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Author/Creator Blakely, Emma

1. Compound heterozygous RMND1 gene variants associated with chronic kidney disease, dilated cardiomyopathy and neurological involvement: a case report. (December 2016)

Authors:
Gupta, Asheeta; Colmenero, Isabel; Ragge, Nicola; Blakely, Emma; He, Langping; McFarland, Robert; Taylor, Robert; Vogt, Julie; Milford, David
Journal:
BMC research notes
Issue:
Volume 9:Number 1(2016)
Page Start:
1
Record Type:
Journal Article
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3. SCYL1 variants cause a syndrome with low γ-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration (CALFAN). (October 2018)

Authors:
Lenz, Dominic; McClean, Patricia; Kansu, Aydan; Bonnen, Penelope; Ranucci, Giusy; Thiel, Christian; Straub, Beate; Harting, Inga; Alhaddad, Bader; Dimitrov, Bianca; Kotzaeridou, Urania; Wenning, Daniel; Iorio, Raffaele; Himes, Ryan; Kuloğlu, Zarife; Blakely, Emma; Taylor, Robert; Meitinger, Thoma...
Journal:
Genetics in medicine
Issue:
Volume 20:Number 10(2018)
Page Start:
1255
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗