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John Neidhardt

Name	John Neidhardt
Ort	Deutschland
Geschlecht	männlich
Akademischer Grad bzw. Titel	Prof. Dr.
Beziehung	Universität Zürich Carl von Ossietzky Universität Oldenburg (2014-)
Weitere Angaben	Leiter der Abteilung Humangenetik am Department für Humanmedizin, Universität Oldenburg
Quelle	Homepage: https://uol.de/humangenetik/team (Stand: 07.11.2019)
Datensatztyp	Person
GND-Nummer	1204516464
Datensatz-ID	1204516464
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 A therapy with miglustat, 2-hydroxypropyl-ß-cyclodextrin and allopregnanolone restores splenic cholesterol homeostasis in Niemann-pick disease type C1 A therapy with miglustat, 2-hydroxypropyl-ß-cyclodextrin and allopregnanolone restores splenic cholesterol homeostasis in Niemann-pick disease type C1 Combining engineered U1 snRNA and antisense oligonucleotides to improve the treatment of a BBS1 splice site mutation Nanomolar responsiveness of an anaerobic degradation specialist to alkylphenol pollutants. Novel mutations in the GJC2 gene associated with Pelizaeus-Merzbacher-like disease. Novel synonymous and missense variants in FGFR1 causing Hartsfield syndrome. Toward genome editing in X-linked RP: development of a mouse model with specific treatment relevant features. A Novel C-Terminal Mutation in Gsdma3 (C+/H−) Leads to Alopecia and Corneal Inflammatory Response in Mice A Novel Method Combining Vitreous Aspiration and Intravitreal AAV2/8 Injection Results in Retina-Wide Transduction in Adult Mice

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Katalog der Deutschen Nationalbibliothek

John Neidhardt

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

A therapy with miglustat, 2-hydroxypropyl-ß-cyclodextrin and allopregnanolone restores splenic cholesterol homeostasis in Niemann-pick disease type C1

A therapy with miglustat, 2-hydroxypropyl-ß-cyclodextrin and allopregnanolone restores splenic cholesterol homeostasis in Niemann-pick disease type C1

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

Nanomolar responsiveness of an anaerobic degradation specialist to alkylphenol pollutants.

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

Novel synonymous and missense variants in FGFR1 causing Hartsfield syndrome.

Toward genome editing in X-linked RP: development of a mouse model with specific treatment relevant features.

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

A Novel Method Combining Vitreous Aspiration and Intravitreal AAV2/8 Injection Results in Retina-Wide Transduction in Adult Mice