about
Making a definitive diagnosis: successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel diseaseCharacterization of a New DGKE Intronic Mutation in Genetically Unsolved Cases of Familial Atypical Hemolytic Uremic SyndromeNext-generation sequencing facilitates the diagnosis in a child with twinkle mutations causing cholestatic liver failure.SIGIRR genetic variants in premature infants with necrotizing enterocolitis.Antioxidant response genes sequence variants and BPD susceptibility in VLBW infants.X-Linked Cobalamin Disorder (HCFC1) Mimicking Nonketotic Hyperglycinemia With Increased Both Cerebrospinal Fluid Glycine and Methylmalonic Acid.Reduced mitochondrial DNA content and heterozygous nuclear gene mutations in patients with acute liver failure.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 syndromeNecrotizing Enterocolitis Is Not Associated With Sequence Variants in Antioxidant Response Genes in Premature InfantsEfficient Precision Genome Editing in iPSCs via Genetic Co-targeting with Selection.Diversion of aspartate in ASS1-deficient tumours fosters de novo pyrimidine synthesis.Recessive deoxyguanosine kinase deficiency causes juvenile onset mitochondrial myopathy.A novel FOXF1 mutation associated with alveolar capillary dysplasia and coexisting colobomas and hemihyperplasia.Genomics in clinical practice: lessons from the front lines
P50
Q28301461-0F829EAE-1F37-4581-8A2A-2363601FD992Q33421800-9CBAF546-C176-49B7-8631-BDFF18C109FEQ34630328-63FFA95B-3C4B-4845-A392-11747A679C5FQ35650476-6187DEC8-4138-4E5B-84C5-2C999568EA21Q35910561-E83152BE-E5C9-4CFA-AAA9-6F7E4F0EBAFFQ36330499-1636EC70-0E91-463E-B925-DA823DAB849CQ37138915-8EDAEE54-A73E-461F-BFE0-4913B73185ECQ37304656-C3A1AB1B-A399-408D-A90F-BA52575870CCQ37322058-57A7996D-E22B-4865-B9F1-A905412A743CQ37707509-C01BC9B7-B9A8-438D-B582-F0BB199E259BQ38820081-E6EDF5B0-63D1-4303-ABFC-0E1AA49A6FA2Q39343451-1F1A1975-4683-4EF1-8E22-33ED546B47F7Q51663826-2E6D6FE4-84A8-4114-8DE3-EFBCEBB08E45Q87110236-DD158BA6-5851-4957-9F93-19F2A555DF45
P50
description
researcher ORCID ID = 0000-0002-2693-5598
@en
wetenschapper
@nl
name
Daniel Helbling
@ast
Daniel Helbling
@en
Daniel Helbling
@es
Daniel Helbling
@nl
type
label
Daniel Helbling
@ast
Daniel Helbling
@en
Daniel Helbling
@es
Daniel Helbling
@nl
prefLabel
Daniel Helbling
@ast
Daniel Helbling
@en
Daniel Helbling
@es
Daniel Helbling
@nl
P106
P1153
54928152000
P21
P31
P496
0000-0002-2693-5598