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2 research outputs found
Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development
Author
Amiel J
AttiĂ©âBitach T
+23Â more
Aubry MâC
Audollent S
Chemouny S
ClĂ©mentâZiza M
Cruaud C
Delezoide AâL
Dumez Y
EnchaâRazavi F
Esculpavit C
Etchevers H C
Fredouille C
Gonzales M
Goudefroye G
Joye N
Lyonnet S
Martinovic J
MorichonâDelvallez N
Munnich A
Ozilou C
Pelet A
Sanlaville D
Vekemans M
Weissenbach J
Publication venue
BMJ Group
Publication date
Field of study
No full text
Crossref
PubMed Central
CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation.
Author
Amiel J
Attié Bitach T.
+30Â more
Audollent S
Babarit C
Boddaert N
Bouvier R
Cordier MP
Delezoide AL
Elkhartoufi N
Encha Razavi F
Escudier E
Esculpavit C
Gonzales M
Gubler MC
GĂ©rard M
Khung S
Leheup B
Loget P
Martinovic J
Mougou Zerelli S
Munnich A
Odent S
Patrier S
Romano S
Roume J
Saad A
Salomon R
Saunier S
Szenker E
Thomas S
VALENTE Enza Maria
Vekemans M
Publication venue
'Wiley'
Publication date
01/01/2009
Field of study
No full text
Archivio della Ricerca - UniversitĂ di Salerno
No full text
