about
Whole-exome sequencing supports genetic heterogeneity in childhood apraxia of speech.Quantitative evaluation of the mitochondrial DNA depletion syndromeMaking a definitive diagnosis: successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel diseaseGuidelines for investigating causality of sequence variants in human diseaseOral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study.A timely arrival for genomic medicine.Next-generation sequencing facilitates the diagnosis in a child with twinkle mutations causing cholestatic liver failure.Correction of hyperbilirubinemia in gunn rats using clinically relevant low doses of helper-dependent adenoviral vectorsAbnormal neurological features predict poor survival and should preclude liver transplantation in patients with deoxyguanosine kinase deficiency.SIGIRR genetic variants in premature infants with necrotizing enterocolitis.Antioxidant response genes sequence variants and BPD susceptibility in VLBW infants.Protocol for the "Implementation, adoption, and utility of family history in diverse care settings" study.Common data elements for clinical research in mitochondrial disease: a National Institute for Neurological Disorders and Stroke project.Successful immune tolerance induction to enzyme replacement therapy in CRIM-negative infantile Pompe disease.Reduced mitochondrial DNA content and heterozygous nuclear gene mutations in patients with acute liver failure.Exploring concordance and discordance for return of incidental findings from clinical sequencing.Potentially diagnostic electron paramagnetic resonance spectra elucidate the underlying mechanism of mitochondrial dysfunction in the deoxyguanosine kinase deficient rat model of a genetic mitochondrial DNA depletion syndromeAssuring the quality of next-generation sequencing in clinical laboratory practice.Necrotizing Enterocolitis Is Not Associated With Sequence Variants in Antioxidant Response Genes in Premature InfantsPerspectives of clinical genetics professionals toward genome sequencing and incidental findings: a survey study.Efficient Precision Genome Editing in iPSCs via Genetic Co-targeting with Selection.Whole exome and whole genome sequencing.Ethical issues in DNA sequencing in the neonate.Utility of oligonucleotide array-based comparative genomic hybridization for detection of target gene deletions.Diversion of aspartate in ASS1-deficient tumours fosters de novo pyrimidine synthesis.Choices of incidental findings of individuals undergoing genome wide sequencing, a single center's experience.Presentation and Diagnostic Evaluation of Mitochondrial Disease.Should states adopt newborn screening for early infantile Krabbe disease?Recessive deoxyguanosine kinase deficiency causes juvenile onset mitochondrial myopathy.Solid organ transplantation in primary mitochondrial disease: Proceed with caution.A personal perspective on returning secondary results of clinical genome sequencing.Rapid whole-genome sequencing identifies a novel homozygous NPC1 variant associated with Niemann-Pick type C1 disease in a 7-week-old male with cholestasis.Rapid whole-genome sequencing identifies a novel GABRA1 variant associated with West syndrome.Allogeneic hematopoietic cell transplantation for XIAP deficiency: an international survey reveals poor outcomes.Progressive myofiber loss with extensive fibro-fatty replacement in a child with mitochondrial DNA depletion syndrome and novel thymidine kinase 2 gene mutations.Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase.Long-term developmental progression in infants and young children taking sapropterin for phenylketonuria: a two-year analysis of safety and efficacy.The humanistic burden of Pompe disease: are there still unmet needs? A systematic review.Response to Metcalfe et al.Simultaneous detection of mitochondrial DNA depletion and single-exon deletion in the deoxyguanosine gene using array-based comparative genomic hybridisation.
P50
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P50
description
researcher
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wetenschapper
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հետազոտող
@hy
name
David Dimmock
@ast
David Dimmock
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David Dimmock
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David Dimmock
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type
label
David Dimmock
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David Dimmock
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David Dimmock
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David Dimmock
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prefLabel
David Dimmock
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David Dimmock
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David Dimmock
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David Dimmock
@nl
P106
P21
P31
P496
0000-0001-6690-2523