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npj Genomic Medicine, ISSN 2056-7944, 12/2019, Volume 4, Issue 1, pp. 1 - 1
An amendment to this paper has been published and can be accessed via a link at the top of the paper. 
Gene expression
Journal Article
Schizophrenia Bulletin, ISSN 0586-7614, 04/2018, Volume 44, Issue suppl_1, pp. S339 - S339
Abstract Background Individuals with schizophrenia fail to appropriately use negative feedback to guide learning. These learning deficits are thought to arise... 
Abstracts
Journal Article
Journal Article
Narrative Inquiry in Bioethics, ISSN 2157-1732, 07/2016, Volume 6, Issue 2, p. 109
  Conceivably, in an ideal world, all patients with a life-limiting illness would receive optimal hospice and palliative care so that no one would ever wish to... 
Medicine | Ethics | Physicians | Hospice care | Palliative care | Patients | Quality of life
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 2015, Volume 24, Issue 7, pp. 2000 - 2010
We report siblings of consanguineous parents with an infantile-onset neurodegenerative disorder manifesting a predominant sensorimotor axonal neuropathy, optic... 
EXOCYTOSIS | NEUROTRANSMITTER RELEASE | BIOCHEMISTRY & MOLECULAR BIOLOGY | TOMOSYN | DISEASE | COMPLEXES | GENETICS & HEREDITY | FRAMEWORK | GENETIC-VARIANTS | INBREEDING COEFFICIENT | PROTEINS | MULTIPLE SEQUENCE ALIGNMENT | Carrier Proteins - genetics | Homozygote | Humans | Female | Infant | Infant, Newborn, Diseases - genetics | Male | Neurodegenerative Diseases - genetics | Mutation | Infant, Newborn
Journal Article
npj Genomic Medicine, ISSN 2056-7944, 12/2018, Volume 3, Issue 1, pp. 33 - 9
Cerebral palsy (CP) is the most frequent movement disorder of childhood affecting 1 in 500 live births in developed countries. We previously identified likely... 
INTELLECTUAL DISABILITY | SNP | GENETICS & HEREDITY | DEFICIENCY CAUSES | DELETION | Gene expression | Cerebral palsy | Malalties | Aspectes genètics | Cervell
Journal Article
The Canadian Geographer / Le Géographe canadien, ISSN 0008-3658, 09/2017, Volume 61, Issue 3, pp. 346 - 359
Journal Article
Narrative Inquiry in Bioethics, ISSN 2157-1732, 2016, Volume 6, Issue 2, pp. 109 - 113
Conceivably, in an ideal world, all patients with a life–limiting illness would receive optimal hospice and palliative care so that no one would ever wish to... 
Autonomy (Psychology) | Starvation | Right to die | Dehydration (Physiology) | Right to Die | Euthanasia, Active, Voluntary | Personal Autonomy
Journal Article
Journal of Orthopaedic Trauma, ISSN 0890-5339, 08/2018, Volume 32, Issue 8, pp. e315 - e319
BACKGROUND:Using fluoroptic thermography, temperature was measured during pin site drilling of intact cortical human cadaver bone with a combination of 1-step... 
pin site drilling | bone temperature | CORTICAL BONE | HEAT | SPORT SCIENCES | INSERTION | fluoroptic thermography | thermal necrosis | osteonecrosis | PARAMETERS | IMPLANTS | ORTHOPEDICS | Thermal properties | Temperature measurements | Usage | Orthopedic surgery | Drilling and boring | Physiological aspects | Bones | Thermography (Copying process) | Methods | Thermography
Journal Article
The Journal of Allergy and Clinical Immunology, ISSN 0091-6749, 02/2018, Volume 141, Issue 2, pp. AB129 - AB129
The Atopic Dermatitis Research Network performed a cross-sectional AD study to better characterize subjects with (ADSA+) and without (ADSA-) skin SA-culture... 
Adults | Biodiversity | Atopic dermatitis | Dermatitis | Relative abundance | Biological diversity
Journal Article
American Journal of Respiratory and Critical Care Medicine, ISSN 1073-449X, 01/2015, Volume 191, p. 1
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 10/2012, Volume 91, Issue 4, p. 694
  The discovery of mutations causing human disease has so far been biased toward protein-coding regions. Having excluded all annotated coding regions, we... 
Proteins | Brain | Chromatin | Stem cells | Mutation | Binding sites
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 08/2012, Volume 91, Issue 2, p. 252
We previously reported on nonrecurrent overlapping duplications at Xp11.22 in individuals with nonsyndromic intellectual disability (ID) harboring HSD17B10,... 
Genotype & phenotype | Mental disorders | Genetic recombination | Ribonucleic acid--RNA | Polymorphism
Journal Article
Pediatric Neurosurgery, ISSN 1016-2291, 11/2015, Volume 50, Issue 6, pp. I - VI
Journal Article
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