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Author/Creator Mortier, Geert R

2. NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases. Issue 4 (12th April 2012)

Authors:
El Hokayem, Joyce; Huber, Céline; Couvé, Adeline; Aziza, Jacqueline; Baujat, Geneviève; Bouvier, Raymonde; Cavalcanti, Denise P; Collins, Felicity A; Cordier, Marie-Pierre; Delezoide, Anne-Lise; Gonzales, Marie; Johnson, Diana; Le Merrer, Martine; Levy-Mozziconacci, Annie; Loget, Philippe; Martin...
Journal:
Journal of medical genetics
Issue:
Volume 49:Issue 4(2012)
Page Start:
227
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

3. Report of five novel and one recurrentCOL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder. Issue 4 (1st April 2000)

Authors:
Mortier, Geert R; Weis, MaryAnn; Nuytinck, Lieve; King, Lily M; Wilkin, Douglas J; De Paepe, Anne; Lachman, Ralph S; Rimoin, David L; Eyre, David R; Cohn, Daniel H
Journal:
Journal of medical genetics
Issue:
Volume 37:Issue 4(2000)
Page Start:
263
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

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