PMC Links for Books (Select 1491390) - PMC

Select item 74972891.

The Human Gene Mutation Database (HGMD^®): optimizing its use in a clinical diagnostic or research setting

Peter D. Stenson, Matthew Mort, Edward V. Ball, Molly Chapman, Katy Evans, Luisa Azevedo, Matthew Hayden, Sally Heywood, David S. Millar, Andrew D. Phillips, David N. Cooper

Hum Genet. 2020; 139(10): 1197–1207. Published online 2020 Jun 28. doi: 10.1007/s00439-020-02199-3

PMCID:: PMC7497289

Abstract Article PDF–2.5M

Select item 61718122.

Guaiacol as a drug candidate for treating adult polyglucosan body disease

Or Kakhlon, Igor Ferreira, Leonardo J. Solmesky, Netaly Khazanov, Alexander Lossos, Rafael Alvarez, Deniz Yetil, Sergey Pampou, Miguel Weil, Hanoch Senderowitz, Pablo Escriba, Wyatt W. Yue, H. Orhan Akman

JCI Insight. 2018 Sep 6; 3(17): e99694. Published online 2018 Sep 6. doi: 10.1172/jci.insight.99694

PMCID:: PMC6171812

Abstract Article PDF–2.3M

Select item 61483233.

Branching Enzyme Deficiency: Expanding the Clinical Spectrum

Carmen Paradas, Hasan O. Akman, Carolina Ionete, Heather Lau, Peter N. Riskind, David E. Jones, Thomas W. Smith, Michio Hirano, Salvatore DiMauro

JAMA Neurol. Author manuscript; available in PMC 2018 Sep 21.

Published in final edited form as: JAMA Neurol. 2014 Jan; 71(1): 41–47. doi: 10.1001/jamaneurol.2013.4888

PMCID:: PMC6148323

Abstract Article PDF–1.3M

Select item 55382824.

Triacylglycerol mimetics regulate membrane interactions of glycogen branching enzyme: implications for therapy

Rafael Alvarez, Jesús Casas, David J. López, Maitane Ibarguren, Ariadna Suari-Rivera, Silvia Terés, Francisca Guardiola-Serrano, Alexander Lossos, Xavier Busquets, Or Kakhlon, Pablo V. Escribá

J Lipid Res. 2017 Aug; 58(8): 1598–1612. Published online 2017 Jun 19. doi: 10.1194/jlr.M075531

PMCID:: PMC5538282

Abstract Article PDF–2.1M

Select item 45447535.

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

PMCID:: PMC4544753

Abstract Article PDF–960K

Select item 43299266.

Adult Polyglucosan Body Disease: Natural History and Key Magnetic Resonance Imaging Findings

Fanny Mochel, Raphael Schiffmann, Marjan E. Steenweg, Hasan O. Akman, Mary Wallace, Frédéric Sedel, Pascal Laforêt, Richard Levy, J. Michael Powers, Sophie Demeret, Thierry Maisonobe, Roseline Froissart, Bruno Barcelos Da Nobrega, Brent L. Fogel, Marvin R. Natowicz, Catherine Lubetzki, Alexandra Durr, Alexis Brice, Hanna Rosenmann, Varda Barash, Or Kakhlon, J. Moshe Gomori, Marjo S. van der Knaap, Alexander Lossos

Ann Neurol. Author manuscript; available in PMC 2015 Feb 16.

Published in final edited form as: Ann Neurol. 2012 Sep; 72(3): 433–441. doi: 10.1002/ana.23598

PMCID:: PMC4329926

Abstract Article PDF–1.1M

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from Books

Items: 6

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity