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Results: 1-8 |
Results: 8
MUTATIONS IN THE TSC2 GENE - ANALYSIS OF THE COMPLETE CODING SEQUENCEUSING THE PROTEIN TRUNCATION TEST (PTT)
Authors: VANBAKEL I SEPP T WARD S YATES JRW GREEN AJ
Citation: I. Vanbakel et al., MUTATIONS IN THE TSC2 GENE - ANALYSIS OF THE COMPLETE CODING SEQUENCEUSING THE PROTEIN TRUNCATION TEST (PTT), Human molecular genetics, 6(9), 1997, pp. 1409-1414
FEMALE GERMLINE MOSAICISM IN TUBEROUS SCLEROSIS CONFIRMED BY MOLECULAR-GENETIC ANALYSIS
Authors: YATES JRW VANBAKEL I SEPP T PAYNE SJ WEBB DW NEVIN NC GREEN AJ
Citation: Jrw. Yates et al., FEMALE GERMLINE MOSAICISM IN TUBEROUS SCLEROSIS CONFIRMED BY MOLECULAR-GENETIC ANALYSIS, Human molecular genetics, 6(13), 1997, pp. 2265-2269
AN ECORV POLYMORPHISM IN EXON-40 OF THE TUBEROUS SCLEROSIS-2 (TSC2) GENE
Authors: VANBAKEL I SEPP T YATES JRW GREEN AJ
Citation: I. Vanbakel et al., AN ECORV POLYMORPHISM IN EXON-40 OF THE TUBEROUS SCLEROSIS-2 (TSC2) GENE, Molecular and cellular probes, 11(1), 1997, pp. 75-76
AN INTRAGENIC POLYMORPHISM IN THE TUBEROUS-SCLEROSIS-2 (TSC2) GENE DETECTED BY RESTRICTION-ENDONUCLEASE FINGERPRINTING
Authors: VANBAKEL I SEPP T YATES JRW GREEN AJ
Citation: I. Vanbakel et al., AN INTRAGENIC POLYMORPHISM IN THE TUBEROUS-SCLEROSIS-2 (TSC2) GENE DETECTED BY RESTRICTION-ENDONUCLEASE FINGERPRINTING, Cytogenetics and cell genetics, 72(4), 1996, pp. 22-22
MUSCLE X-INACTIVATION PATTERNS AND DYSTROPHIN EXPRESSION IN DUCHENNE MUSCULAR-DYSTROPHY CARRIERS
Authors: MATTHEWS PM BENJAMIN D VANBAKEL I SQUIER MV NICHOLSON LVB SEWRY C BARNES PRJ HOPKIN J BROWN R HILTONJONES D BOYD Y KARPATI G BROWN GK CRAIG IW
Citation: Pm. Matthews et al., MUSCLE X-INACTIVATION PATTERNS AND DYSTROPHIN EXPRESSION IN DUCHENNE MUSCULAR-DYSTROPHY CARRIERS, Neuromuscular disorders, 5(3), 1995, pp. 209-220
CLONING AND CHARACTERIZATION OF CLCN5, THE HUMAN KIDNEY CHLORIDE CHANNEL GENE IMPLICATED IN DENT DISEASE (AN X-LINKED HEREDITARY NEPHROLITHIASIS)
Authors: FISHER SE VANBAKEL I LLOYD SE PEARCE SHS THAKKER RV CRAIG IW
Citation: Se. Fisher et al., CLONING AND CHARACTERIZATION OF CLCN5, THE HUMAN KIDNEY CHLORIDE CHANNEL GENE IMPLICATED IN DENT DISEASE (AN X-LINKED HEREDITARY NEPHROLITHIASIS), Genomics, 29(3), 1995, pp. 598-606
SEQUENCE-ANALYSIS OF THE BREAKPOINT REGIONS OF AN X-5 TRANSLOCATION IN A FEMALE WITH DUCHENNE MUSCULAR-DYSTROPHY
Authors: VANBAKEL I HOLT S CRAIG I BOYD Y
Citation: I. Vanbakel et al., SEQUENCE-ANALYSIS OF THE BREAKPOINT REGIONS OF AN X-5 TRANSLOCATION IN A FEMALE WITH DUCHENNE MUSCULAR-DYSTROPHY, American journal of human genetics, 57(2), 1995, pp. 329-336
ESTIMATION OF DYSTROPHIN DIFFUSION DISTANCE IN MUSCLE OF DMD CARRIERS
Authors: MATTHEWS PM BENJAMIN D VANBAKEL I BOYD Y CRAIG I
Citation: Pm. Matthews et al., ESTIMATION OF DYSTROPHIN DIFFUSION DISTANCE IN MUSCLE OF DMD CARRIERS, Neurology, 44(4), 1994, pp. 10000229-10000229
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