PMC Links for Books (Select 3064056) - PMC

Select item 93144841.

Variation among DNA banking consent forms: points for clinicians to bank on

Samuel J. Huang, Laura M. Amendola, Darci L. Sternen

J Community Genet. 2022 Aug; 13(4): 389–397. Published online 2022 Jul 14. doi: 10.1007/s12687-022-00601-3

PMCID:: PMC9314484

Select item 68545952.

Early-onset epilepsy and microcephaly-capillary malformation syndrome caused by a novel STAMBP mutation in a Chinese boy

Fangrui Wu, Ying Dai, Juan Wang, Min Cheng, Yanqin Wang, Xiujuan Li, Ping Yuan, Shuang Liao, Li Jiang, Jin Chen, Lisi Yan, Min Zhong

Mol Med Rep. 2019 Dec; 20(6): 5145–5151. Published online 2019 Oct 17. doi: 10.3892/mmr.2019.10757

PMCID:: PMC6854595

Abstract Article PDF–612K

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

PMCID:: PMC4544753

Abstract Article PDF–960K

Select item 40002534.

Mutations in STAMBP, encoding a deubiquitinating enzyme, cause Microcephaly-Capillary Malformation syndrome

Laura M. McDonell, Ghayda M. Mirzaa, Diana Alcantara, Jeremy Schwartzentruber, Melissa T. Carter, Leo J. Lee, Carol L. Clericuzio, John M. Graham, Jr, Deborah J. Morris-Rosendahl, Tilman Polster, Gyula Acsadi, Sharron Townshend, Simon Williams, Anne Halbert, Bertrand Isidor, Christopher D. Smyser, Alex R. Paciorkowski, Marcia Willing, John Woulfe, Soma Das, Chandree L. Beaulieu, Janet Marcadier, FORGE Canada Consortium, Michael T. Geraghty, Brendan J. Frey, Jacek Majewski, Dennis E. Bulman, William B. Dobyns, Mark O’Driscoll, Kym M. Boycott

Nat Genet. Author manuscript; available in PMC 2014 Apr 25.

Published in final edited form as: Nat Genet. 2013 May; 45(5): 556–562. Published online 2013 Mar 31. doi: 10.1038/ng.2602

PMCID:: PMC4000253

Abstract Article PDF–1.1M

Select item 34283745.

The Microcephaly-Capillary Malformation Syndrome

Ghayda M. Mirzaa, Alex R. Paciorkowski, Christopher D. Smyser, Marcia C. Willing, Anne C. Lind, William B. Dobyns

Am J Med Genet A. Author manuscript; available in PMC 2012 Aug 27.

Published in final edited form as: Am J Med Genet A. 2011 Sep; 155A(9): 2080–2087. Published online 2011 Aug 3. doi: 10.1002/ajmg.a.34118

PMCID:: PMC3428374

Abstract Article PDF–4.4M

Select item 33213556.

Structural and Thermodynamic Comparison of the Catalytic Domain of AMSH and AMSH-LP: Nearly Identical Fold but Different Stability

Christopher W. Davies, Lake N. Paul, Myung-Il Kim, Chittaranjan Das

J Mol Biol. Author manuscript; available in PMC 2012 Oct 21.

Published in final edited form as: J Mol Biol. 2011 Oct 21; 413(2): 416–429. Published online 2011 Aug 24. doi: 10.1016/j.jmb.2011.08.029

PMCID:: PMC3321355

Abstract Article PDF–4.2M

Select item 28595617.

AMSH Interacts with ESCRT-0 to Regulate the Stability and Trafficking of CXCR4

Maria I. Sierra, Michelle H. Wright, Piers D. Nash

J Biol Chem. 2010 Apr 30; 285(18): 13990–14004. Published online 2010 Feb 16. doi: 10.1074/jbc.M109.061309

PMCID:: PMC2859561

Abstract Article PDF–2.4M

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from Books

Items: 7

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity