Exome < Exome (genetics) < Exon

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List of bibliographic references indexed by Exome (genetics)

Number of relevant bibliographic references: 7.

Ident.	Authors (with country if any)	Title
000085 (2015)	Michael Zech [Allemagne] ; Florian Castrop [Allemagne] ; Bernhard Haslinger [Allemagne] ; Juliane Winkelmann [Allemagne]	Reply to letter: Novel compound heterozygous mutations in PRKRA cause pure dystonia.
000140 (2015)	Patricia De Carvalho Aguiar [Brésil] ; Vanderci Borges [Brésil] ; Henrique Ballalai Ferraz [Brésil] ; Laurie Jean Ozelius [États-Unis]	Novel compound heterozygous mutations in PRKRA cause pure dystonia.
000357 (2014)	Alexander Lehn [Royaume-Uni]	Will next-generation sequencing also take us to the next level of understanding disease mechanisms?
000611 (2014)	Michael Zech [Allemagne] ; Florian Castrop ; Barbara Schormair ; Angela Jochim ; Thomas Wieland ; Nadine Gross ; Peter Lichtner ; Annette Peters ; Christian Gieger ; Thomas Meitinger ; Tim M. Strom ; Konrad Oexle ; Bernhard Haslinger ; Juliane Winkelmann	DYT16 revisited: exome sequencing identifies PRKRA mutations in a European dystonia family.
000A95 (2013)	Darius Ebrahimi-Fakhari [Allemagne]	Autophagy and neurodegeneration - genetic findings in SENDA syndrome, a subtype of neurodegeneration with brain iron accumulation, provide a novel link.
000C42 (2012)	Andrew B. Singleton	Rapid genetic diagnosis in single-gene movement disorders
000D76 (2012)	Ruth H. Walker [États-Unis] ; Vincent P. Schulz ; Irina R. Tikhonova ; Milind C. Mahajan ; Shrikant Mane ; Maritza Arroyo Muniz ; Patrick G. Gallagher	Genetic diagnosis of neuroacanthocytosis disorders using exome sequencing.

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