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Items: 6

1.
Mucolipidosis types II and III and non-syndromic stuttering are associated with different variants in the same genes
M Hashim Raza, Carlos E F Domingues, Ronald Webster, Eduardo Sainz, Emily Paris, Rachel Rahn, Joanne Gutierrez, Ho Ming Chow, Jennifer Mundorff, Chang-soo Kang, Naveeda Riaz, Muhammad A R Basra, Shaheen Khan, Sheikh Riazuddin, Danilo Moretti-Ferreira, Allen Braun, Dennis Drayna
Eur J Hum Genet. 2016 Apr; 24(4): 529–534. Published online 2015 Jul 1. doi: 10.1038/ejhg.2015.154
PMCID:
PMC4929873
AbstractArticlePDF–253K
2.
Association between Rare Variants in AP4E1, a Component of Intracellular Trafficking, and Persistent Stuttering
M. Hashim Raza, Rafael Mattera, Robert Morell, Eduardo Sainz, Rachel Rahn, Joanne Gutierrez, Emily Paris, Jessica Root, Beth Solomon, Carmen Brewer, M. Asim Raza Basra, Shaheen Khan, Sheikh Riazuddin, Allen Braun, Juan S. Bonifacino, Dennis Drayna
Am J Hum Genet. 2015 Nov 5; 97(5): 715–725. Published online 2015 Nov 5. doi: 10.1016/j.ajhg.2015.10.007
PMCID:
PMC4667129
AbstractArticlePDF–1.0M
3.
Association study of stuttering candidate genes GNPTAB, GNPTG and NAGPA with dyslexia in Chinese population
Huan Chen, Junquan Xu, Yuxi Zhou, Yong Gao, Guoqing Wang, Jiguang Xia, Michael SY Huen, Wai Ting Siok, Yuyang Jiang, Li Hai Tan, Yimin Sun
BMC Genet. 2015; 16: 7. Published online 2015 Feb 3. doi: 10.1186/s12863-015-0172-5
PMCID:
PMC4342093
AbstractArticlePDF–705K
4.
A role for inherited metabolic deficits in persistent developmental stuttering
Changsoo Kang, Dennis Drayna
Mol Genet Metab. Author manuscript; available in PMC 2013 Nov 1.
Published in final edited form as: Mol Genet Metab. 2012 Nov; 107(3): 276–280. Published online 2012 Jul 28. doi: 10.1016/j.ymgme.2012.07.020
PMCID:
PMC3483359
AbstractArticlePDF–471K
5.
Lysosomal Hydrolase Mannose 6-Phosphate Uncovering Enzyme Resides in the trans-Golgi Network
Jack Rohrer, Rosalind Kornfeld
Mol Biol Cell. 2001 Jun; 12(6): 1623–1631. doi: 10.1091/mbc.12.6.1623
PMCID:
PMC37329
AbstractArticlePDF–619K
6.
Sequencing Primate Genomes: What Have We Learned?
Tomas Marques-Bonet, Oliver A. Ryder, Evan E. Eichler
Annu Rev Genomics Hum Genet. Author manuscript; available in PMC 2019 Jul 29.
Published in final edited form as: Annu Rev Genomics Hum Genet. 2009; 10: 355–386. doi: 10.1146/annurev.genom.9.081307.164420
PMCID:
PMC6662594
AbstractArticlePDF–2.0M

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