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Results: 1-10 |
Results: 10
RFLP DISCORDANCE IN A PKU FAMILY DUE TO A DELETION IN THE PAH GENE
Authors: BOSCO P CERATTO N CALI F GOLTSOV AA EISENSMITH RC NOVELLI G DALLAPICCOLA B ROMANO V
Citation: P. Bosco et al., RFLP DISCORDANCE IN A PKU FAMILY DUE TO A DELETION IN THE PAH GENE, Turkish Journal of Pediatrics, 38(4), 1996, pp. 497-504
MOLECULAR-BASIS OF PHENYLKETONURIA AND A CORRELATION BETWEEN GENOTYPEAND PHENOTYPE IN A HETEROGENEOUS SOUTHEASTERN US POPULATION
Authors: EISENSMITH RC MARTINEZ DR KUZMIN AI GOLTSOV AA BROWN A SINGH R ELSAS LJ WOO SLC
Citation: Rc. Eisensmith et al., MOLECULAR-BASIS OF PHENYLKETONURIA AND A CORRELATION BETWEEN GENOTYPEAND PHENOTYPE IN A HETEROGENEOUS SOUTHEASTERN US POPULATION, Pediatrics, 97(4), 1996, pp. 512-516
PHENYLKETONURIA IN COSTA-RICA - PRELIMINARY SPECTRUM OF PAH MUTATIONSAND THEIR ASSOCIATIONS WITH HIGHLY POLYMORPHIC HAPLOTYPES
Authors: SANTOS M KUZMIN AI EISENSMITH RC GOLTSOV AA WOO SLC BARRANTES R DECESPEDES C
Citation: M. Santos et al., PHENYLKETONURIA IN COSTA-RICA - PRELIMINARY SPECTRUM OF PAH MUTATIONSAND THEIR ASSOCIATIONS WITH HIGHLY POLYMORPHIC HAPLOTYPES, Human heredity, 46(3), 1996, pp. 128-131
COMPLETE SPECTRUM OF PAH MUTATIONS IN TATARIA - PRESENCE OF SLAVIC, TURKIC AND SCANDINAVIAN MUTATIONS
Authors: KUZMIN AI EISENSMITH RC GOLTSOV AA SERGEEVA NA SCHWARTZ EI WOO SLC
Citation: Ai. Kuzmin et al., COMPLETE SPECTRUM OF PAH MUTATIONS IN TATARIA - PRESENCE OF SLAVIC, TURKIC AND SCANDINAVIAN MUTATIONS, European journal of human genetics, 3(4), 1995, pp. 246-255
DELETION MUTAGENESIS OF HUMAN PHENYLALANINE-HYDROXYLASE - EXPRESSION IN-VITRO AND IN-VIVO
Authors: GOLTSOV AA WOO SLC EISENSMITH RC
Citation: Aa. Goltsov et al., DELETION MUTAGENESIS OF HUMAN PHENYLALANINE-HYDROXYLASE - EXPRESSION IN-VITRO AND IN-VIVO, American journal of human genetics, 57(4), 1995, pp. 1388-1388
RECURRENCE OF THE R408W MUTATION IN THE PHENYLALANINE-HYDROXYLASE LOCUS IN EUROPEANS
Authors: EISENSMITH RC GOLTSOV AA ONEILL C TYFIELD LA SCHWARTZ EI KUZMIN AI BARANOVSKAYA SS TSUKERMAN GL TREACY E SCRIVER CR GUTTLER F GULDBERG P EIKEN HG APOLD J SVENSSON E NAUGHTEN E CAHALANE SF CROKE DT COCKBURN F WOO SLC
Citation: Rc. Eisensmith et al., RECURRENCE OF THE R408W MUTATION IN THE PHENYLALANINE-HYDROXYLASE LOCUS IN EUROPEANS, American journal of human genetics, 56(1), 1995, pp. 278-286
A SIMPLE, RAPID, AND HIGHLY INFORMATIVE PCR-BASED PROCEDURE FOR PRENATAL-DIAGNOSIS AND CARRIER SCREENING OF PHENYLKETONURIA
Authors: EISENSMITH RC GOLTSOV AA WOO SLC
Citation: Rc. Eisensmith et al., A SIMPLE, RAPID, AND HIGHLY INFORMATIVE PCR-BASED PROCEDURE FOR PRENATAL-DIAGNOSIS AND CARRIER SCREENING OF PHENYLKETONURIA, Prenatal diagnosis, 14(12), 1994, pp. 1113-1118
THE SPECTRUM OF BETA-THALASSEMIA MUTATIONS IN AZERBAIJAN
Authors: TAGIEV AF SURIN VL GOLTSOV AA LUKIANENKO AV SOLOVYEV GY GULIEVA EA PLUTALOV OV KABOEV OK MAMEDOVA TA DADASHEVA TS RUSTAMOV RS SCHWARTZ EI BERLIN YA
Citation: Af. Tagiev et al., THE SPECTRUM OF BETA-THALASSEMIA MUTATIONS IN AZERBAIJAN, Human mutation, 2(2), 1993, pp. 152-154
A SINGLE POLYMORPHIC STR SYSTEM IN THE HUMAN PHENYLALANINE-HYDROXYLASE GENE PERMITS RAPID PRENATAL-DIAGNOSIS AND CARRIER SCREENING FOR PHENYLKETONURIA
Authors: GOLTSOV AA EISENSMITH RC NAUGHTON ER JIN L CHAKRABORTY R WOO SLC
Citation: Aa. Goltsov et al., A SINGLE POLYMORPHIC STR SYSTEM IN THE HUMAN PHENYLALANINE-HYDROXYLASE GENE PERMITS RAPID PRENATAL-DIAGNOSIS AND CARRIER SCREENING FOR PHENYLKETONURIA, Human molecular genetics, 2(5), 1993, pp. 577-581
DISTRIBUTION OF THE PHENYLALANINE-HYDROXYLASE MUTATION R408W IN THE COMMONWEALTH-OF-INDEPENDENT-STATES (CIS)
Authors: GOLTSOV AA EISENSMITH RC SCHWARTZ EI WOO SLC
Citation: Aa. Goltsov et al., DISTRIBUTION OF THE PHENYLALANINE-HYDROXYLASE MUTATION R408W IN THE COMMONWEALTH-OF-INDEPENDENT-STATES (CIS), American journal of human genetics, 53(3), 1993, pp. 809-809
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