Baiba Lace

Riga, RIX, Latvia

Last Updated: 09/26/2026

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Found 56 publications

Mild form of aromatic L-amino acid decarboxylase deficiency.

Mild form of aromatic L-amino acid decarboxylase deficiency.

Journal: BMJ case reports

Published: August 26, 2026

Identifying barriers and policy priorities for rare disease research in underrepresented European countries.

Identifying barriers and policy priorities for rare disease research in underrepresented European countries.

Journal: European journal of public health

Published: June 15, 2026

Priority European strategies for sustainable access to high-quality genetic counselling in cancer: A Delphi study.

Priority European strategies for sustainable access to high-quality genetic counselling in cancer: A Delphi study.

Journal: European journal of human genetics : EJHG

Published: October 14, 2025

Generation of induced pluripotent stem cell lines from three LGMD R1 patients carrying CAPN3 hypomorphic intronic variant c.1746-20C > G.

Generation of induced pluripotent stem cell lines from three LGMD R1 patients carrying CAPN3 hypomorphic intronic variant c.1746-20C > G.

Journal: Stem cell research

Published: June 30, 2025

Case Report: Severe hypertriglyceridaemia and multivessel coronary artery disease - management and plaque characteristics.

Case Report: Severe hypertriglyceridaemia and multivessel coronary artery disease - management and plaque characteristics.

Journal: Frontiers in cardiovascular medicine

Published: May 04, 2025

Genetic Analysis of CYP1B1 and Other Anterior Segment Dysgenesis-Associated Genes in Latvian Cohort of Primary Congenital Glaucoma.

Genetic Analysis of CYP1B1 and Other Anterior Segment Dysgenesis-Associated Genes in Latvian Cohort of Primary Congenital Glaucoma.

Journal: Biomedicines

Published: April 03, 2025

Describing the First Canadian Cohort of Oculogastrointestinal Neurodevelopmental Syndrome Caused by CAPN15 Pathogenic Variants.

Describing the First Canadian Cohort of Oculogastrointestinal Neurodevelopmental Syndrome Caused by CAPN15 Pathogenic Variants.

Journal: American journal of medical genetics. Part A

Published: February 28, 2025

Characterization of severe COL6-related dystrophy due to the recurrent variant COL6A1 c.930+189C>T.

Characterization of severe COL6-related dystrophy due to the recurrent variant COL6A1 c.930+189C>T.

Journal: Brain : a journal of neurology

Published: October 03, 2024

Genetic counselling legislation and practice in cancer in EU Member States.

Genetic counselling legislation and practice in cancer in EU Member States.

Journal: European journal of public health

Published: June 21, 2024

The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy.

The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy.

Journal: medRxiv : the preprint server for health sciences

Published: April 08, 2024

The phenotypic spectrum of PTCD3 deficiency.

The phenotypic spectrum of PTCD3 deficiency.

Journal: JIMD reports

Published: February 26, 2024

Unraveling the Pathogenetic Mechanisms Underlying the Association between Specific Mitochondrial DNA Haplogroups and Parkinson's Disease.

Unraveling the Pathogenetic Mechanisms Underlying the Association between Specific Mitochondrial DNA Haplogroups and Parkinson's Disease.

Journal: Cells

Published: January 22, 2024

Showing 1-12 of 56

Last Updated: 09/26/2026