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Results: 1-11 |
Results: 11
MOLECULAR DIAGNOSIS OF SPINAL MUSCULAR-ATROPHY
Authors: STEWART H WALLACE A MCGAUGHRAN J MOUNTFORD R KINGSTON H
Citation: H. Stewart et al., MOLECULAR DIAGNOSIS OF SPINAL MUSCULAR-ATROPHY, Archives of Disease in Childhood, 78(6), 1998, pp. 531-535
MISSENSE MUTATION CLUSTERING IN THE SURVIVAL MOTOR-NEURON GENE - A ROLE FOR A CONSERVED TYROSINE AND GLYCINE-RICH REGION OF THE PROTEIN IN RNA-METABOLISM
Authors: TALBOT K PONTING CP THEODOSIOU AM RODRIGUES NR SURTEES R MOUNTFORD R DAVIES KE
Citation: K. Talbot et al., MISSENSE MUTATION CLUSTERING IN THE SURVIVAL MOTOR-NEURON GENE - A ROLE FOR A CONSERVED TYROSINE AND GLYCINE-RICH REGION OF THE PROTEIN IN RNA-METABOLISM, Human molecular genetics, 6(3), 1997, pp. 497-500
MULTIPLEXED MUTAGENICALLY-SEPARATED PCR FOR THE ROUTINE DETECTION OF COMMON CYSTIC-FIBROSIS MUTATIONS
Authors: BUTLER R MOUNTFORD R WALLACE A
Citation: R. Butler et al., MULTIPLEXED MUTAGENICALLY-SEPARATED PCR FOR THE ROUTINE DETECTION OF COMMON CYSTIC-FIBROSIS MUTATIONS, Journal of Medical Genetics, 34, 1997, pp. 9-9
A PROTOCOL FOR THE MOLECULAR-GENETIC ANALYSIS OF FRIEDREICHS-ATAXIA
Authors: MOUNTFORD R MCGILL F
Citation: R. Mountford et F. Mcgill, A PROTOCOL FOR THE MOLECULAR-GENETIC ANALYSIS OF FRIEDREICHS-ATAXIA, Journal of Medical Genetics, 34, 1997, pp. 1302-1302
HEREDITARY PANCREATITIS AND FAMILIAL PANCREATIC-CANCER
Authors: FINCH MD HOWES N ELLIS I MOUNTFORD R SUTTON R RARATY M NEOPTOLEMOS JP
Citation: Md. Finch et al., HEREDITARY PANCREATITIS AND FAMILIAL PANCREATIC-CANCER, Digestion, 58(6), 1997, pp. 564-569
A GENE (PEX) WITH HOMOLOGIES TO ENDOPEPTIDASES IS MUTATED IN PATIENTSWITH X-LINKED HYPOPHOSPHATEMIC RICKETS
Authors: FRANCIS F HENNIG S KORN B REINHARDT R DEJONG P POUSTKA A LEHRACH H ROWE PSN GOULDING JN SUMMERFIELD T MOUNTFORD R READ AP POPOWSKA E PRONICKA E DAVIES KE ORIORDAN JLH ECONS MJ NESBITT T DREZNER MK OUDET C PANNETIER S HANAUER A STROM TM MEINDL A LORENZ B CAGNOLI M MOHNIKE KL MURKEN J MEITINGER T
Citation: F. Francis et al., A GENE (PEX) WITH HOMOLOGIES TO ENDOPEPTIDASES IS MUTATED IN PATIENTSWITH X-LINKED HYPOPHOSPHATEMIC RICKETS, Nature genetics, 11(2), 1995, pp. 130-136
STRUCTURE AND WEAR-RESISTANCE OF BRUSH PLATED NICKEL
Authors: GERING J BELL T FARR JPG MOUNTFORD R RYAN J
Citation: J. Gering et al., STRUCTURE AND WEAR-RESISTANCE OF BRUSH PLATED NICKEL, Transactions of the Institute of Metal Finishing, 73, 1995, pp. 82-84
STEROID ACNE WITH ORAL PREDNISOLONE METASULPHOBENZOATE
Authors: SMITH RA MOUNTFORD R BURTON JL
Citation: Ra. Smith et al., STEROID ACNE WITH ORAL PREDNISOLONE METASULPHOBENZOATE, Clinical and experimental dermatology, 19(6), 1994, pp. 536-536
DETECTION OF POINT MUTATIONS IN THE DYSTROPHIN GENE USING SSCP ANALYSIS
Authors: CHARLESWORTH N MOUNTFORD R READ A
Citation: N. Charlesworth et al., DETECTION OF POINT MUTATIONS IN THE DYSTROPHIN GENE USING SSCP ANALYSIS, Journal of Medical Genetics, 31(2), 1994, pp. 174-174
NEW MARKERS FOR LINKAGE ANALYSIS OF X-LINKED HYPOPHOSPHATEMIC RICKETS
Authors: ROWE PSN GOULDING J READ A MOUNTFORD R HANAUER A OUDET C WHYTE MP MEIEREWERT S LEHRACH H DAVIES KE ORIORDAN JLH
Citation: Psn. Rowe et al., NEW MARKERS FOR LINKAGE ANALYSIS OF X-LINKED HYPOPHOSPHATEMIC RICKETS, Human genetics, 91(6), 1993, pp. 571-575
OCCURRENCE OF DUCHENNE DYSTROPHY IN KLINEFELTERS-SYNDROME
Authors: RAMESH V MOUNTFORD R KINGSTON HM KELSEY A NORONHA MJ CLARKE MA
Citation: V. Ramesh et al., OCCURRENCE OF DUCHENNE DYSTROPHY IN KLINEFELTERS-SYNDROME, Archives of Disease in Childhood, 69(4), 1993, pp. 453-454
Risultati: 1-11 |