Detailansicht

Wissensnetz

Person

Marta Owczarek-Lipska

Name	Marta Owczarek-Lipska
Ort	Deutschland
Geschlecht	weiblich
Akademischer Grad bzw. Titel	Dr.
Beziehung	Carl von Ossietzky Universität Oldenburg
Weitere Angaben	Leiterin der Nachwuchsgruppe Genetik der kindlichen Gehirnfehlbildung, Department für Humanmedizin, Universität Oldenburg
Quelle	Homepage: https://uol.de/genetik-gehirnfehlbildungen (Stand: 07.11.2019)
Datensatztyp	Person
GND-Nummer	1206268239
Datensatz-ID	1206268239
Beteiligt an alle anzeigen Novel synonymous and missense variants in FGFR1 causing Hartsfield syndrome Skewed X-inactivation is associated with retinal dystrophy in female carriers of RPGR mutations High-throughput sequencing to identify mutations associated with retinal dystrophies A Novel de novo Frameshift Mutation in the BCL11A Gene in a Patient with Intellectual Disability Syndrome and Epilepsy Identification of Brain-Specific Treatment Effects in NPC1 Disease by Focusing on Cellular and Molecular Changes of Sphingosine-1-Phosphate Metabolism Translational read-through therapy of RPGR nonsense mutations Novel mutations in the GJC2 gene associated with Pelizaeus–Merzbacher-like disease Combining engineered U1 snRNA and antisense oligonucleotides to improve the treatment of a BBS1 splice site mutation Novel mutations in the GJC2 gene associated with Pelizaeus-Merzbacher-like disease. Novel synonymous and missense variants in FGFR1 causing Hartsfield syndrome. A Novel C-Terminal Mutation in Gsdma3 (C+/H−) Leads to Alopecia and Corneal Inflammatory Response in Mice The mutation p.E113K in the Schiff base counterion of rhodopsin is associated with two distinct retinal phenotypes within the same family

Hinweis

Die Betaversion beinhaltet noch nicht alle Funktionen und Informationen des Katalogs des DNB-Portals. Falls Sie Informationen vermissen oder ein Medium bestellen wollen, besuchen Sie bitte die entsprechende Seite im Katalog des DNB-Portals über folgenden Link:

Katalog der Deutschen Nationalbibliothek

Marta Owczarek-Lipska

Novel synonymous and missense variants in FGFR1 causing Hartsfield syndrome

Skewed X-inactivation is associated with retinal dystrophy in female carriers of RPGR mutations

High-throughput sequencing to identify mutations associated with retinal dystrophies

A Novel de novo Frameshift Mutation in the BCL11A Gene in a Patient with Intellectual Disability Syndrome and Epilepsy

Identification of Brain-Specific Treatment Effects in NPC1 Disease by Focusing on Cellular and Molecular Changes of Sphingosine-1-Phosphate Metabolism

Translational read-through therapy of RPGR nonsense mutations

Novel mutations in the GJC2 gene associated with Pelizaeus–Merzbacher-like disease

Combining engineered U1 snRNA and antisense oligonucleotides to improve the treatment of a BBS1 splice site mutation

Novel mutations in the GJC2 gene associated with Pelizaeus-Merzbacher-like disease.

Novel synonymous and missense variants in FGFR1 causing Hartsfield syndrome.

A Novel C-Terminal Mutation in Gsdma3 (C+/H−) Leads to Alopecia and Corneal Inflammatory Response in Mice

The mutation p.E113K in the Schiff base counterion of rhodopsin is associated with two distinct retinal phenotypes within the same family