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Simultaneous Mutation Detection in 90 Retinal Disease Genes in Multiple Patients Using a Custom-designed 300-kb Retinal Resequencing Chip

Ophthalmology (Rochester, Minn.), 2011, Vol.118 (1), p.160-167.e3

2011

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Evidence of digenic inheritance in Alport syndrome

Journal of medical genetics, 2015-03, Vol.52 (3), p.163-174

2015

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Beyond CSF and Neuroimaging Assessment: Evaluating Plasma miR-145-5p as a Potential Biomarker for Mild Cognitive Impairment and Alzheimer’s Disease

ACS chemical neuroscience, 2024-03, Vol.15 (5), p.1042-1054

2024

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Mitochondrial Disease Sequence Data Resource (MSeqDR): A global grass-roots consortium to facilitate deposition, curation, annotation, and integrated analysis of genomic data for the mitochondrial disease clinical and research communities

Molecular genetics and metabolism, 2015-03, Vol.114 (3), p.388-396

2015

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503. Circulating microRNAs as Potential Biomarkers of Differential Susceptibility to Traumatic Stress

Biological psychiatry (1969), 2017-05, Vol.81 (10), p.S204-S205

2017

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Preimplantation genetic diagnosis for mitochondrial DNA disorders: ethical guidance for clinical practice

European journal of human genetics : EJHG, 2009-12, Vol.17 (12), p.1550-1559

2009

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Circulating microRNAs as Potential Biomarkers of Differential Susceptibility to Traumatic Stress

Biological psychiatry (1969), 2017, Vol.81 (10), p.S204-S205

2017

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TGF-β stimulation in human and murine cells reveals commonly affected biological processes and pathways at transcription level

BMC systems biology, 2014-05, Vol.8 (1), p.55-55

2014

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AAV2-mediated delivery of nucleic acid or protein to the mitochondrial matrix as a treatment for Lebers Hereditary Optic Neuropathy

Mitochondrion, 2015-09, Vol.24, p.S24

2015

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279. Efficient and Safe Lentiviral Vector-Mediated Hematopoietic Stem Cell Gene Therapy in MNGIE Mice

Molecular therapy, 2015-05, Vol.23, p.S111-S112

2015

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Germline Mitochondrial DNA Mutations As a Novel First Event in Childhood Myelodysplastic Syndrome

Blood, 2011-11, Vol.118 (21), p.1711-1711

2011

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TGF-[beta] stimulation in human and murine cells reveals commonly affected biological processes and pathways at transcription level

BMC systems biology, 2014-05, Vol.8

2014

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Definition of subchromosomal intervals around the myotonic dystrophy gene region at 19q

Genomics (San Diego, Calif.), 1989-04, Vol.4 (3), p.384-396

1989

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Molecular Genetics of X-Linked Hearing Impairment

Annals of the New York Academy of Sciences, 1991-01, Vol.630 (1), p.176-190

1991

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Tight linkage between myotonic dystrophy and apolipoprotein E genes revealed with allele-specific oligonucleotides

Human genetics, 1988-09, Vol.80 (1), p.49-52

1988

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Selective Oxidation of Methane by the Bis(μ-oxo)dicopper Core Stabilized on ZSM-5 and Mordenite Zeolites

Journal of the American Chemical Society, 2005-02, Vol.127 (5), p.1394-1395

2005

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Oxygen Precursor to the Reactive Intermediate in Methanol Synthesis by Cu-ZSM-5

Journal of the American Chemical Society, 2010-10, Vol.132 (42), p.14736-14738

2010

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Healthcare needs, expectations, utilization, and experienced treatment effects in patients with hereditary spastic paraplegia: a web-based survey in the Netherlands

Orphanet journal of rare diseases, 2021-06, Vol.16 (1), p.1-283, Article 283

2021

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Cu-ZSM-5: A biomimetic inorganic model for methane oxidation

Journal of catalysis, 2011-12, Vol.284 (2), p.157-164

2011

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Epidemiology of knee osteoarthritis in general practice: a registry-based study

BMJ open, 2020-01, Vol.10 (1), p.e031734-e031734

2020

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Transition-Metal Ions in Zeolites: Coordination and Activation of Oxygen

Inorganic chemistry, 2010-04, Vol.49 (8), p.3573-3583

2010

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Mapping the aerodynamic roughness of the Greenland Ice Sheet surface using ICESat-2: evaluation over the K-transect

The cryosphere, 2021-06, Vol.15 (6), p.2601-2621

2021

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Cardiologists' perceptions on multidisciplinary collaboration in heart failure care - a qualitative study

BMC health services research, 2021-02, Vol.21 (1), p.170-170, Article 170

2021

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Correlated X‑ray Ptychography and Fluorescence Nano-Tomography on the Fragmentation Behavior of an Individual Catalyst Particle during the Early Stages of Olefin Polymerization

Journal of the American Chemical Society, 2020-02, Vol.142 (8), p.3691-3695

2020

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General practitioners' perceptions about their role in current and future heart failure care: an exploratory qualitative study

BMC health services research, 2019-06, Vol.19 (1), p.432-432, Article 432

2019

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Simultaneous Mutation Detection in 90 Retinal Disease Genes in Multiple Patients Using a Custom-designed 300-kb Retinal Resequencing Chip

Evidence of digenic inheritance in Alport syndrome

Beyond CSF and Neuroimaging Assessment: Evaluating Plasma miR-145-5p as a Potential Biomarker for Mild Cognitive Impairment and Alzheimer’s Disease

Mitochondrial Disease Sequence Data Resource (MSeqDR): A global grass-roots consortium to facilitate deposition, curation, annotation, and integrated analysis of genomic data for the mitochondrial disease clinical and research communities

503. Circulating microRNAs as Potential Biomarkers of Differential Susceptibility to Traumatic Stress

Preimplantation genetic diagnosis for mitochondrial DNA disorders: ethical guidance for clinical practice

Circulating microRNAs as Potential Biomarkers of Differential Susceptibility to Traumatic Stress

TGF-β stimulation in human and murine cells reveals commonly affected biological processes and pathways at transcription level

AAV2-mediated delivery of nucleic acid or protein to the mitochondrial matrix as a treatment for Lebers Hereditary Optic Neuropathy

279. Efficient and Safe Lentiviral Vector-Mediated Hematopoietic Stem Cell Gene Therapy in MNGIE Mice

Germline Mitochondrial DNA Mutations As a Novel First Event in Childhood Myelodysplastic Syndrome

TGF-[beta] stimulation in human and murine cells reveals commonly affected biological processes and pathways at transcription level

Definition of subchromosomal intervals around the myotonic dystrophy gene region at 19q

Molecular Genetics of X-Linked Hearing Impairment

Tight linkage between myotonic dystrophy and apolipoprotein E genes revealed with allele-specific oligonucleotides

Selective Oxidation of Methane by the Bis(μ-oxo)dicopper Core Stabilized on ZSM-5 and Mordenite Zeolites

Oxygen Precursor to the Reactive Intermediate in Methanol Synthesis by Cu-ZSM-5

Healthcare needs, expectations, utilization, and experienced treatment effects in patients with hereditary spastic paraplegia: a web-based survey in the Netherlands

Cu-ZSM-5: A biomimetic inorganic model for methane oxidation

Epidemiology of knee osteoarthritis in general practice: a registry-based study

Transition-Metal Ions in Zeolites: Coordination and Activation of Oxygen

Mapping the aerodynamic roughness of the Greenland Ice Sheet surface using ICESat-2: evaluation over the K-transect

Cardiologists' perceptions on multidisciplinary collaboration in heart failure care - a qualitative study

Correlated X‑ray Ptychography and Fluorescence Nano-Tomography on the Fragmentation Behavior of an Individual Catalyst Particle during the Early Stages of Olefin Polymerization

General practitioners' perceptions about their role in current and future heart failure care: an exploratory qualitative study

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