Tuva Baroy
Oslo, 0450, Norway
Last Updated: 09/26/2026
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Found 19 publications
Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndrome.
Journal: Brain : a journal of neurology
Published: June 25, 2023
Clinical and Biochemical Characteristics of Untreated Adult Patients With Resistance to Thyroid Hormone Alpha.
Journal: Journal of the Endocrine Society
Published: February 08, 2023
A novel homozygous variant in the SPG7 gene presenting with childhood optic nerve atrophy.
Journal: American journal of ophthalmology case reports
Published: September 28, 2021
A girl with a neurodevelopmental syndrome, adducted thumbs and frequent infections caused by novel homozygous variant in DEAF1.
Journal: Clinical dysmorphology
Published: January 14, 2020
Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndrome.
Journal: Human mutation
Published: June 20, 2019
Human TGF-β1 deficiency causes severe inflammatory bowel disease and encephalopathy.
Journal: Nature genetics
Published: May 22, 2017
Clinical and molecular characteristics in three families with biallelic mutations in IGHMBP2.
Journal: Neuromuscular disorders : NMD
Published: October 23, 2015
Qualitative and quantitative analysis of FBN1 mRNA from 16 patients with Marfan Syndrome.
Journal: BMC medical genetics
Published: August 31, 2015
A novel mutation in FBXL4 in a Norwegian child with encephalomyopathic mitochondrial DNA depletion syndrome 13.
Journal: European journal of medical genetics
Published: August 14, 2015
A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform.
Journal: Human molecular genetics
Published: June 02, 2015
A recurrent deletion on chromosome 2q13 is associated with developmental delay and mild facial dysmorphisms.
Journal: Molecular cytogenetics
Published: February 26, 2015
Last Updated: 09/26/2026