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MOLECULAR-GENETIC ANALYSIS OF THE 3P--SYNDROME
Authors: PHIPPS ME LATIF F PROWSE A PAYNE SJ DIETZBAND J LEVERSHA M AFFARA NA MOORE AT TOLMIE J SCHINZEL A LERMAN MI FERGUSONSMITH MA MAHER ER
Citation: Me. Phipps et al., MOLECULAR-GENETIC ANALYSIS OF THE 3P--SYNDROME, Human molecular genetics, 3(6), 1994, pp. 903-908
A GENE FOR HEREDITARY MULTIPLE EXOSTOSES MAPS TO CHROMOSOME 19P
Authors: LEMERRER M LEGEAIMALLET L JEANNIN PM HORSTHEMKE B SCHINZEL A PLAUCHU H TOUTAIN A ACHARD F MUNNICH A MAROTEAUX P
Citation: M. Lemerrer et al., A GENE FOR HEREDITARY MULTIPLE EXOSTOSES MAPS TO CHROMOSOME 19P, Human molecular genetics, 3(5), 1994, pp. 717-722
ECTODERMAL DYSPLASIA WITH CORKSCREW HAIRS OBSERVATION OF PROBABLE AUTOSOMAL-DOMINANT TRICHO-ODONTO-ONYCHODYSPLASIA WITH SYNDACTYLY
Authors: TRUEB R BURG G BOTTANI A SCHINZEL A
Citation: R. Trueb et al., ECTODERMAL DYSPLASIA WITH CORKSCREW HAIRS OBSERVATION OF PROBABLE AUTOSOMAL-DOMINANT TRICHO-ODONTO-ONYCHODYSPLASIA WITH SYNDACTYLY, Journal of the American Academy of Dermatology, 30(2), 1994, pp. 289-290
6 CASES OF 7P DELETION - CLINICAL, CYTOGENETIC, AND MOLECULAR STUDIES
Authors: CHOTAI KA BRUETON LA VANHERWERDEN L GARRETT C HINKEL GK SCHINZEL A MUELLER RF SPELEMAN F WINTER RM
Citation: Ka. Chotai et al., 6 CASES OF 7P DELETION - CLINICAL, CYTOGENETIC, AND MOLECULAR STUDIES, American journal of medical genetics, 51(3), 1994, pp. 270-276
ANGELMAN SYNDROME DUE TO PATERNAL UNIPARENTAL DISOMY OF CHROMOSOME-15- A MILDER PHENOTYPE
Authors: BOTTANI A ROBINSON WP DELOZIERBLANCHET CD ENGEL E MORRIS MA SCHMITT B THUNHOHENSTEIN L SCHINZEL A
Citation: A. Bottani et al., ANGELMAN SYNDROME DUE TO PATERNAL UNIPARENTAL DISOMY OF CHROMOSOME-15- A MILDER PHENOTYPE, American journal of medical genetics, 51(1), 1994, pp. 35-40
MULTIPLE ORIGINS OF X-CHROMOSOME TETRASOMY
Authors: ROBINSON W BINKERT F SCHINZEL A BASARAN S MIKELSAAR R
Citation: W. Robinson et al., MULTIPLE ORIGINS OF X-CHROMOSOME TETRASOMY, Journal of Medical Genetics, 31(5), 1994, pp. 424-425
A MULTICENTER STUDY ON GENOTYPE-PHENOTYPE CORRELATIONS IN THE FRAGILE-X-SYNDROME, USING DIRECT DIAGNOSIS WITH PROBE STB-12.3 - THE FIRST 2,253 CASES
Authors: ROUSSEAU F HEITZ D TARLETON J MACPHERSON J MALMGREN H DAHL N BARNICOAT A MATHEW C MORNET E TEJADA I MADDALENA A SPIEGEL R SCHINZEL A MARCOS JAG SCHORDERET DF SCHAAP T MACCIONI L RUSSO S JACOBS PA SCHWARTZ C MANDEL JL
Citation: F. Rousseau et al., A MULTICENTER STUDY ON GENOTYPE-PHENOTYPE CORRELATIONS IN THE FRAGILE-X-SYNDROME, USING DIRECT DIAGNOSIS WITH PROBE STB-12.3 - THE FIRST 2,253 CASES, American journal of human genetics, 55(2), 1994, pp. 225-237
MODIFICATION OF 15Q11-Q13 DNA METHYLATION IMPRINTS IN UNIQUE ANGELMANAND PRADER-WILLI PATIENTS
Authors: GLENN CC NICHOLLS RD ROBINSON WP SAITOH S NIIKAWA N SCHINZEL A HORSTHEMKE B DRISCOLL DJ
Citation: Cc. Glenn et al., MODIFICATION OF 15Q11-Q13 DNA METHYLATION IMPRINTS IN UNIQUE ANGELMANAND PRADER-WILLI PATIENTS, Human molecular genetics, 2(9), 1993, pp. 1377-1382
IDURONATE-2-SULFATASE GENE-MUTATIONS IN 16 PATIENTS WITH MUCOPOLYSACCHARIDOSIS TYPE-II (HUNTER SYNDROME)
Authors: BUNGE S STEGLICH C ZUTHER C BECK M MORRIS CP SCHWINGER E SCHINZEL A HOPWOOD JJ GAL A
Citation: S. Bunge et al., IDURONATE-2-SULFATASE GENE-MUTATIONS IN 16 PATIENTS WITH MUCOPOLYSACCHARIDOSIS TYPE-II (HUNTER SYNDROME), Human molecular genetics, 2(11), 1993, pp. 1871-1875
MOLECULAR ANALYSIS AND GENETIC-MAPPING OF THE RHODOPSIN GENE IN FAMILIES WITH AUTOSOMAL-DOMINANT RETINITIS-PIGMENTOSA
Authors: BUNGE S WEDEMANN H DAVID D TERWILLIGER DJ VANDENBORN LI AULEHLASCHOLZ C SAMANNS C HORN M OTT J SCHWINGER E SCHINZEL A DENTON MJ GAL A
Citation: S. Bunge et al., MOLECULAR ANALYSIS AND GENETIC-MAPPING OF THE RHODOPSIN GENE IN FAMILIES WITH AUTOSOMAL-DOMINANT RETINITIS-PIGMENTOSA, Genomics, 17(1), 1993, pp. 230-233
GENOMIC IMPRINTING - CONSEQUENCES OF UNIPARENTAL DISOMY FOR HUMAN-DISEASE
Authors: SCHINZEL A
Citation: A. Schinzel, GENOMIC IMPRINTING - CONSEQUENCES OF UNIPARENTAL DISOMY FOR HUMAN-DISEASE, American journal of medical genetics, 46(6), 1993, pp. 683-684
TRISOMY-8 AND TRISOMY-9 ARE DISTINCTLY DIFFERENT CLINICAL ENTITIES
Authors: SCHINZEL A
Citation: A. Schinzel, TRISOMY-8 AND TRISOMY-9 ARE DISTINCTLY DIFFERENT CLINICAL ENTITIES, American journal of medical genetics, 46(5), 1993, pp. 603-604
AN EXTENSION OF THE THEOREM ON PRIMITIVE DIVISORS IN ALGEBRAIC NUMBER-FIELDS
Authors: SCHINZEL A
Citation: A. Schinzel, AN EXTENSION OF THE THEOREM ON PRIMITIVE DIVISORS IN ALGEBRAIC NUMBER-FIELDS, Mathematics of computation, 61(203), 1993, pp. 441-444
A COLLABORATIVE MULTICENTER STUDY OF DIRECT DIAGNOSIS OF THE FRAGILE-X SYNDROME WITH PROBE STB12.3 - THE 1ST 2253 CASES
Authors: ROUSSEAU F HEITZ D TARLETON J MACPHERSON J PETTERSON U MATHEW C MORNET E MADDALENA A SCHINZEL A MARCOS JAG SCHORDERET DF SCHAAP T MACCIONI L RUSSO S JACOBS PA SCHWARTZ C MANDEL JL
Citation: F. Rousseau et al., A COLLABORATIVE MULTICENTER STUDY OF DIRECT DIAGNOSIS OF THE FRAGILE-X SYNDROME WITH PROBE STB12.3 - THE 1ST 2253 CASES, American journal of human genetics, 53(3), 1993, pp. 78-78
UNDERSTANDING THE MECHANISM(S) OF MOSAIC TRISOMY-21 USING DNA POLYMORPHISM ANALYSIS
Authors: PANGALOS C AVRAMOPOULOS D BLOUIN JL RAOUL O DEBLOIS MC PRIEUR M SCHINZEL A GIKA M ABAZIS D ANTONARAKIS SE
Citation: C. Pangalos et al., UNDERSTANDING THE MECHANISM(S) OF MOSAIC TRISOMY-21 USING DNA POLYMORPHISM ANALYSIS, American journal of human genetics, 53(3), 1993, pp. 253-253
THE USE OF AUTOMATED LINKAGE ANALYSIS IN GENETIC-MAPPING OF AUTOSOMALRECESSIVE RETINITIS-PIGMENTOSA (ARRP) AND BARDET-BIEDL (BB) SYNDROME GENES
Authors: WRIGHT AF MANSFIELD DC GREEN DK MOONEY K BROWN A FOSSARELLO M JAY M JEFFERY S PATTON MA TOMMERUP N RIISE R SCHINZEL A EVANS HJ
Citation: Af. Wright et al., THE USE OF AUTOMATED LINKAGE ANALYSIS IN GENETIC-MAPPING OF AUTOSOMALRECESSIVE RETINITIS-PIGMENTOSA (ARRP) AND BARDET-BIEDL (BB) SYNDROME GENES, American journal of human genetics, 53(3), 1993, pp. 1106-1106
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