genes Differentially Expressed in Presymptomatic TgSOD1^sup G93A^ Transgenic Mice Identified Cellular Processes Involved in Early Stage of ALS Pathology

A testis-specific gene, TPTE, encodes a putative transmembrane tyrosine phosphatase and maps to the pericentromeric region of human chromosomes 21 and 13, and to chromosomes 15, 22, and Y

Identification and characterization of a novel cyclic nucleotide phosphodiesterase gene (PDE9A) that maps to 21q22.3 : alternative splicing of mRNA transcripts, genomic structure and sequence

Localization of a novel human RNA-editing deaminase (hRED2 or ADARB2) to chromosome 10p15

Structure of the human Lanosterol Synthase gene and its analysis as a candidate for holoprosencephaly (HPE1)

Isolation of a human gene (HES1) with homology to an Escherichia coli and a zebrafish protein that maps to chromosome 21q22.3

Mucopolysaccharidosis type I (Hurler syndrome) : linkage disequilibrium indicates the presence of a major allele

Linkage, but not gene order, of homologous loci, including alpha-L-iduronidase (Idua), is conserved in the Huntington disease region of the mouse and human genomes

Linkage, but not gene order, of homologous loci, including ?-L-iduronidase (Idua), is conserved in the Huntington disease region of the mouse and human genomes

Species-specific traits predict whole-assemblage detritus processing by pond invertebrates

Improving the management and outcomes of complex non-pedunculated colorectal polyps at a regional hospital in British Columbia

Climate processes and drivers in the Pacific and global warming: a review for informing Pacific planning agencies

Debris-flow simulations on Cheekye River, British Columbia

Progressive myopia due to posterior staphyloma in Type I Osteogenesis Imperfecta

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