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Results: 1-9 |
Results: 9
MISSENSE MUTATIONS IN EXON-6 OF THE SURVIVAL MOTOR-NEURON GENE IN PATIENTS WITH SPINAL MUSCULAR-ATROPHY (SMA)
Authors: HAHNEN E SCHONLING J RUDNIKSCHONEBORN S RASCHKE H ZERRES K WIRTH B
Citation: E. Hahnen et al., MISSENSE MUTATIONS IN EXON-6 OF THE SURVIVAL MOTOR-NEURON GENE IN PATIENTS WITH SPINAL MUSCULAR-ATROPHY (SMA), Human molecular genetics, 6(5), 1997, pp. 821-825
DE-NOVO REARRANGEMENTS FOUND IN 2-PERCENT OF INDEX PATIENTS WITH SPINAL MUSCULAR-ATROPHY - MUTATIONAL MECHANISMS, PARENTAL ORIGIN, MUTATION-RATE, AND IMPLICATIONS FOR GENETIC-COUNSELING
Authors: WIRTH B SCHMIDT T HAHNEN E RUDNIKSCHONEBORN S KRAWCZAK M MULLERMYHSOK B SCHONLING J ZERRES K
Citation: B. Wirth et al., DE-NOVO REARRANGEMENTS FOUND IN 2-PERCENT OF INDEX PATIENTS WITH SPINAL MUSCULAR-ATROPHY - MUTATIONAL MECHANISMS, PARENTAL ORIGIN, MUTATION-RATE, AND IMPLICATIONS FOR GENETIC-COUNSELING, American journal of human genetics, 61(5), 1997, pp. 1102-1111
DE-NOVO REARRANGEMENTS FOUND IN 2-PERCENT INDEX PATIENTS WITH SPINAL MUSCULAR-ATROPHY - MUTATIONAL MECHANISMS, PARENTAL ORIGIN, MUTATION-RATE AND IMPLICATIONS FOR GENETIC-COUNSELING
Authors: WIRTH B SCHMIDT T HAHNEN E RUDNIKSCHONEBORN S KRAWCZAK M MULLERMYHSOK B SCHONLING J ZERRES K
Citation: B. Wirth et al., DE-NOVO REARRANGEMENTS FOUND IN 2-PERCENT INDEX PATIENTS WITH SPINAL MUSCULAR-ATROPHY - MUTATIONAL MECHANISMS, PARENTAL ORIGIN, MUTATION-RATE AND IMPLICATIONS FOR GENETIC-COUNSELING, American journal of human genetics, 61(4), 1997, pp. 2057-2057
HYBRID SURVIVAL MOTOR-NEURON GENES IN PATIENTS WITH AUTOSOMAL RECESSIVE SPINAL MUSCULAR-ATROPHY - NEW INSIGHTS INTO MOLECULAR MECHANISMS RESPONSIBLE FOR THE DISEASE
Authors: HAHNEN E SCHONLING J RUDNIKSCHONEBORN S ZERRES K WIRTH B
Citation: E. Hahnen et al., HYBRID SURVIVAL MOTOR-NEURON GENES IN PATIENTS WITH AUTOSOMAL RECESSIVE SPINAL MUSCULAR-ATROPHY - NEW INSIGHTS INTO MOLECULAR MECHANISMS RESPONSIBLE FOR THE DISEASE, American journal of human genetics, 59(5), 1996, pp. 1057-1065
MAPPING OF THE SPINAL MUSCULAR-ATROPHY (SMA) GENE TO A 750-KB INTERVAL FLANKED BY 2 NEW MICROSATELLITES
Authors: WIRTH B ELAGWANY A BAASNER A BURGHES A KOCH A DADZE A PIECHACZECKWAPPENSCHMIDT B RUDNIKSCHONEBORN S ZERRES K SCHONLING J
Citation: B. Wirth et al., MAPPING OF THE SPINAL MUSCULAR-ATROPHY (SMA) GENE TO A 750-KB INTERVAL FLANKED BY 2 NEW MICROSATELLITES, European journal of human genetics, 3(1), 1995, pp. 56-60
MOLECULAR ANALYSIS OF CANDIDATE GENES ON CHROMOSOME 5Q13 IN AUTOSOMALRECESSIVE SPINAL MUSCULAR-ATROPHY - EVIDENCE OF HOMOZYGOUS DELETIONS OF THE SMN GENE IN UNAFFECTED INDIVIDUALS
Authors: HAHNEN E FORKERT R MARKE C RUDNIKSCHONEBORN S SCHONLING J ZERRES K WIRTH B
Citation: E. Hahnen et al., MOLECULAR ANALYSIS OF CANDIDATE GENES ON CHROMOSOME 5Q13 IN AUTOSOMALRECESSIVE SPINAL MUSCULAR-ATROPHY - EVIDENCE OF HOMOZYGOUS DELETIONS OF THE SMN GENE IN UNAFFECTED INDIVIDUALS, Human molecular genetics, 4(10), 1995, pp. 1927-1933
LARGE LINKAGE ANALYSIS IN 100 FAMILIES WITH AUTOSOMAL RECESSIVE SPINAL MUSCULAR-ATROPHY (SMA) AND 11 CEPH FAMILIES USING 15 POLYMORPHIC LOCI IN THE REGION 5Q11.2-Q13.3
Authors: WIRTH B PICK E LEUTNER A DADZE A VOOSEN B KNAPP M PIECHACZEKWAPPENSCHMIDT B RUDNIKSCHONEBORN S SCHONLING J COX S SPURR NK ZERRES K
Citation: B. Wirth et al., LARGE LINKAGE ANALYSIS IN 100 FAMILIES WITH AUTOSOMAL RECESSIVE SPINAL MUSCULAR-ATROPHY (SMA) AND 11 CEPH FAMILIES USING 15 POLYMORPHIC LOCI IN THE REGION 5Q11.2-Q13.3, Genomics, 20(1), 1994, pp. 84-93
20 DIFFERENT ALLELES AT THE LOCUS D5S683 ON 5Q23-31
Authors: SCHONLING J SPURR NK WIRTH B
Citation: J. Schonling et al., 20 DIFFERENT ALLELES AT THE LOCUS D5S683 ON 5Q23-31, Human molecular genetics, 2(12), 1993, pp. 2204-2204
DINUCLEOTIDE REPEAT POLYMORPHISM AT THE D12S371 LOCUS
Authors: LEUTNER A SCHONLING J SPURR NK WIRTH B
Citation: A. Leutner et al., DINUCLEOTIDE REPEAT POLYMORPHISM AT THE D12S371 LOCUS, Human molecular genetics, 2(10), 1993, pp. 1754-1754
Risultati: 1-9 |