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Results: 1-8 |
Results: 8

Authors: CHARNAS LR HOPKINS E MARINI JC
Citation: Lr. Charnas et al., THE DYNAMIC DEFORMATION SEQUENCE OF BASILAR INVAGINATION IN OSTEOGENESIS IMPERFECTA, American journal of human genetics, 61(4), 1997, pp. 519-519

Authors: JABS EW LI X SCOTT AF MEYERS G CHEN W ECCLES M MAO JI CHARNAS LR JACKSON CE JAYE M
Citation: Ew. Jabs et al., JACKSON-WEISS-SYNDROME AND CROUZON-SYNDROME ARE ALLELIC WITH MUTATIONS IN FIBROBLAST GROWTH-FACTOR RECEPTOR-2, Nature genetics, 8(3), 1994, pp. 275-279

Authors: CHARNAS LR LUCIANO CA DALAKAS M GILLIATT RW BERNARDINI I ISHAK K CWIK VA FRAKER D BRUSHART TA GAHL WA
Citation: Lr. Charnas et al., DISTAL VACUOLAR MYOPATHY IN NEPHROPATHIC CYSTINOSIS, Annals of neurology, 35(2), 1994, pp. 181-188

Authors: JANNE PA DUTRA AS DRACOPOLI NC CHARNAS LR PUCK JM NUSSBAUM RL
Citation: Pa. Janne et al., LOCALIZATION OF THE 75-KDA INOSITOL POLYPHOSPHATE-5-PHOSPHATASE (INPP5B) TO HUMAN-CHROMOSOME BAND-1P34, Cytogenetics and cell genetics, 66(3), 1994, pp. 164-166

Authors: MILLER RC WOLF EJ GOULD M MACRI CJ CHARNAS LR
Citation: Rc. Miller et al., FETAL OCULOCEREBRORENAL SYNDROME OF LOWE ASSOCIATED WITH ELEVATED MATERNAL SERUM AND AMNIOTIC-FLUID ALPHA-FETOPROTEIN LEVELS, Obstetrics and gynecology, 84(1), 1994, pp. 77-80

Authors: KENWORTHY L PARK T CHARNAS LR
Citation: L. Kenworthy et al., COGNITIVE AND BEHAVIORAL PROFILE OF THE OCULOCEREBRORENAL SYNDROME OFLOWE, American journal of medical genetics, 46(3), 1993, pp. 297-303

Authors: GAHL WA BERNARDINI IM DALAKAS MC MARKELLO TC KRASNEWICH DM CHARNAS LR
Citation: Wa. Gahl et al., MUSCLE CARNITINE REPLETION BY LONG-TERM CARNITINE SUPPLEMENTATION IN NEPHROPATHIC CYSTINOSIS, Pediatric research, 34(2), 1993, pp. 115-119

Authors: CHARNAS LR MARINI JC
Citation: Lr. Charnas et Jc. Marini, COMMUNICATING HYDROCEPHALUS, BASILAR INVAGINATION, AND OTHER NEUROLOGIC FEATURES IN OSTEOGENESIS IMPERFECTA, Neurology, 43(12), 1993, pp. 2603-2608
Risultati: 1-8 |