AAAAAA

   
Results: 1-11 |
Results: 11
CHONDRODYSPLASIA PUNCTATA WITH MULTIPLE CONGENITAL-ANOMALIES - A NEW SYNDROME
Authors: MORTIER GR MESSIAEN LM ESPEEL M SMETS KJ VANZIELEGHEM BD ROELS F DEPAEPE AM
Citation: Gr. Mortier et al., CHONDRODYSPLASIA PUNCTATA WITH MULTIPLE CONGENITAL-ANOMALIES - A NEW SYNDROME, Pediatric radiology, 28(10), 1998, pp. 790-793
CORRELATION OF LINKAGE DATA WITH PHENOTYPE IN 8 FAMILIES WITH STICKLER-SYNDROME
Authors: WILKIN DJ MORTIER GR JOHNSON CL JONES MC DEPAEPE A SHOHAT M WILDIN RS FALK RE COHN DH
Citation: Dj. Wilkin et al., CORRELATION OF LINKAGE DATA WITH PHENOTYPE IN 8 FAMILIES WITH STICKLER-SYNDROME, American journal of medical genetics, 80(2), 1998, pp. 121-127
SYNDROME OF CORONAL CRANIOSYNOSTOSIS WITH BRACHYDACTYLY AND CARPAL TARSAL COALITION DUE TO PRO250ARG MUTATION IN FGFR3 GENE/
Authors: GRAHAM JM BRADDOCK SR MORTIER GR LACHMAN R VANDOP C JABS EW
Citation: Jm. Graham et al., SYNDROME OF CORONAL CRANIOSYNOSTOSIS WITH BRACHYDACTYLY AND CARPAL TARSAL COALITION DUE TO PRO250ARG MUTATION IN FGFR3 GENE/, American journal of medical genetics, 77(4), 1998, pp. 322-329
DIVERSE MUTATIONS IN THE GENE FOR CARTILAGE OLIGOMERIC MATRIX PROTEININ THE PSEUDOACHONDROPLASIA MULTIPLE EPIPHYSEAL DYSPLASIA DISEASE SPECTRUM
Authors: BRIGGS MD MORTIER GR COLE WG KING LM GOLIK SS BONAVENTURE J NUYTINCK L DEPAEPE A LEROY JG BIESECKER L LIPSON M WILCOX WR LACHMAN RS RIMOIN DL KNOWLTON RG COHN DH
Citation: Md. Briggs et al., DIVERSE MUTATIONS IN THE GENE FOR CARTILAGE OLIGOMERIC MATRIX PROTEININ THE PSEUDOACHONDROPLASIA MULTIPLE EPIPHYSEAL DYSPLASIA DISEASE SPECTRUM, American journal of human genetics, 62(2), 1998, pp. 311-319
THE SCAPULA AS A WINDOW TO THE DIAGNOSIS OF SKELETAL DYSPLASIAS
Authors: MORTIER GR RIMOIN GL LACHMAN RS
Citation: Gr. Mortier et al., THE SCAPULA AS A WINDOW TO THE DIAGNOSIS OF SKELETAL DYSPLASIAS, Pediatric radiology, 27(5), 1997, pp. 447-451
GENETIC-HETEROGENEITY IN STICKLER-SYNDROME - PHENOTYPIC EXPLORATION
Authors: WILKIN DJ LIBERFARB R MORTIER GR WARMAN M COHN DH FRANCOMANO CA
Citation: Dj. Wilkin et al., GENETIC-HETEROGENEITY IN STICKLER-SYNDROME - PHENOTYPIC EXPLORATION, American journal of human genetics, 61(4), 1997, pp. 2055-2055
PSEUDOACHONDROPLASIA AND MULTIPLE EPIPHYSEAL DYSPLASIA DUE TO MUTATIONS IN THE CARTILAGE OLIGOMERIC MATRIX PROTEIN GENE
Authors: BRIGGS MD HOFFMAN SMG KING LM OLSEN AS MOHRENWEISER H LEROY JG MORTIER GR RIMOIN DL LACHMAN RS GAINES ES CEKLENIAK JA KNOWLTON RG COHN DH
Citation: Md. Briggs et al., PSEUDOACHONDROPLASIA AND MULTIPLE EPIPHYSEAL DYSPLASIA DUE TO MUTATIONS IN THE CARTILAGE OLIGOMERIC MATRIX PROTEIN GENE, Nature genetics, 10(3), 1995, pp. 330-336
A RADIOGRAPHIC, MORPHOLOGIC, BIOCHEMICAL AND MOLECULAR ANALYSIS OF A CASE OF ACHONDROGENESIS TYPE-II RESULTING FROM SUBSTITUTION FOR A GLYCINE RESIDUE (GLY(691)-]ARG) IN THE TYPE-II COLLAGEN TRIMER
Authors: MORTIER GR WILKIN DJ WILCOX WR RIMOIN DL LACHMAN RS EYRE DR COHN DH
Citation: Gr. Mortier et al., A RADIOGRAPHIC, MORPHOLOGIC, BIOCHEMICAL AND MOLECULAR ANALYSIS OF A CASE OF ACHONDROGENESIS TYPE-II RESULTING FROM SUBSTITUTION FOR A GLYCINE RESIDUE (GLY(691)-]ARG) IN THE TYPE-II COLLAGEN TRIMER, Human molecular genetics, 4(2), 1995, pp. 285-288
BECKWITH-WIEDEMANN SYNDROME - AN UPDATE AND REVIEW FOR THE PRIMARY PEDIATRICIAN
Authors: WENG EY MORTIER GR GRAHAM JM
Citation: Ey. Weng et al., BECKWITH-WIEDEMANN SYNDROME - AN UPDATE AND REVIEW FOR THE PRIMARY PEDIATRICIAN, Clinical pediatrics, 34(6), 1995, pp. 317-326
PSEUDOACHONDROPLASIA AND MED RESULT FROM MUTATIONS IN THE CALCIUM-BINDING DOMAIN OF CARTILAGE OLIGOMERIC MATRIX PROTEIN (COMP)
Authors: BRIGGS MD HOFFMAN SMG KING LM OLSEN AS MOHRENWEISER H LEROY JG MORTIER GR RIMOIN DL GAINES ES CEKLENIAK JA KNOWLTON RG COHN DH
Citation: Md. Briggs et al., PSEUDOACHONDROPLASIA AND MED RESULT FROM MUTATIONS IN THE CALCIUM-BINDING DOMAIN OF CARTILAGE OLIGOMERIC MATRIX PROTEIN (COMP), American journal of human genetics, 57(4), 1995, pp. 241-241
5 NEW COL2A1 MUTATIONS IN THE TYPE-II COLLAGEN DISORDERS
Authors: MORTIER GR WILKIN DJ FERNANDES R EYRE D RIMOIN DL COHN DH
Citation: Gr. Mortier et al., 5 NEW COL2A1 MUTATIONS IN THE TYPE-II COLLAGEN DISORDERS, American journal of human genetics, 57(4), 1995, pp. 1277-1277
Risultati: 1-11 |