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2 research outputs found
Hypomorphic mutation in TTC7A causes combined immunodeficiency with mild structural intestinal defects
Author
Avitzur
Bigorgne
+24 more
Brewer
Caner Aytekin
Cecilia Domínguez Conde
Chen
Elisabeth Förster-Waldl
Elisabeth Salzer
Ferda Ozbay Hosnut
Herbert Pichler
Ivan Bilic
Jameson
Kaan Boztug
Lemoine
Nima Memaran-Dadgar
Notarangelo
Prasad
Samuels
Sema Apaydin
Srinivasan
Stavroula Woutsas
Susanne Matthes
Thomas Lion
Warnatz
Wolf-Dietrich Huber
Wolfgang Holter
Publication venue
'American Society of Hematology'
Publication date
Field of study
No full text
Crossref
A novel immunodeficiency syndrome associated with partial trisomy 19p13
Author
Agematsu
Al-Herz
+54 more
Andries
Anette Schwerin-Nagel
Arkwright
Auvin
Boisson
Brown
Byrne
Celia Duerr
Christian Urban
Conley
Dale
de Vries
Dolan
Elisabeth Förster-Waldl
Elisangela Santos-Valente
Emanuel
Farmand
Fauth
Flicek
Gallego
Gao
Gennery
Goodwin
Groth
Hanley-Lopez
Harteveld
Horwitz
Jones-Mason
Jürgen Neesen
Kaan Boztug
Kambis Sadeghi
Krudewig
Kuzmina
LeBrun
Louis
Markus G Seidel
Mayilyan
Ming
Puvabanditsin
Quigley
Ram
Reis
Sabine Uhrig
Salbert
Salzer
Siggberg
Stavroula Woutsas
Stratton
van Montfrans
Wilkie
Wilkie
Winfried F Pickl
Wolfgang Schwinger
Yang
Publication venue
'BMJ'
Publication date
Field of study
No full text
Crossref