Concepedia

A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach–Nishimura skeletal dysplasia due to pathogenic variants in ALG9

Emma Tham, Erik A. Eklund, Anna Hammarsjö, Per Bengtson, Stefan Geiberger, Kristina Lagerstedt‐Robinson, Helena Malmgren, Daniel Nilsson, Gintautas Grigelionis, Peter Conner,

European Journal of Human Genetics · 2015 · 39 citations · 18 references

DOI

Concepts

References

18

Fast and accurate short read alignment with Burrows–Wheeler transform

Heng Li, Richard Durbin · Bioinformatics · 2009 · 62.8K citations · Full text

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A framework for variation discovery and genotyping using next-generation DNA sequencing data

Mark A. DePristo, Eric Banks, Ryan Poplin et al. · Nature Genetics · 2011 · 12.4K citations · Full text

, , +14

Essentials of glycobiology

G. Ya. Wiederschain · Biochemistry (Moscow) · 2009 · 4.1K citations · Full text

Precision Mapping of an In Vivo N-Glycoproteome Reveals Rigid Topological and Sequence Constraints

Dorota Zielińska, Florian Gnad, Jacek R. Wiśniewski et al. · Cell · 2010 · 914 citations · Full text

, , +15

Continuous growth reference from 24thweek of gestation to 24 months by gender

Aimon Niklasson, Kerstin Albertsson‐Wikland · BMC Pediatrics · 2008 · 373 citations · Full text

, , +17