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European Journal of Human Genetics : EJHG
|
October 15, 2025
Variable response of germline activating PDGFRB variants to receptor tyrosine kinase inhibitors: implications for treatment
Ileana Cristea, Roya Mehrasa, Titas Gladkauskas, et al.
Ophthalmic Genetics
|
September 3, 2015
Biallelic Mutations in the BEST1 Gene: Additional Families with Autosomal Recessive Bestrophinopathy
Ragnhild Wivestad Jansson, Siren Berland, Cecilie Bredrup, et al.
Cornea
|
May 27, 2025
Treatment Options for Alkali Burn-Induced Corneal Neovascularization: A Comparative Analysis of Two Tyrosine Kinase Inhibitors
Titas Gladkauskas, Ida Marie Rundgren, Ileana Cristea, et al.
Investigative Ophthalmology & Visual Science
|
November 7, 2023
Corneal Vascularization Associated With a Novel PDGFRB Variant
Titas Gladkauskas, Ove Bruland, Leen Abu Safieh, et al.
American Journal of Medical Genetics. Part A
|
December 11, 2021
Clinical and molecular response to dasatinib in an adult patient with Penttinen syndrome
Helena Iznardo, Cecilie Bredrup, Sara Bernal, et al.
American Journal of Medical Genetics. Part A
|
May 12, 2021
Positive response to imatinib in PDGFRB-related Kosaki overgrowth syndrome
Cecilie F Rustad, Kristian Tveten, Trine E Prescott, et al.
Clinical Dysmorphology
|
November 12, 2025
Recurrent platelet-derived growth factor receptor beta gene mutations in Kosaki overgrowth syndrome: a molecular and clinical overview
Titas Gladkauskas, Ileana Cristea, Roya Mehrasa, et al.
Human Mutation
|
May 1, 2025
Temperature as a Key Modulator: Investigating Phosphorylation Patterns of p.Asn666 <i>PDGFRB</i> Variants and Their Role in Downstream Signaling
Titas Gladkauskas, Ileana Cristea, Roya Mehrasa, et al.
Investigative Ophthalmology & Visual Science
|
June 2, 2015
Development of congenital stromal corneal dystrophy is dependent on export and extracellular deposition of truncated decorin
Anne Elisabeth Christensen Mellgren, Ove Bruland, Anni Vedeler, et al.
Investigative Ophthalmology & Visual Science
|
May 21, 2010
Decorin accumulation contributes to the stromal opacities found in congenital stromal corneal dystrophy
Cecilie Bredrup, Espen Stang, Ove Bruland, et al.
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Showing results (11-20 of 47) with videos related to
Sort By:
Page
of 5
European Journal of Human Genetics : EJHG
|
October 15, 2025
Variable response of germline activating PDGFRB variants to receptor tyrosine kinase inhibitors: implications for treatment
Ileana Cristea, Roya Mehrasa, Titas Gladkauskas, et al.
Ophthalmic Genetics
|
September 3, 2015
Biallelic Mutations in the BEST1 Gene: Additional Families with Autosomal Recessive Bestrophinopathy
Ragnhild Wivestad Jansson, Siren Berland, Cecilie Bredrup, et al.
Cornea
|
May 27, 2025
Treatment Options for Alkali Burn-Induced Corneal Neovascularization: A Comparative Analysis of Two Tyrosine Kinase Inhibitors
Titas Gladkauskas, Ida Marie Rundgren, Ileana Cristea, et al.
Investigative Ophthalmology & Visual Science
|
November 7, 2023
Corneal Vascularization Associated With a Novel PDGFRB Variant
Titas Gladkauskas, Ove Bruland, Leen Abu Safieh, et al.
American Journal of Medical Genetics. Part A
|
December 11, 2021
Clinical and molecular response to dasatinib in an adult patient with Penttinen syndrome
Helena Iznardo, Cecilie Bredrup, Sara Bernal, et al.
American Journal of Medical Genetics. Part A
|
May 12, 2021
Positive response to imatinib in PDGFRB-related Kosaki overgrowth syndrome
Cecilie F Rustad, Kristian Tveten, Trine E Prescott, et al.
Clinical Dysmorphology
|
November 12, 2025
Recurrent platelet-derived growth factor receptor beta gene mutations in Kosaki overgrowth syndrome: a molecular and clinical overview
Titas Gladkauskas, Ileana Cristea, Roya Mehrasa, et al.
Human Mutation
|
May 1, 2025
Temperature as a Key Modulator: Investigating Phosphorylation Patterns of p.Asn666 <i>PDGFRB</i> Variants and Their Role in Downstream Signaling
Titas Gladkauskas, Ileana Cristea, Roya Mehrasa, et al.
Investigative Ophthalmology & Visual Science
|
June 2, 2015
Development of congenital stromal corneal dystrophy is dependent on export and extracellular deposition of truncated decorin
Anne Elisabeth Christensen Mellgren, Ove Bruland, Anni Vedeler, et al.
Investigative Ophthalmology & Visual Science
|
May 21, 2010
Decorin accumulation contributes to the stromal opacities found in congenital stromal corneal dystrophy
Cecilie Bredrup, Espen Stang, Ove Bruland, et al.
Page
of 5