Izabella Baranowska Körberg

Visualization using NIPTviewer support the clinical interpretation of noninvasive prenatal testing results

Smeds, Patrik; Baranowska Körberg, Izabella; Melin, Malin; Ladenvall, Claes

Ingår i BMC Medical Genomics, 2025

• DOI för Visualization using NIPTviewer support the clinical interpretation of noninvasive prenatal testing results
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Massive parallel sequencing-based non-invasive prenatal test (NIPT) identifies aberrations on chromosome 13

Sobol, Maria; Aravidis, Christos; Hessel, Hugo; Lindqvist, Anna et al.

Ingår i European Journal of Obstetrics, Gynecology, and Reproductive Biology, s. 370-374, 2024

• DOI för Massive parallel sequencing-based non-invasive prenatal test (NIPT) identifies aberrations on chromosome 13
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A retrospective two centre study of Birt-Hogg-Dube syndrome reveals a pathogenic founder mutation in FLCN in the Swedish population

Lagerstedt-Robinson, Kristina; Baranowska Korberg, Izabella; Tsiaprazis, Stefanos; Bjorck, Erik et al.

Ingår i PLOS ONE, 2022

• DOI för A retrospective two centre study of Birt-Hogg-Dube syndrome reveals a pathogenic founder mutation in FLCN in the Swedish population
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A progressive and complex clinical course in two family members with ERF-related craniosynostosis: a case report

Baranowska Körberg, Izabella; Nowinski, Daniel; Bondeson, Marie-Louise; Melin, Malin et al.

Ingår i BMC Medical Genetics, 2020

• DOI för A progressive and complex clinical course in two family members with ERF-related craniosynostosis: a case report
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Variants within the SP110 nuclear body protein modify risk of canine degenerative myelopathy

Ivansson, Emma L.; Megquier, Kate; Kozyrev, Sergey V.; Murén, Eva et al.

Ingår i Proceedings of the National Academy of Sciences of the United States of America, 2016

• DOI för Variants within the SP110 nuclear body protein modify risk of canine degenerative myelopathy

Visualization using NIPTviewer support the clinical interpretation of noninvasive prenatal testing results

Smeds, Patrik; Baranowska Körberg, Izabella; Melin, Malin; Ladenvall, Claes

Ingår i BMC Medical Genomics, 2025

• DOI för Visualization using NIPTviewer support the clinical interpretation of noninvasive prenatal testing results
• Ladda ner fulltext (pdf) av Visualization using NIPTviewer support the clinical interpretation of noninvasive prenatal testing results

Massive parallel sequencing-based non-invasive prenatal test (NIPT) identifies aberrations on chromosome 13

Sobol, Maria; Aravidis, Christos; Hessel, Hugo; Lindqvist, Anna et al.

Ingår i European Journal of Obstetrics, Gynecology, and Reproductive Biology, s. 370-374, 2024

• DOI för Massive parallel sequencing-based non-invasive prenatal test (NIPT) identifies aberrations on chromosome 13
• Ladda ner fulltext (pdf) av Massive parallel sequencing-based non-invasive prenatal test (NIPT) identifies aberrations on chromosome 13

A retrospective two centre study of Birt-Hogg-Dube syndrome reveals a pathogenic founder mutation in FLCN in the Swedish population

Lagerstedt-Robinson, Kristina; Baranowska Korberg, Izabella; Tsiaprazis, Stefanos; Bjorck, Erik et al.

Ingår i PLOS ONE, 2022

• DOI för A retrospective two centre study of Birt-Hogg-Dube syndrome reveals a pathogenic founder mutation in FLCN in the Swedish population
• Ladda ner fulltext (pdf) av A retrospective two centre study of Birt-Hogg-Dube syndrome reveals a pathogenic founder mutation in FLCN in the Swedish population

A progressive and complex clinical course in two family members with ERF-related craniosynostosis: a case report

Baranowska Körberg, Izabella; Nowinski, Daniel; Bondeson, Marie-Louise; Melin, Malin et al.

Ingår i BMC Medical Genetics, 2020

• DOI för A progressive and complex clinical course in two family members with ERF-related craniosynostosis: a case report
• Ladda ner fulltext (pdf) av A progressive and complex clinical course in two family members with ERF-related craniosynostosis: a case report

Variants within the SP110 nuclear body protein modify risk of canine degenerative myelopathy

Ivansson, Emma L.; Megquier, Kate; Kozyrev, Sergey V.; Murén, Eva et al.

Ingår i Proceedings of the National Academy of Sciences of the United States of America, 2016

• DOI för Variants within the SP110 nuclear body protein modify risk of canine degenerative myelopathy

WNT3 involvement in human bladder exstrophy and cloaca development in zebrafish

Korberg, Izabella Baranowska; Hofmeister, Wolfgang; Markljung, Ellen; Cao, Jia et al.

Ingår i Human Molecular Genetics, s. 5069-5078, 2015

• DOI för WNT3 involvement in human bladder exstrophy and cloaca development in zebrafish

A Simple Repeat Polymorphism in the MITF-M Promoter Is a Key Regulator of White Spotting in Dogs

Baranowska Körberg, Izabella; Sundström, Elisabeth; Meadows, Jennifer R. S.; Pielberg, Gerli Rosengren et al.

Ingår i PLOS ONE, 2014

• DOI för A Simple Repeat Polymorphism in the MITF-M Promoter Is a Key Regulator of White Spotting in Dogs
• Ladda ner fulltext (pdf) av A Simple Repeat Polymorphism in the MITF-M Promoter Is a Key Regulator of White Spotting in Dogs

Sensory ataxic neuropathy in golden retriever dogs is caused by a deletion in the mitochondrial tRNA^Tyr gene

Baranowska, Izabella; Jäderlund, Karin Hultin; Nennesmo, Inger; Holmqvist, Erik et al.

Ingår i PLoS Genetics, 2009

• DOI för Sensory ataxic neuropathy in golden retriever dogs is caused by a deletion in the mitochondrial tRNA^Tyr gene

Genome-wide association analysis reveals a SOD1 mutation in canine degenerative myelopathy that resembles amyotrophic lateral sclerosis

Awano, Tomoyuki; Johnson, Gary S.; Wade, Claire M.; Katz, Martin L. et al.

Ingår i Proceedings of the National Academy of Sciences of the United States of America, s. 2794-2799, 2009

• DOI för Genome-wide association analysis reveals a SOD1 mutation in canine degenerative myelopathy that resembles amyotrophic lateral sclerosis

Efficient mapping of mendelian traits in dogs through genome-wide association

Karlsson, Elinor K.; Baranowska, Izabella; Wade, Claire M.; Salmon Hillbertz, Nicolette H. C. et al.

Ingår i Nature Genetics, s. 1321-1328, 2007

• DOI för Efficient mapping of mendelian traits in dogs through genome-wide association