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Results: 1-10 |
Results: 10
DIVERSITY OF CYSTIC-FIBROSIS MUTATION-SCREENING PRACTICES
Authors: GRODY WW DESNICK RJ CARPENTER NJ NOLL WW
Citation: Ww. Grody et al., DIVERSITY OF CYSTIC-FIBROSIS MUTATION-SCREENING PRACTICES, American journal of human genetics, 62(5), 1998, pp. 1252-1254
LETTER TO THE EDITOR - PULMONARY AGENESIS - IMPORTANCE OF DETAILED CYTOGENETIC STUDIES
Authors: SAY B CARPENTER NJ
Citation: B. Say et Nj. Carpenter, LETTER TO THE EDITOR - PULMONARY AGENESIS - IMPORTANCE OF DETAILED CYTOGENETIC STUDIES, American journal of medical genetics, 76(5), 1998, pp. 446-446
CLINICAL-APPLICATIONS OF PRIMED IN-SITU LABELING (PRINS) RAPID IDENTIFICATION OF A MARKER CHROMOSOME IN A FETUS
Authors: VELAGALETI GVN CARPENTER NJ THARAPEL AT
Citation: Gvn. Velagaleti et al., CLINICAL-APPLICATIONS OF PRIMED IN-SITU LABELING (PRINS) RAPID IDENTIFICATION OF A MARKER CHROMOSOME IN A FETUS, Annales de genetique, 40(3), 1997, pp. 154-157
NATURAL-HISTORY OF COGNITIVE AND ADAPTIVE-BEHAVIOR IN YOUNG FRAGILE-XMALES AND FEMALES - A 6-YEAR PROSPECTIVE MULTICENTER STUDY
Authors: FISCH GS HOLDEN JJA CHALIFOUX M CARPENTER NJ HOWARDPEEBLES PN MADDALENA A SIMENSEN R TARLETON J BORGHGRAEF M STEYAERT J FRYNS JP
Citation: Gs. Fisch et al., NATURAL-HISTORY OF COGNITIVE AND ADAPTIVE-BEHAVIOR IN YOUNG FRAGILE-XMALES AND FEMALES - A 6-YEAR PROSPECTIVE MULTICENTER STUDY, American journal of human genetics, 61(4), 1997, pp. 18-18
FAMILIAL DELETION OF CHROMOSOME-18 (P11.2)
Authors: VELAGALETI GVN HARRIS S CARPENTER NJ COLDWELL J SAY B
Citation: Gvn. Velagaleti et al., FAMILIAL DELETION OF CHROMOSOME-18 (P11.2), Annales de genetique, 39(4), 1996, pp. 201-204
PARTIAL TRISOMY 13Q IDENTIFIED BY SEQUENTIAL FLUORESCENCE IN-SITU HYBRIDIZATION
Authors: RAO VVNG CARPENTER NJ GUCSAVAS M COLDWELL J SAY B
Citation: Vvng. Rao et al., PARTIAL TRISOMY 13Q IDENTIFIED BY SEQUENTIAL FLUORESCENCE IN-SITU HYBRIDIZATION, American journal of medical genetics, 58(1), 1995, pp. 50-53
DIAGNOSIS OF MICRODELETION SYNDROMES - HIGH-RESOLUTION CHROMOSOME ANALYSIS VERSUS FLUORESCENCE IN-SITU HYBRIDIZATION
Authors: GOPAL VVN ROOP H CARPENTER NJ
Citation: Vvn. Gopal et al., DIAGNOSIS OF MICRODELETION SYNDROMES - HIGH-RESOLUTION CHROMOSOME ANALYSIS VERSUS FLUORESCENCE IN-SITU HYBRIDIZATION, The American journal of the medical sciences, 309(4), 1995, pp. 208-212
GENETIC ANTICIPATION - EXPANDING TANDEM REPEATS
Authors: CARPENTER NJ
Citation: Nj. Carpenter, GENETIC ANTICIPATION - EXPANDING TANDEM REPEATS, Neurologic clinics, 12(4), 1994, pp. 683-697
MATERNAL SERUM-FREE BETA-HCG SCREENING - RESULTS OF STUDIES INCLUDING480 CASES OF DOWN-SYNDROME
Authors: MACRI JN SPENCER K GARVER K BUCHANAN PD SAY B CARPENTER NJ MULLER F BOUE A
Citation: Jn. Macri et al., MATERNAL SERUM-FREE BETA-HCG SCREENING - RESULTS OF STUDIES INCLUDING480 CASES OF DOWN-SYNDROME, Prenatal diagnosis, 14(2), 1994, pp. 97-103
IS FRAGILE X-SYNDROME A PERVASIVE DEVELOPMENTAL DISABILITY - COGNITIVE AND ADAPTIVE ABILITIES IN MALES WITH THE FULL MUTATION
Authors: FISCH GS HOLDEN JJA SIMENSEN R CARPENTER NJ HOWARDPEEBLES PN MADDALENA A SANDGRUND A JACQUES JR MCGANN B
Citation: Gs. Fisch et al., IS FRAGILE X-SYNDROME A PERVASIVE DEVELOPMENTAL DISABILITY - COGNITIVE AND ADAPTIVE ABILITIES IN MALES WITH THE FULL MUTATION, American journal of human genetics, 53(3), 1993, pp. 432-432
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