Sofia Thunstrom

Goeteborg, O, Sweden

Last Updated: 09/26/2026

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Found 20 publications

A Nationwide Study of Pyruvate Dehydrogenase Complex Deficiency in Sweden: Epidemiology, Genotype-Phenotype Correlations, and Survival.

A Nationwide Study of Pyruvate Dehydrogenase Complex Deficiency in Sweden: Epidemiology, Genotype-Phenotype Correlations, and Survival.

Journal: Neurology

Published: April 14, 2026

Aortic Dissection in Women With Turner Syndrome: Impact of Revised Guidelines on Incidence-A Nationwide Register-Based Cohort Study, 2001-2023.

Aortic Dissection in Women With Turner Syndrome: Impact of Revised Guidelines on Incidence-A Nationwide Register-Based Cohort Study, 2001-2023.

Journal: Circulation

Published: February 16, 2026

MMP13-related Metaphyseal anadysplasia type 1 presenting with rickets-like manifestations in a family.

MMP13-related Metaphyseal anadysplasia type 1 presenting with rickets-like manifestations in a family.

Journal: European journal of medical genetics

Published: February 03, 2026

Implementing electronic informed consent in rare disease genomics.

Implementing electronic informed consent in rare disease genomics.

Journal: Scientific reports

Published: October 20, 2025

Molecular genotype-phenotype correlation in ACTB- and ACTG1-related non-muscle actinopathies.

Molecular genotype-phenotype correlation in ACTB- and ACTG1-related non-muscle actinopathies.

Journal: American journal of human genetics

Published: July 17, 2025

Structural Variants in COL1A1 and COL1A2 in Osteogenesis Imperfecta.

Structural Variants in COL1A1 and COL1A2 in Osteogenesis Imperfecta.

Journal: American journal of medical genetics. Part A

Published: June 12, 2024

A national long-read sequencing study on chromosomal rearrangements uncovers hidden complexities.

A national long-read sequencing study on chromosomal rearrangements uncovers hidden complexities.

Journal: Genome research

Published: April 25, 2024

All-cause mortality and death by aortic dissection in women with Turner syndrome: A national clinical cohort study.

All-cause mortality and death by aortic dissection in women with Turner syndrome: A national clinical cohort study.

Journal: American heart journal

Published: April 03, 2024

Aortic growth rates in a Swedish cohort of women with Turner syndrome.

Aortic growth rates in a Swedish cohort of women with Turner syndrome.

Journal: International journal of cardiology. Congenital heart disease

Published: August 03, 2023

Psychiatric disorders and comorbidity in women with Turner Syndrome: a retrospective national cohort study.

Psychiatric disorders and comorbidity in women with Turner Syndrome: a retrospective national cohort study.

Journal: Translational psychiatry

Published: July 15, 2023

Autoimmune Disease in Turner Syndrome in Sweden: An up to 25 Years' Controlled Follow-up Study.

Autoimmune Disease in Turner Syndrome in Sweden: An up to 25 Years' Controlled Follow-up Study.

Journal: The Journal of clinical endocrinology and metabolism

Published: July 13, 2023

Reply to "Comment on aortic size predicts aortic dissection in Turner syndrome - A 25-year prospective cohort study" by Salman Khazaei.

Reply to "Comment on aortic size predicts aortic dissection in Turner syndrome - A 25-year prospective cohort study" by Salman Khazaei.

Journal: International journal of cardiology

Published: February 28, 2023

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Last Updated: 09/26/2026