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Klinische Monatsblatter Fur Augenheilkunde
|
March 24, 2025
Enzyme Replacement Therapy in CLN2-Associated Retinopathy
Claudia Priglinger, Carolina Courage, Esther M Maier
European Journal of Medical Genetics
|
June 17, 2014
15q26.1 microdeletion encompassing only CHD2 and RGMA in two adults with moderate intellectual disability, epilepsy and truncal obesity
Carolina Courage, Gunnar Houge, Sabina Gallati, et al.
Clinical Case Reports
|
February 16, 2018
Prenatal diagnosis of diaphanospondylodysostosis (DSD): a case report
Cornelia Hofstaetter, Carolina Courage, Deborah Bartholdi, et al.
American Journal of Medical Genetics. Part A
|
September 30, 2016
SDHA mutation with dominant transmission results in complex II deficiency with ocular, cardiac, and neurologic involvement
Carolina Courage, Christopher B Jackson, Dagmar Hahn, et al.
Epilepsia
|
September 29, 2012
Duplication of the sodium channel gene cluster on 2q24 in children with early onset epilepsy
Barbara Goeggel Simonetti, Claudine Rieubland, Carolina Courage, et al.
European Journal of Medical Genetics
|
October 7, 2021
The Angelman Syndrome Online Registry - A multilingual approach to support global research
Ilona Krey, Constanze Heine, Marcel Frömming, et al.
Journal of Translational Medicine
|
February 8, 2018
Immune monitoring and TCR sequencing of CD4 T cells in a long term responsive patient with metastasized pancreatic ductal carcinoma treated with individualized, neoepitope-derived multipeptide vaccines: a case report
Katja Sonntag, Hisayoshi Hashimoto, Matthias Eyrich, et al.
Neuropediatrics
|
January 8, 2025
Intravitreal Enzyme Replacement Therapy Slows Retinopathy in Late Infantile Ceroid Lipofuscinosis Type 2
Claudia S Priglinger, Carolina Courage, Amelie S Lotz-Havla, et al.
European Journal of Medical Genetics
|
September 20, 2019
A patient with pontocerebellar hypoplasia type 6: Novel RARS2 mutations, comparison to previously published patients and clinical distinction from PEHO syndrome
Viivi Nevanlinna, Svetlana Konovalova, Berten Ceulemans, et al.
American Journal of Medical Genetics. Part A
|
September 13, 2019
Novel synonymous and missense variants in FGFR1 causing Hartsfield syndrome
Carolina Courage, Christopher B Jackson, Marta Owczarek-Lipska, et al.
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Search research articles
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Showing results (1-10 of 27) with videos related to
Sort By:
Page
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Klinische Monatsblatter Fur Augenheilkunde
|
March 24, 2025
Enzyme Replacement Therapy in CLN2-Associated Retinopathy
Claudia Priglinger, Carolina Courage, Esther M Maier
European Journal of Medical Genetics
|
June 17, 2014
15q26.1 microdeletion encompassing only CHD2 and RGMA in two adults with moderate intellectual disability, epilepsy and truncal obesity
Carolina Courage, Gunnar Houge, Sabina Gallati, et al.
Clinical Case Reports
|
February 16, 2018
Prenatal diagnosis of diaphanospondylodysostosis (DSD): a case report
Cornelia Hofstaetter, Carolina Courage, Deborah Bartholdi, et al.
American Journal of Medical Genetics. Part A
|
September 30, 2016
SDHA mutation with dominant transmission results in complex II deficiency with ocular, cardiac, and neurologic involvement
Carolina Courage, Christopher B Jackson, Dagmar Hahn, et al.
Epilepsia
|
September 29, 2012
Duplication of the sodium channel gene cluster on 2q24 in children with early onset epilepsy
Barbara Goeggel Simonetti, Claudine Rieubland, Carolina Courage, et al.
European Journal of Medical Genetics
|
October 7, 2021
The Angelman Syndrome Online Registry - A multilingual approach to support global research
Ilona Krey, Constanze Heine, Marcel Frömming, et al.
Journal of Translational Medicine
|
February 8, 2018
Immune monitoring and TCR sequencing of CD4 T cells in a long term responsive patient with metastasized pancreatic ductal carcinoma treated with individualized, neoepitope-derived multipeptide vaccines: a case report
Katja Sonntag, Hisayoshi Hashimoto, Matthias Eyrich, et al.
Neuropediatrics
|
January 8, 2025
Intravitreal Enzyme Replacement Therapy Slows Retinopathy in Late Infantile Ceroid Lipofuscinosis Type 2
Claudia S Priglinger, Carolina Courage, Amelie S Lotz-Havla, et al.
European Journal of Medical Genetics
|
September 20, 2019
A patient with pontocerebellar hypoplasia type 6: Novel RARS2 mutations, comparison to previously published patients and clinical distinction from PEHO syndrome
Viivi Nevanlinna, Svetlana Konovalova, Berten Ceulemans, et al.
American Journal of Medical Genetics. Part A
|
September 13, 2019
Novel synonymous and missense variants in FGFR1 causing Hartsfield syndrome
Carolina Courage, Christopher B Jackson, Marta Owczarek-Lipska, et al.
Page
of 3