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Items: 3

1.

Probable Diagnosis of a Patient with Niemann-Pick Disease Type C: Managing Pitfalls of Exome Sequencing.

Zeiger WA, Jamal NI, Scheuner MT, Pittman P, Raymond KM, Morra M, Mishra SK.

JIMD Rep. 2018;41:47-51. doi: 10.1007/8904_2018_90. Epub 2018 Feb 17.

2.

Tactile Defensiveness and Impaired Adaptation of Neuronal Activity in the Fmr1 Knock-Out Mouse Model of Autism.

He CX, Cantu DA, Mantri SS, Zeiger WA, Goel A, Portera-Cailliau C.

J Neurosci. 2017 Jul 5;37(27):6475-6487. doi: 10.1523/JNEUROSCI.0651-17.2017. Epub 2017 Jun 12.

3.

Acute Infantile Encephalopathy as Presentation of Succinic Semialdehyde Dehydrogenase Deficiency.

Zeiger WA, Sun LR, Bosemani T, Pearl PL, Stafstrom CE.

Pediatr Neurol. 2016 May;58:113-5. doi: 10.1016/j.pediatrneurol.2015.10.009. Epub 2015 Nov 14.

PMID:
27268762

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