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Molecular characterization of 355 mucopolysaccharidosis patients reveals 104 novel mutations

Journal of inherited metabolic disease, 2013-03, Vol.36 (2), p.179-187

2013

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Dysregulated lysosomal exocytosis drives protease-mediated cartilage pathogenesis in multiple lysosomal disorders

iScience, 2024-04, Vol.27 (4), p.109293-109293, Article 109293

2024

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Measurement of Elevated Concentrations of Urine Keratan Sulfate by UPLC-MSMS in Lysosomal Storage Disorders (LSDs): Comparison of Urine Keratan Sulfate Levels in MPS IVA Versus Other LSDs

JIMD Reports, Volume 34, 2017-01, Vol.34, p.11-18

2017

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Hematopoietic stem cell transplant for Hurler syndrome: does using bone marrow or umbilical cord blood make a difference?

Blood advances, 2022-12, Vol.6 (23), p.6023-6027

2022

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Hereditary fructose intolerance mimicking a biochemical phenotype of mucolipidosis: A review of the literature of secondary causes of lysosomal enzyme activity elevation in serum

American journal of medical genetics. Part A, 2017-02, Vol.173 (2), p.501-509

2017

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The challenges and opportunities of offering and integrating training in clinical molecular genetics and clinical cytogenetics: A survey of LGG Fellowship Program Directors

Genetics in Medicine Open, 2024, Vol.2, p.101820, Article 101820

2024

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Protein modeling and clinical description of a novel in‐frame GLB1 deletion causing GM1 gangliosidosis type II

Molecular genetics & genomic medicine, 2018-11, Vol.6 (6), p.1229-1235

2018

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Diagnosis, Treatment, and Long-Term Outcomes of Late-Onset (Type III) Multiple Acyl-CoA Dehydrogenase Deficiency

Journal of child neurology, 2010-08, Vol.25 (8), p.954-960

2010

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Repair of DNA double-strand breaks within the (GAATTC)n sequence results in frequent deletion of the triplet-repeat sequence

Nucleic acids research, 2008-02, Vol.36 (2), p.489-500

2008

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Protein modeling and clinical description of a novel in‐frame GLB 1 deletion causing GM 1 gangliosidosis type II

Molecular genetics & genomic medicine, 2018-11, Vol.6 (6), p.1229-1235

2018

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Replication in mammalian cells recapitulates the locus-specific differences in somatic instability of genomic GAA triplet-repeats

Nucleic acids research, 2006-12, Vol.34 (21), p.6352-6361

2006

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Replication-mediated instability of the GAA triplet repeat mutation in Friedreich ataxia

Nucleic acids research, 2004-01, Vol.32 (19), p.5962-5971

2004

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E. coli mismatch repair acts downstream of replication fork stalling to stabilize the expanded (GAA.TTC)(n) sequence

Mutation research, 2009-02, Vol.661 (1-2), p.71

2009

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Deficiency of RecA-dependent RecFOR and RecBCD pathways causes increased instability of the (GAATTC)n sequence when GAA is the lagging strand template

Nucleic acids research, 2007-11, Vol.35 (20), p.6884-6894

2007

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Molecular characterization of 355 mucopolysaccharidosis patients reveals 104 novel mutations: Mucopolysaccharidoses

Journal of inherited metabolic disease, 2013, Vol.36 (2), p.179-187

2013

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E. coli mismatch repair acts downstream of replication fork stalling to stabilize the expanded (GAA·TTC) n sequence

Mutation research, 2009-02, Vol.661 (1), p.71-77

2009

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Diagnosis of brain metastases from a primary hemangiosarcoma of the spleen with magnetic resonance imaging

Cancer, 1993-01, Vol.71 (1), p.138-141

1993

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Recurrent Pilonidal Sinus: Etiology and Treatment

Digestive surgery, 1995, Vol.12 (2), p.117-120

1995

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Chemotherapy elicits pro-metastatic extracellular vesicles in breast cancer models

Nature cell biology, 2019-02, Vol.21 (2), p.190-202

2019

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Receptor interacting protein 3 protects mice from high‐fat diet‐induced liver injury

Hepatology (Baltimore, Md.), 2016-11, Vol.64 (5), p.1518-1533

2016

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MAIT cell activation augments adenovirus vector vaccine immunogenicity

Science (American Association for the Advancement of Science), 2021-01, Vol.371 (6528), p.521-526

2021

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Validation of Carbon Trace Gas Profile Retrievals from the NOAA-Unique Combined Atmospheric Processing System for the Cross-Track Infrared Sounder

Remote sensing (Basel, Switzerland), 2020-10, Vol.12 (19), p.3245

2020

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NRP1 acts cell autonomously in endothelium to promote tip cell function during sprouting angiogenesis

Blood, 2013-03, Vol.121 (12), p.2352-2362

2013

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A scientific algorithm to simultaneously retrieve carbon monoxide and methane from TROPOMI onboard Sentinel-5 Precursor

Atmospheric measurement techniques, 2019-12, Vol.12 (12), p.6771-6802

2019

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Molecular characterization of 355 mucopolysaccharidosis patients reveals 104 novel mutations

Dysregulated lysosomal exocytosis drives protease-mediated cartilage pathogenesis in multiple lysosomal disorders

Measurement of Elevated Concentrations of Urine Keratan Sulfate by UPLC-MSMS in Lysosomal Storage Disorders (LSDs): Comparison of Urine Keratan Sulfate Levels in MPS IVA Versus Other LSDs

Hematopoietic stem cell transplant for Hurler syndrome: does using bone marrow or umbilical cord blood make a difference?

Hereditary fructose intolerance mimicking a biochemical phenotype of mucolipidosis: A review of the literature of secondary causes of lysosomal enzyme activity elevation in serum

The challenges and opportunities of offering and integrating training in clinical molecular genetics and clinical cytogenetics: A survey of LGG Fellowship Program Directors

Protein modeling and clinical description of a novel in‐frame GLB1 deletion causing GM1 gangliosidosis type II

Diagnosis, Treatment, and Long-Term Outcomes of Late-Onset (Type III) Multiple Acyl-CoA Dehydrogenase Deficiency

Repair of DNA double-strand breaks within the (GAATTC)n sequence results in frequent deletion of the triplet-repeat sequence

Protein modeling and clinical description of a novel in‐frame GLB 1 deletion causing GM 1 gangliosidosis type II

Replication in mammalian cells recapitulates the locus-specific differences in somatic instability of genomic GAA triplet-repeats

Replication-mediated instability of the GAA triplet repeat mutation in Friedreich ataxia

E. coli mismatch repair acts downstream of replication fork stalling to stabilize the expanded (GAA.TTC)(n) sequence

Deficiency of RecA-dependent RecFOR and RecBCD pathways causes increased instability of the (GAATTC)n sequence when GAA is the lagging strand template

Molecular characterization of 355 mucopolysaccharidosis patients reveals 104 novel mutations: Mucopolysaccharidoses

E. coli mismatch repair acts downstream of replication fork stalling to stabilize the expanded (GAA·TTC) n sequence

Diagnosis of brain metastases from a primary hemangiosarcoma of the spleen with magnetic resonance imaging

Recurrent Pilonidal Sinus: Etiology and Treatment

Chemotherapy elicits pro-metastatic extracellular vesicles in breast cancer models

Receptor interacting protein 3 protects mice from high‐fat diet‐induced liver injury

MAIT cell activation augments adenovirus vector vaccine immunogenicity

Validation of Carbon Trace Gas Profile Retrievals from the NOAA-Unique Combined Atmospheric Processing System for the Cross-Track Infrared Sounder

NRP1 acts cell autonomously in endothelium to promote tip cell function during sprouting angiogenesis

Comparative Flavivirus-Host Protein Interaction Mapping Reveals Mechanisms of Dengue and Zika Virus Pathogenesis

A scientific algorithm to simultaneously retrieve carbon monoxide and methane from TROPOMI onboard Sentinel-5 Precursor

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