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Results: 1-10 |
Results: 10
MUTATIONS OF THE PHENYLALANINE-HYDROXYLASE GENE IN MILD HYPERPHENYLALANINEMIA - A NOVEL MUTATION IN EXON-3
Authors: ZEKANOWSKI C CABALSKA B BORSUK P BAL J
Citation: C. Zekanowski et al., MUTATIONS OF THE PHENYLALANINE-HYDROXYLASE GENE IN MILD HYPERPHENYLALANINEMIA - A NOVEL MUTATION IN EXON-3, Human mutation, 1998, pp. 325-326
MUTATIONS OF THE PHENYLALANINE-HYDROXYLASE GENE IN MILD HYPERPHENYLALANINEMIA - A NOVEL MUTATION IN EXON-3
Authors: ZEKANOWSKI C CABALSKA B BORSUK P BAL J
Citation: C. Zekanowski et al., MUTATIONS OF THE PHENYLALANINE-HYDROXYLASE GENE IN MILD HYPERPHENYLALANINEMIA - A NOVEL MUTATION IN EXON-3, Human mutation, 10(3), 1997, pp. 258-259
GEOGRAPHIC-DISTRIBUTION AND REGIONAL ORIGIN OF 272 CYSTIC-FIBROSIS INEUROPEAN POPULATIONS
Authors: ESTIVILL X BANCELLS C RAMOS C PIAZZA A CARBONARA A MASTELLA G BONIZZATO A CASTALDI G DALCAMO E FERRARI M GASPARINI P GUANTI G LEONI GB PIGNATTI PF RONCHETTO P SEIA M TORRICELLI F GOOSSENS M CHEVALIERPORST F BOZON D SIMONBOUY B FELDMANN D ELION J KAPLAN JC FEREC C CLAUSTRES M CLAVEL C PUCHELLE E LUNARDI J MATHIEU M SCHEFFER H HALLEY DJJ VANDENOUWELAND AMW TIJMENSEN ASLN CASALS T GIMENEZ FJ RAMOS L BENEYTO M BENITEZ J PALACIO A TUMMLER B BAUER I MEITINGER T CLAASS A LINDNER M SCHRODER E STUHRMANN M CASSIMAN J CUPPENS H COCHAUX P PONCIN J MESSIAN L BARANOV VS IVASCHENKO TE BAKAY M BAL J WITT M KANAVAKIS M TZETIS M ANTONIADI T LAVINHA J PACHECO P DUARTE A LOUREIRO P KALAYDJIEVA L ANGELICHEVA D JORDANOVA A SAVOV A EIKLID K HOLMBERG L SCHAEDEL C OZGUC M GOCMEN A ERDERN H LIECHTIGALLATI S NEMETI M FEKETE G KLAASSEN T SCHWARZ M SCHWARTZ M MACEK M MACEK M KREBSOVA A VAVROVA V KEREM B AVELIOVICH D FERAK V KADASI L KAYSEROVA H GLAVAC D RAVNIKGLAVAC M EFREMOV GD CANKIKLEIN N KERE J
Citation: X. Estivill et al., GEOGRAPHIC-DISTRIBUTION AND REGIONAL ORIGIN OF 272 CYSTIC-FIBROSIS INEUROPEAN POPULATIONS, Human mutation, 10(2), 1997, pp. 135-154
MOLECULAR-BASIS OF MILD HYPERPHENYLALANINEMIA IN POLAND
Authors: ZEKANOWSKI C NOWACKA M CABALSKA B BAL J
Citation: C. Zekanowski et al., MOLECULAR-BASIS OF MILD HYPERPHENYLALANINEMIA IN POLAND, Journal of Medical Genetics, 34(12), 1997, pp. 1035-1036
FREQUENCY OF FRA-X-SYNDROME AMONG INSTITUTIONALIZED MENTALLY-RETARDEDMALES IN POLAND
Authors: MAZURCZAK T BOCIAN E MILEWSKI M OBERSZTYN E STANCZAK H BAL J SZAMOTULSKA K KARWACKI MW
Citation: T. Mazurczak et al., FREQUENCY OF FRA-X-SYNDROME AMONG INSTITUTIONALIZED MENTALLY-RETARDEDMALES IN POLAND, American journal of medical genetics, 64(1), 1996, pp. 184-186
ANALYSIS OF UNSTABLE DNA-SEQUENCE IN FRM1 GENE IN POLISH FAMILIES WITH FRAGILE-X SYNDROME
Authors: MILEWSKI M ZYGULSKA M BAL J DEELEN WH OBERSZTYN E BOCIAN E HALLEY DJJ HORST J MAZURCZAK T
Citation: M. Milewski et al., ANALYSIS OF UNSTABLE DNA-SEQUENCE IN FRM1 GENE IN POLISH FAMILIES WITH FRAGILE-X SYNDROME, Acta Biochimica Polonica, 43(2), 1996, pp. 383-388
NO EVIDENCE FOR SEGREGATION DISTORTION OF CYSTIC-FIBROSIS ALLELES AMONG SIBS OF CYSTIC-FIBROSIS PATIENTS
Authors: DEVOTO M ROMEO G TENKATE LP CHEVALIER F BOZON D ESTIVILL X CASALS T ABELIOVICH D LERER I PADOAN R SEIA M HILL A LIECHTIGALLATI S KRAMER R BEARDS F DEAR S DALLAPICCOLA B SANGIUOLO F MACEK M MACEK M MCMAHON R CONNARTY M HARVEY JF CLAUSTRES M DESGEORGES M DEVRIES R SCHEFFER H CANKIKLAIN N AUDREZET MP BIENVENU T CHOMEL JC DZIADEK V TUMMLER B SCHWARZ M HAWORTH A BENITEZ J FERNANDEZ E MAZURCZAK T BAL J CREMONESI L RONCHETTO P CASHMAN SM FEREC C CUPPENS H BAUER I ANGELICHEVA D WAGNER K PACHECO P BONIZZATO A WITT M MCMAHON CJ RAVNIKGLAVAC M REIS A STUHRMANN M GARNERONE S CURTIS A GRUNING G KANAVAKIS E KLAASSEN T GRADE T
Citation: M. Devoto et al., NO EVIDENCE FOR SEGREGATION DISTORTION OF CYSTIC-FIBROSIS ALLELES AMONG SIBS OF CYSTIC-FIBROSIS PATIENTS, European journal of human genetics, 3(5), 1995, pp. 324-325
CHONDROSARCOMA IN A PATIENT WITH RELAPSING POLYCHONDRITIS
Authors: FRANSEN HRA RAMON FA DESCHEPPER AMA DEBEUCKELEER LHL BAL J GOOVAERTS G
Citation: Hra. Fransen et al., CHONDROSARCOMA IN A PATIENT WITH RELAPSING POLYCHONDRITIS, Skeletal radiology, 24(6), 1995, pp. 477-480
POLYMERIZATION OF ALPHA-HYDROXYACETYLENES BY TRANSITION-METAL CATALYSTS
Authors: GAL YS BAL J KIM JH LEE WC CHOI SK
Citation: Ys. Gal et al., POLYMERIZATION OF ALPHA-HYDROXYACETYLENES BY TRANSITION-METAL CATALYSTS, Journal of macromolecular science. Pure and applied chemistry, A31(9), 1994, pp. 1177-1191
ANALYSIS OF FMR-1-GENE MUTATIONS IN 16 POLISH FAMILIES WITH FRA-X SYNDROME
Authors: ZYGULSKA M MILEWSKI M WITTWER B EIGEL A BAL J MAZURCZAK T HORST J
Citation: M. Zygulska et al., ANALYSIS OF FMR-1-GENE MUTATIONS IN 16 POLISH FAMILIES WITH FRA-X SYNDROME, American journal of human genetics, 53(3), 1993, pp. 1769-1769
Risultati: 1-10 |