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Results: 1-11 |
Results: 11
3 NOVEL KCNA1 MUTATIONS IN EPISODIC ATAXIA TYPE-I FAMILIES (VOL 102, PG 464, 1998)
Authors: SCHEFFER H BRUNT ERP MOL GJJ VANDERVLIES P STULP RP VERLIND E MANTEL G AVERYANOV YN HOFSTRA RMW BUYS CHCM
Citation: H. Scheffer et al., 3 NOVEL KCNA1 MUTATIONS IN EPISODIC ATAXIA TYPE-I FAMILIES (VOL 102, PG 464, 1998), Human genetics, 102(6), 1998, pp. 713-713
3 NOVEL KCNA1 MUTATIONS IN EPISODIC ATAXIA TYPE-I FAMILIES
Authors: SCHEFFER H BRUNT ERP MOL GJJ VANDERVLIES P STULP RP VERLIND E MANTEL G AVERYANOV YN HOFSTRA RMW BUYS CHCM
Citation: H. Scheffer et al., 3 NOVEL KCNA1 MUTATIONS IN EPISODIC ATAXIA TYPE-I FAMILIES, Human genetics, 102(4), 1998, pp. 464-466
IMPLICATIONS OF INTRAGENIC MARKER HOMOZYGOSITY AND HAPLOTYPE SHARING IN A RARE AUTOSOMAL RECESSIVE DISORDER - THE EXAMPLE OF THE COLLAGEN TYPE-XVII (COL17A1) LOCUS IN GENERALIZED ATROPHIC BENIGN EPIDERMOLYSIS-BULLOSA
Authors: SCHEFFER H STULP RP VERLIND E VANDERMEULEN M BRUCKNERTUDERMAN L GEDDEDAHL T TEMEERMAN GJ SONNENBERG A BUYS CHCM JONKMAN MF
Citation: H. Scheffer et al., IMPLICATIONS OF INTRAGENIC MARKER HOMOZYGOSITY AND HAPLOTYPE SHARING IN A RARE AUTOSOMAL RECESSIVE DISORDER - THE EXAMPLE OF THE COLLAGEN TYPE-XVII (COL17A1) LOCUS IN GENERALIZED ATROPHIC BENIGN EPIDERMOLYSIS-BULLOSA, Human genetics, 100(2), 1997, pp. 230-235
IMPLICATIONS OF INTRAGENIC MARKER HOMOZYGOSITY AND HAPLOTYPE SHARING IN GENERALIZED ATROPHIC BENIGN EPIDERMOLYSIS-BULLOSA (GABEB)
Authors: SCHEFFER H STULP RP VERLIND E BRUCKNERTUDERMAN L GEDDEDAHL T TEMEERMAH GJ SONNENBERG A BUYS CHCM JONKMAN MF
Citation: H. Scheffer et al., IMPLICATIONS OF INTRAGENIC MARKER HOMOZYGOSITY AND HAPLOTYPE SHARING IN GENERALIZED ATROPHIC BENIGN EPIDERMOLYSIS-BULLOSA (GABEB), Journal of investigative dermatology, 109(3), 1997, pp. 419-419
AN INTEGRATED MAP OF HUMAN-CHROMOSOME-13 ALLOWING REGIONAL LOCALIZATION OF GENETIC-MARKERS
Authors: KOOY RF WIJNGAARD A VERLIND E SCHEFFER H BUYS CHCM
Citation: Rf. Kooy et al., AN INTEGRATED MAP OF HUMAN-CHROMOSOME-13 ALLOWING REGIONAL LOCALIZATION OF GENETIC-MARKERS, European journal of human genetics, 3(3), 1995, pp. 180-187
A YEAST ARTIFICIAL CHROMOSOME CONTIG THAT SPANS THE RB1-D13S31 INTERVAL ON HUMAN-CHROMOSOME-13 AND ENCOMPASSES THE FREQUENTLY DELETED REGION IN B-CELL CHRONIC LYMPHOCYTIC-LEUKEMIA
Authors: HAWTHORN L ROBERTS T VERLIND E KOOY RF COWELL JK
Citation: L. Hawthorn et al., A YEAST ARTIFICIAL CHROMOSOME CONTIG THAT SPANS THE RB1-D13S31 INTERVAL ON HUMAN-CHROMOSOME-13 AND ENCOMPASSES THE FREQUENTLY DELETED REGION IN B-CELL CHRONIC LYMPHOCYTIC-LEUKEMIA, Genomics, 30(3), 1995, pp. 425-430
A HIGHLY INFORMATIVE DINUCLEOTIDE REPEAT POLYMORPHISM AT D13S201, BETWEEN RB1 AND WND
Authors: KOOY RF VERLIND E WIJNGAARD A SHAPIRO DN SCHEFFER H BUYS CHCM
Citation: Rf. Kooy et al., A HIGHLY INFORMATIVE DINUCLEOTIDE REPEAT POLYMORPHISM AT D13S201, BETWEEN RB1 AND WND, Human genetics, 95(5), 1995, pp. 589-589
A DELETION HYBRID BREAKPOINT MAP OF CHROMOSOME-13
Authors: KOOY RF WIJNGAARD A VERLIND E SCHEFFER H BUYS CHCM
Citation: Rf. Kooy et al., A DELETION HYBRID BREAKPOINT MAP OF CHROMOSOME-13, Cytogenetics and cell genetics, 70(1-2), 1995, pp. 19-19
A GENETIC-LINKAGE MAP OF CHROMOSOME 13Q
Authors: SCHEFFER H KOOY RF WIJNGAARD A VERLIND E VERGNAUD G BUYS CHCM
Citation: H. Scheffer et al., A GENETIC-LINKAGE MAP OF CHROMOSOME 13Q, Cytogenetics and cell genetics, 70(1-2), 1995, pp. 21-21
DELIMITATION OF THE REGION FOR THE LONG QT SYNDROME LOCUS (LQT1) ON 11P
Authors: VANDERHOUT AH VERLIND E TANSINDHUNATA MB VIERSMA JA SCHEFFER H BUYS CHCM
Citation: Ah. Vanderhout et al., DELIMITATION OF THE REGION FOR THE LONG QT SYNDROME LOCUS (LQT1) ON 11P, American journal of human genetics, 57(4), 1995, pp. 1900-1900
A DELETION HYBRID BREAKPOINT MAP OF THE CHROMOSOMAL REGION 13Q14-Q21 ORDERS GENETIC-MARKERS AROUND THE WILSON DISEASE LOCUS
Authors: KOOY RF VERLIND E SHAPIRO DN COWELL JK SCHEFFER H BUYS CHCM
Citation: Rf. Kooy et al., A DELETION HYBRID BREAKPOINT MAP OF THE CHROMOSOMAL REGION 13Q14-Q21 ORDERS GENETIC-MARKERS AROUND THE WILSON DISEASE LOCUS, American journal of human genetics, 53(3), 1993, pp. 1313-1313
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