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Items: 3

Select item 81189741.

Hypomyelination and Congenital Cataract: Neuroimaging Features of a Novel Inherited White Matter Disorder

A. Rossi, R. Biancheri, F. Zara, C. Bruno, G. Uziel, M.S. van der Knaap, C. Minetti, P. Tortori-Donati

AJNR Am J Neuroradiol. 2008 Feb; 29(2): 301–305. doi: 10.3174/ajnr.A0792

PMCID:: PMC8118974

Abstract Article PDF–306K

Select item 46896162.

The leukodystrophy protein FAM126A/Hyccin regulates PI4P synthesis at the plasma membrane

Jeremy M. Baskin, Xudong Wu, Romain Christiano, Michael S. Oh, Curtis M. Schauder, Elisabetta Gazzerro, Mirko Messa, Simona Baldassari, Stefania Assereto, Roberta Biancheri, Federico Zara, Carlo Minetti, Andrea Raimondi, Mikael Simons, Tobias C. Walther, Karin M. Reinisch, Pietro De Camilli

Nat Cell Biol. Author manuscript; available in PMC 2016 May 18.

Published in final edited form as: Nat Cell Biol. 2016 Jan; 18(1): 132–138. Published online 2015 Nov 16. doi: 10.1038/ncb3271

PMCID:: PMC4689616

Article PDF–1.7M

Select item 45447533.

Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W. Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector, Karl Voelkerding, Heidi L. Rehm

Genet Med. Author manuscript; available in PMC 2015 Nov 1.

Published in final edited form as: Genet Med. 2015 May; 17(5): 405–424. Published online 2015 Mar 5. doi: 10.1038/gim.2015.30