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Results: 1-16 |
Results: 16

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

Authors: JORDANOVA A KALAYDJIEVA L SAVOV A CLAUSTRES M SCHWARZ M ESTIVILL X ANGELICHEVA D HAWORTH A CASALS T KREMENSKY I
Citation: A. Jordanova et al., SSCP ANALYSIS - A BLIND SENSITIVITY TRIAL, Human mutation, 10(1), 1997, pp. 65-70

Authors: ANGELICHEVA D CALAFELL F SAVOV A JORDANOVA A KUFARDJIEVA A GALEVA I NEDKOVA V IVANOVA T YANKOVA P KONSTANTINOVA D GENEV E KALAYDJIEVA L
Citation: D. Angelicheva et al., CYSTIC-FIBROSIS MUTATIONS AND ASSOCIATED HAPLOTYPES IN BULGARIA - A COMPARATIVE POPULATION GENETIC-STUDY, Human genetics, 99(4), 1997, pp. 513-520

Authors: MARKOFF A SAVOV A VLADIMIROV V BOGDANOVA N KERMENSKY I GANEV V
Citation: A. Markoff et al., OPTIMIZATION OF SINGLE-STRAND CONFORMATION POLYMORPHISM ANALYSIS IN THE PRESENCE OF POLYETHYLENE-GLYCOL (VOL 43, PG 30, 1997), Clinical chemistry, 43(4), 1997, pp. 692-692

Authors: MARKOFF A SAVOV A VLADIMIROV V BOGDANOVA N KREMENSKY I GANEV V
Citation: A. Markoff et al., OPTIMIZATION OF SINGLE-STRAND CONFORMATION POLYMORPHISM ANALYSIS IN THE PRESENCE OF POLYETHYLENE-GLYCOL, Clinical chemistry, 43(1), 1997, pp. 30-33

Authors: KALAYDJIEVA L HALLMAYER J CHANDLER D SAVOV A NIKOLOVA A ANGELICHEVA D KING RHH ISHPEKOVA B HONEYMAN K CALAFELL F SHMAROV A PETROVA J TURNEV I HRISTOVA A MOSKOV M STANCHEVA S PETKOVA I BITTLES AH GEORGIEVA V MIDDLETON L THOMAS PK
Citation: L. Kalaydjieva et al., GENE-MAPPING IN GYPSIES IDENTIFIES A NOVEL DEMYELINATING NEUROPATHY ON CHROMOSOME 8Q24, Nature genetics, 14(2), 1996, pp. 214-217

Authors: SAVOV A ANGELICHEVA D JORDANOVA A KREMENSKY I KALAYDJIEVA L
Citation: A. Savov et al., 2176INSC - A NOVEL MUTATION IN EXON-13 OF THE CYSTIC-FIBROSIS GENE, Human heredity, 46(3), 1996, pp. 166-167

Authors: VARON R STUHRMANN M MACEK M KUFARDJIEVA A ANGELICHEVA D MAGDORF K JORDANOVA A SAVOV A WAHN U MACEK M LALOV V IVANOVA T ELLEMUNTER H VAVROVA V FERAK V KAYSEROVA H REIS A KALAYDJIEVA L
Citation: R. Varon et al., PANCREATIC INSUFFICIENCY AND PULMONARY-DISEASE IN GERMAN AND SLAVIC CYSTIC-FIBROSIS PATIENTS WITH THE R347P MUTATION, Human mutation, 6(3), 1995, pp. 219-225

Authors: SAVOV A ANGELICHEVA D BALASSOPOULOU A JORDANOVA A NOUSSIAARVANITAKIS S KALAYDJIEVA L
Citation: A. Savov et al., DOUBLE MUTANT ALLELES - ARE THEY RARE, Human molecular genetics, 4(7), 1995, pp. 1169-1171

Authors: ANGELICHEVA D BOTEVA K JORDANOVA A SAVOV A KUFARDJIEVA A TOLUN A TELATAR M AKARSUBASI A KOPRUBASI F AYDOGDU S DEMIRKOL M KURDOGLU G CONSTANTINOUDELTAS CD GEORGIOU C DEAN M IVASCHENKO T BARANOV V KALAYDJIEVA L
Citation: D. Angelicheva et al., CYSTIC-FIBROSIS PATIENTS FROM THE BLACK-SEA REGION - THE 1677DELTA MUTATION, Human mutation, 3(4), 1994, pp. 353-357

Authors: SAVOV A MERCIER B KALAYDJIEVA L FEREC C
Citation: A. Savov et al., IDENTIFICATION OF 6 NOVEL MUTATIONS IN THE CFTR GENE OF PATIENTS FROMBULGARIA BY SCREENING THE 27 EXONS AND EXON INTRON BOUNDARIES USING DGGE AND DIRECT SEQUENCING (VOL 3, PG 57, 1994)/, Human molecular genetics, 3(6), 1994, pp. 1034-1034

Authors: SAVOV A JORDANOVA A GAVRILOV D ANGELICHEVA D KALAYDJIEVA L
Citation: A. Savov et al., G1244V - A NOVEL MISSENSE MUTATION IN EXON-20 OF THE CFTR GENE IN A BULGARIAN CYSTIC-FIBROSIS PATIENT, Human molecular genetics, 3(3), 1994, pp. 513-514

Authors: SAVOV A MERCIER B KALAYDJIEVA L FEREC C
Citation: A. Savov et al., IDENTIFICATION OF 6 NOVEL MUTATIONS IN THE CFTR GENE OF PATIENTS FROMBULGARIA BY SCREENING THE 27 EXONS AND EXON INTRON BOUNDARIES USING DGGE AND DIRECT DNA-SEQUENCING (VOL 3, PG 57, 1994)/, Human molecular genetics, 3(3), 1994, pp. 530-530

Authors: SAVOV A MERCIER B KALAYDJIEVA L FEREC C
Citation: A. Savov et al., IDENTIFICATION OF 6 NOVEL MUTATIONS IN THE CFTR GENE OF PATIENTS FROMBULGARIA BY SCREENING THE 27 EXONS AND EXON INTRON BOUNDARIES USING DGGE AND DIRECT DNA-SEQUENCING/, Human molecular genetics, 3(1), 1994, pp. 57-60

Authors: MERCIER B LISSENS W NOVELLI G KALAYDJIEVA L DEARCE M KAPRANOV N KLAIN NC ESTIVILL X PALACIO A CASHMAN S SAVOV A AUDREZET MP DALLAPICOLLA B LIEBAERS I QUERE I RAGUENES O VERLINGUE C FEREC C
Citation: B. Mercier et al., A CLUSTER OF CYSTIC-FIBROSIS MUTATIONS IN EXON 17B OF THE CFTR GENE -A SITE FOR RARE MUTATIONS, Journal of Medical Genetics, 31(9), 1994, pp. 731-734

Authors: VERLINGUE C AUDREZET MP SAVOV A KAPRANOV N KLAIN NC KALAYDJIEVA L MERCIER B FEREC C
Citation: C. Verlingue et al., COMPLETE SCREENING FOR CFTR GENE-MUTATIONS IN 3 SAMPLES OF CF PATIENTS FROM EASTERN-EUROPE, American journal of human genetics, 53(3), 1993, pp. 873-873
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