Anna Lindstrand

Stockholm, AB, Sweden

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 147 publications

Genomic Medicine Sweden: Advancing precision medicine at the national level.

Genomic Medicine Sweden: Advancing precision medicine at the national level.

Journal: Journal of internal medicine

Published: July 07, 2026

Abstracts of the 36th World Congress on Ultrasound in Obstetrics and Gynecology, 4-7 September 2026, London, UK.

Abstracts of the 36th World Congress on Ultrasound in Obstetrics and Gynecology, 4-7 September 2026, London, UK.

Journal: Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology

Published: July 06, 2026

Clinical genome sequencing in neurodegenerative diseases-outcome in the first 500 patients.

Clinical genome sequencing in neurodegenerative diseases-outcome in the first 500 patients.

Journal: Human molecular genetics

Published: April 28, 2026

Phenotypic and transcriptomic characterization of biallelic RNU2-2 developmental and epileptic encephalopathy.

Phenotypic and transcriptomic characterization of biallelic RNU2-2 developmental and epileptic encephalopathy.

Journal: Epilepsia

Published: February 25, 2026

Rare variants in TTC7A, ROCK2 and LIMK2 suggest a role for the ROCK-signaling pathway in isolated intestinal malrotation.

Rare variants in TTC7A, ROCK2 and LIMK2 suggest a role for the ROCK-signaling pathway in isolated intestinal malrotation.

Journal: Pediatric surgery international

Published: February 05, 2026

First Reported Use of Recombinant Parathyroid Hormone in Kenny-Caffey Syndrome Type 2: A Case Report and Literature Review.

First Reported Use of Recombinant Parathyroid Hormone in Kenny-Caffey Syndrome Type 2: A Case Report and Literature Review.

Journal: Diseases (Basel, Switzerland)

Published: January 09, 2026

Characterization of CTNND2-related neurodevelopmental disease, phenotype-genotype spectrum and WNT dynamics in early neurogenesis.

Characterization of CTNND2-related neurodevelopmental disease, phenotype-genotype spectrum and WNT dynamics in early neurogenesis.

Journal: Research square

Published: January 08, 2026

Moving beyond monogenic disorders in clinical healthcare.

Moving beyond monogenic disorders in clinical healthcare.

Journal: Nature biotechnology

Published: January 06, 2026

Copy Number Gains at 17p11.2 Sparing RAI1: A Shared Phenotype Pattern.

Copy Number Gains at 17p11.2 Sparing RAI1: A Shared Phenotype Pattern.

Journal: American journal of medical genetics. Part A

Published: December 11, 2025

Cancer Risk in Marfan Syndrome: A Swedish Population-Based Cohort Study.

Cancer Risk in Marfan Syndrome: A Swedish Population-Based Cohort Study.

Journal: International journal of cancer

Published: December 07, 2025

Genome Sequencing in 19 Families With Bladder Exstrophy and Epispadias Complex Indicates Involvement of the ADGR -Gene Family.

Genome Sequencing in 19 Families With Bladder Exstrophy and Epispadias Complex Indicates Involvement of the ADGR -Gene Family.

Journal: American journal of medical genetics. Part A

Published: November 11, 2025

Implementing electronic informed consent in rare disease genomics.

Implementing electronic informed consent in rare disease genomics.

Journal: Scientific reports

Published: October 20, 2025

Showing 1-12 of 147

Last Updated: 09/26/2026