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Results: 1-25 | 26-48
Results: 1-25/48
SUBTLE RADIOGRAPHIC FINDINGS IN CROUZON-SYNDROME WITH ACANTHOSIS NIGRICANS
Authors: SCHWEITZER DN PRZYLEPA KA GRAHAM JM LACHMAN RS JABS EW
Citation: Dn. Schweitzer et al., SUBTLE RADIOGRAPHIC FINDINGS IN CROUZON-SYNDROME WITH ACANTHOSIS NIGRICANS, Journal of investigative medicine, 46(1), 1998, pp. 120-120
NEPHRONOPHTHISIS ASSOCIATED WITH ELLIS-VAN-CREVELD-SYNDROME
Authors: MOUDGIL A BAGGA A KAMIL ES RIMOIN DL LACHMAN RS COHEN AH JORDAN SC
Citation: A. Moudgil et al., NEPHRONOPHTHISIS ASSOCIATED WITH ELLIS-VAN-CREVELD-SYNDROME, Pediatric nephrology, 12(1), 1998, pp. 20-22
BONE DYSPLASIA - INTRODUCTION AND OVERVIEW
Authors: LACHMAN RS
Citation: Rs. Lachman, BONE DYSPLASIA - INTRODUCTION AND OVERVIEW, Pediatric radiology, 28(10), 1998, pp. 735-736
INTERNATIONAL NOMENCLATURE AND CLASSIFICATION OF THE OSTEOCHONDRODYSPLASIAS (1997)
Authors: LACHMAN RS
Citation: Rs. Lachman, INTERNATIONAL NOMENCLATURE AND CLASSIFICATION OF THE OSTEOCHONDRODYSPLASIAS (1997), Pediatric radiology, 28(10), 1998, pp. 737-744
EXTRA PELVIC OSSIFICATION CENTERS IN THANATOPHORIC DYSPLASIA AND PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA-SAN DIEGO TYPE
Authors: KITOH H LACHMAN RS BRODIE SG MEKIKIAN PB RIMOIN DL WILCOX WR
Citation: H. Kitoh et al., EXTRA PELVIC OSSIFICATION CENTERS IN THANATOPHORIC DYSPLASIA AND PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA-SAN DIEGO TYPE, Pediatric radiology, 28(10), 1998, pp. 759-763
CORONAL AND SAGITTAL CLEFTS IN SKELETAL DYSPLASIAS
Authors: WESTVIK J LACHMAN RS
Citation: J. Westvik et Rs. Lachman, CORONAL AND SAGITTAL CLEFTS IN SKELETAL DYSPLASIAS, Pediatric radiology, 28(10), 1998, pp. 764-770
MESOMELIC SHORTENING OF THE UPPER EXTREMITIES WITH SPUR FORMATION ANDCUTANEOUS DIMPLING
Authors: KERNER B RIMOIN DL LACHMAN RS
Citation: B. Kerner et al., MESOMELIC SHORTENING OF THE UPPER EXTREMITIES WITH SPUR FORMATION ANDCUTANEOUS DIMPLING, Pediatric radiology, 28(10), 1998, pp. 794-797
CUMMING-SYNDROME - REPORT OF 2 ADDITIONAL CASES
Authors: DIBBERN KM GRAHAM JM LACHMAN RS WILCOX WR
Citation: Km. Dibbern et al., CUMMING-SYNDROME - REPORT OF 2 ADDITIONAL CASES, Pediatric radiology, 28(10), 1998, pp. 798-801
RADIOGRAPHIC AND MORPHOLOGIC FINDINGS IN A PREVIOUSLY UNDESCRIBED TYPE OF MESOMELIC DYSPLASIA RESEMBLING ATELOSTEOGENESIS TYPE-II
Authors: BRODIE SG LACHMAN RS CRANDALL BF FOX MA RIMOIN DL COHN DH WILCOX WR
Citation: Sg. Brodie et al., RADIOGRAPHIC AND MORPHOLOGIC FINDINGS IN A PREVIOUSLY UNDESCRIBED TYPE OF MESOMELIC DYSPLASIA RESEMBLING ATELOSTEOGENESIS TYPE-II, American journal of medical genetics, 80(3), 1998, pp. 247-251
DISTINCT, AUTOSOMAL RECESSIVE FORM OF SPONDYLOEPIMETAPHYSEAL DYSPLASIA SEGREGATING IN AN INBRED PAKISTANI KINDRED
Authors: AHMAD M ULHAQUE MF AHMAD W ABBAS H HAQUE S KRAKOW D RIMOIN DL LACHMAN RS COHN DH
Citation: M. Ahmad et al., DISTINCT, AUTOSOMAL RECESSIVE FORM OF SPONDYLOEPIMETAPHYSEAL DYSPLASIA SEGREGATING IN AN INBRED PAKISTANI KINDRED, American journal of medical genetics, 78(5), 1998, pp. 468-473
MOLECULAR, RADIOLOGIC, AND HISTOPATHOLOGIC CORRELATIONS IN THANATOPHORIC DYSPLASIA
Authors: WILCOX WR TAVORMINA PL KRAKOW D KITOH H LACHMAN RS WASMUTH JJ THOMPSON LM RIMOIN DL
Citation: Wr. Wilcox et al., MOLECULAR, RADIOLOGIC, AND HISTOPATHOLOGIC CORRELATIONS IN THANATOPHORIC DYSPLASIA, American journal of medical genetics, 78(3), 1998, pp. 274-281
PACMAN DYSPLASIA - REPORT OF 2 AFFECTED SIBS
Authors: WILCOX WR LUCAS BC LOEBEL B BACHMAN RP LACHMAN RS RIMOIN DL
Citation: Wr. Wilcox et al., PACMAN DYSPLASIA - REPORT OF 2 AFFECTED SIBS, American journal of medical genetics, 77(4), 1998, pp. 272-276
OMPHALOCELE WITH ABSENT RADIAL RAY (ORR) - A CASE WITH DIPLOID-TRIPLOID MIXOPLOIDY
Authors: LIN HJ SCHABER B HASHIMOTO CH BARAJAS L BEALL MH LACHMAN RS
Citation: Hj. Lin et al., OMPHALOCELE WITH ABSENT RADIAL RAY (ORR) - A CASE WITH DIPLOID-TRIPLOID MIXOPLOIDY, American journal of medical genetics, 75(3), 1998, pp. 235-239
ANOMALOUS INFERIOR AND SUPERIOR VENAE CAVAE WITH OCULOAURICULOVERTEBRAL DEFECT - REVIEW OF GOLDENHAR-COMPLEX AND MALFORMATIONS OF LEFT-RIGHT ASYMMETRY
Authors: LIN HJ OWENS TR SINOW RM FU PC DEVITO A BEALL MH LACHMAN RS
Citation: Hj. Lin et al., ANOMALOUS INFERIOR AND SUPERIOR VENAE CAVAE WITH OCULOAURICULOVERTEBRAL DEFECT - REVIEW OF GOLDENHAR-COMPLEX AND MALFORMATIONS OF LEFT-RIGHT ASYMMETRY, American journal of medical genetics, 75(1), 1998, pp. 88-94
GRACILE BONE DYSPLASIA
Authors: THOMAS JA RIMOIN DL LACHMAN RS WILCOX WR
Citation: Ja. Thomas et al., GRACILE BONE DYSPLASIA, American journal of medical genetics, 75(1), 1998, pp. 95-100
STRUCTURALLY ABNORMAL TYPE-II COLLAGEN IN A SEVERE FORM OF KNIEST DYSPLASIA CAUSED BY AN EXON-24 SKIPPING MUTATION
Authors: WEIS MA WILKIN DJ KIM HJ WILCOX WR LACHMAN RS RIMOIN DL COHN DH EYRE DR
Citation: Ma. Weis et al., STRUCTURALLY ABNORMAL TYPE-II COLLAGEN IN A SEVERE FORM OF KNIEST DYSPLASIA CAUSED BY AN EXON-24 SKIPPING MUTATION, The Journal of biological chemistry, 273(8), 1998, pp. 4761-4768
LOCALIZATION OF A MULTIPLE SYNOSTOSES SYNDROME DISEASE GENE TO CHROMOSOME 17Q21-22
Authors: KRAKOW D REINKER K POWELL B CANTOR R PRIORE MA GARBER A LACHMAN RS RIMOIN DL COHN DH
Citation: D. Krakow et al., LOCALIZATION OF A MULTIPLE SYNOSTOSES SYNDROME DISEASE GENE TO CHROMOSOME 17Q21-22, American journal of human genetics, 63(1), 1998, pp. 120-124
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 CERVICAL-SPINE IN THE SKELETAL DYSPLASIAS AND ASSOCIATED DISORDERS
Authors: LACHMAN RS
Citation: Rs. Lachman, THE CERVICAL-SPINE IN THE SKELETAL DYSPLASIAS AND ASSOCIATED DISORDERS, Pediatric radiology, 27(5), 1997, pp. 402-408
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
LUMBAR GIBBUS IN STORAGE DISEASES AND BONE DYSPLASIAS
Authors: LEVIN TL BERDON WE LACHMAN RS ANYANEYEBOA K RUZALSHAPIRO C ROYE DP
Citation: Tl. Levin et al., LUMBAR GIBBUS IN STORAGE DISEASES AND BONE DYSPLASIAS, Pediatric radiology, 27(4), 1997, pp. 289-294
BRACHYDACTYLY SHORT STATURE HYPERTENSION (BILGINTURAN)-SYNDROME - REPORT ON 2 FAMILIES
Authors: CHITAYAT D GRIX A BALFE JW ABRAMOWICZ JS GARZA J FONG CT SILVER MM SALLER DN BRESNICK GH GIEDION A LACHMAN RS RIMOIN DL
Citation: D. Chitayat et al., BRACHYDACTYLY SHORT STATURE HYPERTENSION (BILGINTURAN)-SYNDROME - REPORT ON 2 FAMILIES, American journal of medical genetics, 73(3), 1997, pp. 279-285
NEUROLOGIC ABNORMALITIES IN THE SKELETAL DYSPLASIAS - A CLINICAL AND RADIOLOGICAL PERSPECTIVE
Authors: LACHMAN RS
Citation: Rs. Lachman, NEUROLOGIC ABNORMALITIES IN THE SKELETAL DYSPLASIAS - A CLINICAL AND RADIOLOGICAL PERSPECTIVE, American journal of medical genetics, 69(1), 1997, pp. 33-43
THE POINTER SYNDROME - A NEW SYNDROME WITH SKELETAL ABNORMALITIES, CAMPTODACTYLY, FACIAL ANOMALIES, AND FEEDING DIFFICULTIES
Authors: HUQ AHMM BRAVERMAN RM GREENBERG F BACINO CA RIMOIN DL LACHMAN RS LEVIN ML
Citation: Ahmm. Huq et al., THE POINTER SYNDROME - A NEW SYNDROME WITH SKELETAL ABNORMALITIES, CAMPTODACTYLY, FACIAL ANOMALIES, AND FEEDING DIFFICULTIES, American journal of medical genetics, 68(2), 1997, pp. 225-230
SPONDYLO-MESOMELIC-ACRODYSPLASIA WITH JOINT DISLOCATIONS AND SEVERE COMBINED IMMUNODEFICIENCY - A NEWLY RECOGNIZED IMMUNO-OSSEOUS DYSPLASIA
Authors: CASTRIOTASCANDERBEG A MINGARELLI R CARAMIA G OSIMANI P LACHMAN RS RIMOIN DL WILCOX WR DALLAPICCOLA B
Citation: A. Castriotascanderbeg et al., SPONDYLO-MESOMELIC-ACRODYSPLASIA WITH JOINT DISLOCATIONS AND SEVERE COMBINED IMMUNODEFICIENCY - A NEWLY RECOGNIZED IMMUNO-OSSEOUS DYSPLASIA, Journal of Medical Genetics, 34(10), 1997, pp. 854-856
Risultati: 1-25 | 26-48