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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 25, 2025. (Total: 235671Documents)
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Records 1 - 4 (of 4 Records)

Query Trace: Disease and NAGLU[original query]
Prevalence and Novel Mutations of Lysosomal Storage Disorders in United Arab Emirates : LSD in UAE.
JIMD reports 2013 10 1-9.
Al-Jasmi Fatma A, Tawfig Nafisa, Berniah Ans, Ali Bassam R, Taleb Mahmoud, Hertecant Jozef L, Bastaki Fatma, Souid Abdul-Kad
Clinical, biochemical and molecular features of Iranian families with mucopolysaccharidosis: A case series.
Clinica chimica acta; international journal of clinical chemistry 2017 8 474 88-95.
Yassaee Vahid Reza, Hashemi-Gorji Feyzollah, Miryounesi Mohammad, Rezayi Alireza, Ravesh Zeinab, Yassaee Fakhrolmolouk, Salehpour Shad
Utilizing ExAC to assess the hidden contribution of variants of unknown significance to Sanfilippo Type B incidence.
PloS one 2018 13 (7): e0200008.
Clark Wyatt T, Yu G Karen, Aoyagi-Scharber Mika, LeBowitz Jonathan
Novel gene-specific Bayesian Gaussian mixture model to predict the missense variants pathogenicity of Sanfilippo syndrome.
Scientific reports 2024 5 14 (1): 12148.
Eman E A Mohammed, Alaaeldin G Fayez, Nabil M Abdelfattah, Ekram Fate
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