Novel PNKP mutation in siblings with ataxia-oculomotor apraxia type 4

N Schiess, DS Zee, KA Siddiqui, M Szolics… - Journal of …, 2017 - Taylor & Francis
The phenotypic and genetic spectrum of ataxia with oculomotor apraxia (AOA) disorders is
rapidly evolving and new technologies such as genetic mapping using whole exome …
被引用次数：17 相关文章

Novel PNKP mutation in siblings with ataxia-oculomotor apraxia type 4

N Schiess, DS Zee, KA Siddiqui… - Journal of …, 2017 - nchr.elsevierpure.com
The phenotypic and genetic spectrum of ataxia with oculomotor apraxia (AOA) disorders is
rapidly evolving and new technologies such as genetic mapping using whole exome …
[PDF] researchgate.net

[PDF][PDF] Novel PNKP mutation in siblings with ataxia-oculomotor apraxia type 4

N Schiess, DS Zee, KA Siddiqui, M Szolics… - JOURNAL OF …, 2017 - researchgate.net
The phenotypic and genetic spectrum of ataxia with oculomotor apraxia (AOA) disorders is
rapidly evolving and new technologies such as genetic mapping using whole exome …

Novel PNKP mutation in siblings with ataxia-oculomotor apraxia type 4.

N Schiess, DS Zee, KA Siddiqui, M Szolics… - Journal of …, 2017 - europepmc.org
The phenotypic and genetic spectrum of ataxia with oculomotor apraxia (AOA) disorders is
rapidly evolving and new technologies such as genetic mapping using whole exome …

Novel PNKP mutation in siblings with ataxia-oculomotor apraxia type 4

N Schiess, DS Zee, KA Siddiqui… - Journal of …, 2017 - pubmed.ncbi.nlm.nih.gov
The phenotypic and genetic spectrum of ataxia with oculomotor apraxia (AOA) disorders is
rapidly evolving and new technologies such as genetic mapping using whole exome …

Novel PNKP mutation in siblings with ataxia-oculomotor apraxia type 4

N Schiess, DS Zee, KA Siddiqui… - Journal of …, 2017 - pure.johnshopkins.edu
The phenotypic and genetic spectrum of ataxia with oculomotor apraxia (AOA) disorders is
rapidly evolving and new technologies such as genetic mapping using whole exome …