1 research outputs found
PGM3 Mutations Cause a Congenital Disorder of Glycosylation with Severe Immunodeficiency and Skeletal Dysplasia
- Author
- Al-Herz
- Ankita Patel
- Arild Rønnestad
- Arnold
- Arnold
- Asbjørg Stray-Pedersen
- Bainbridge
- Bainbridge
- Baratela
- Boone
- Boone
- Bui
- Calì
- Caridad A. Martinez
- Carsten Speckmann
- Cecilie F. Rustad
- Challis
- Chan
- Cheung
- Christine R. Beck
- Coman
- Danecek
- de Ligt
- DePristo
- Donna M. Muzny
- Drijvers
- Ekkehart Lausch
- Elorza
- Else Merckoll
- Eric A. Boerwinkle
- Faivre
- Fang
- Foulquier
- Foulquier
- Freeze
- Freeze
- Gen Nishimura
- Ghadir S. Sasa
- Greig
- Hanne S. Sorte
- Hans Christian Erichsen
- Harms
- Huber
- I. Celine Hanson
- Jaeken
- Jaeken
- James R. Lupski
- Jordan S. Orange
- Jostein Westvik
- Kang
- Katja B.P. Elgstøen
- Keerthikumar
- Kimiyo M. Raymond
- Kranz
- Lacey
- Lars Mørkrid
- Lausch
- Li
- Li
- Li
- Lisa R. Forbes
- Liv T. Osnes
- Lupski
- Magnar Bjørås
- Marcin W. Wlodarski
- Marcus Krüger
- Mariappa
- Maruyama
- Milewski
- Morava
- Ng
- Niti Y. Chokshi
- Nizon
- Olaug K. Rødningen
- Pang
- Patricia Hall
- Paul H. Backe
- Pérez
- Richard A. Gibbs
- Robert A. Krance
- Sassi
- Shalini N. Jhangiani
- Shearer
- Shirley M. Abraham
- Stephan Ehl
- Tegtmeyer
- Timal
- Tomasz Gambin
- Tore G. Abrahamsen
- Torstein Egeland
- Uhlen
- Vissers
- Yang
- Zhang
- Publication venue
- 'Elsevier BV'
- Publication date
- Field of study
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