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Author/Creator Jackson, Christopher B.

1. Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement. (13th March 2015)

Authors:
Haack, Tobias B.; Jackson, Christopher B.; Murayama, Kei; Kremer, Laura S.; Schaller, André; Kotzaeridou, Urania; de Vries, Maaike C.; Schottmann, Gudrun; Santra, Saikat; Büchner, Boriana; Wieland, Thomas; Graf, Elisabeth; Freisinger, Peter; Eggimann, Sandra; Ohtake, Akira; Okazaki, Yasushi; Kohd...
Journal:
Annals of clinical and translational neurology
Issue:
Volume 2:Number 5(2015:May)
Page Start:
492
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

2. Novel synonymous and missense variants in FGFR1 causing Hartsfield syndrome. Issue 12 (11th September 2019)

Authors:
Courage, Carolina; Jackson, Christopher B.; Owczarek‐Lipska, Marta; Jamsheer, Aleksander; Sowińska‐Seidler, Anna; Piotrowicz, Małgorzata; Jakubowski, Lucjusz; Dallèves, Fanny; Riesch, Erik; Neidhardt, John; Lemke, Johannes R.
Journal:
American journal of medical genetics
Issue:
Volume 179:Issue 12(2019)
Page Start:
2447
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

3. SDHA mutation with dominant transmission results in complex II deficiency with ocular, cardiac, and neurologic involvement. Issue 1 (28th September 2016)

Authors:
Courage, Carolina; Jackson, Christopher B.; Hahn, Dagmar; Euro, Liliya; Nuoffer, Jean‐Marc; Gallati, Sabina; Schaller, André
Journal:
American journal of medical genetics
Issue:
Volume 173:Issue 1(2017)
Page Start:
225
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗