Search filters

List of works by Daniel Helbling

A novel FOXF1 mutation associated with alveolar capillary dysplasia and coexisting colobomas and hemihyperplasia.

scientific article published in February 2015

Antioxidant response genes sequence variants and BPD susceptibility in VLBW infants.

scientific article published on 17 December 2014

Characterization of a New DGKE Intronic Mutation in Genetically Unsolved Cases of Familial Atypical Hemolytic Uremic Syndrome

scientific article

Diversion of aspartate in ASS1-deficient tumours fosters de novo pyrimidine synthesis

scientific article published on 11 November 2015

Efficient Precision Genome Editing in iPSCs via Genetic Co-targeting with Selection.

scientific article published on 22 February 2017

Genomics in clinical practice: lessons from the front lines

scientific article published on 01 July 2013

Making a definitive diagnosis: successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease

scientific article

Necrotizing Enterocolitis Is Not Associated With Sequence Variants in Antioxidant Response Genes in Premature Infants

scientific article published on 29 September 2015

Next-generation sequencing facilitates the diagnosis in a child with twinkle mutations causing cholestatic liver failure.

scientific article

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 syndrome

scientific article published on 07 January 2016

Recessive deoxyguanosine kinase deficiency causes juvenile onset mitochondrial myopathy.

scientific article published on 26 April 2012

Reduced mitochondrial DNA content and heterozygous nuclear gene mutations in patients with acute liver failure.

scientific article published on October 2013

SIGIRR genetic variants in premature infants with necrotizing enterocolitis

scientific article published on 11 May 2015

X-Linked Cobalamin Disorder (HCFC1) Mimicking Nonketotic Hyperglycinemia With Increased Both Cerebrospinal Fluid Glycine and Methylmalonic Acid

scientific article

Paulina is supported by:

About Paulina

Help