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Results: 1-25/28
Authors:
CAMERON FM
CAMERON AD
CRAMPIN L
TOLMIE JL
WILKINSON AG
DONALDSON MDC
Citation: Fm. Cameron et al., 2 SISTERS WITH PRENATAL GROWTH FAILURE, DISPROPORTIONATE SHORT STATURE, AND FEEDING DIFFICULTIES, Clinical dysmorphology, 7(4), 1998, pp. 269-274
Authors:
CROW YJ
TOLMIE JL
Citation: Yj. Crow et Jl. Tolmie, RECURRENCE RISKS IN MENTAL-RETARDATION, Journal of Medical Genetics, 35(3), 1998, pp. 177-182
Authors:
GHAFFARI SR
BOYD E
TOLMIE JL
CROW YJ
TRAINER AH
CONNER JM
Citation: Sr. Ghaffari et al., A NEW STRATEGY FOR CRYPTIC TELOMERIC TRANSLOCATION SCREENING IN PATIENTS WITH IDIOPATHIC MENTAL-RETARDATION, Journal of Medical Genetics, 35(3), 1998, pp. 225-233
Authors:
CROW YJ
ZUBERI SM
MCWILLIAM R
TOLMIE JL
HOLLMAN A
POHL K
STEPHENSON JBP
Citation: Yj. Crow et al., CATAPLEXY AND MUSCLE ULTRASOUND ABNORMALITIES IN COFFIN-LOWRY-SYNDROME, Journal of Medical Genetics, 35(2), 1998, pp. 94-98
Authors:
GHAFFARI SR
BOYD E
CONNOR JM
JONES AM
TOLMIE JL
Citation: Sr. Ghaffari et al., MOSAIC SUPERNUMERARY RING CHROMOSOME-19 IDENTIFIED BY COMPARATIVE GENOMIC HYBRIDIZATION, Journal of Medical Genetics, 35(10), 1998, pp. 836-840
Authors:
CROW YJ
TOLMIE JL
RIPPARD K
NAIRN L
WILKINSON AG
TURNER T
Citation: Yj. Crow et al., SPONDYLOCOSTAL DYSOSTOSIS ASSOCIATED WITH A 46,XX,-15)(Q25-Q11.2) TRANSLOCATION(15,DIC(6), Clinical dysmorphology, 6(4), 1997, pp. 347-350
Authors:
RENNIE AC
STEWART G
WHITEFORD M
JOHNSTON T
TOLMIE JL
Citation: Ac. Rennie et al., EXPECT THE WORSE OR HOPE FOR THE BEST - PRENATAL-DIAGNOSIS OF GELEOPHYSIC DYSPLASIA, Prenatal diagnosis, 17(11), 1997, pp. 1067-1070
Authors:
CROW YJ
TOLMIE JL
CROSSLEY JA
AITKEN DA
Citation: Yj. Crow et al., MATERNAL SERUM ALPHA-FETOPROTEIN LEVELS IN CONGENITAL NEPHROSIS, Prenatal diagnosis, 17(11), 1997, pp. 1089-1089
Authors:
CROW YJ
TOLMIE JL
HOWATSON AG
PATRICK WJA
STEPHENSON JBP
Citation: Yj. Crow et al., BATTEN-DISEASE IN THE WEST OF SCOTLAND 1974-1995 INCLUDING 5 CASES OFTHE JUVENILE FORM WITH GRANULAR OSMIOPHILIC DEPOSITS, Neuropediatrics, 28(3), 1997, pp. 140-144
Authors:
WHITEFORD ML
NARENDRA A
WHITE MP
COOKE A
WILKINSON AG
ROBERTSON KJ
TOLMIE JL
Citation: Ml. Whiteford et al., PATERNAL UNIPARENTAL DISOMY FOR CHROMOSOME-6 CAUSES TRANSIENT NEONATAL DIABETES, Journal of Medical Genetics, 34(2), 1997, pp. 167-168
Authors:
TOLMIE JL
DAY R
FREDERICKS B
GALEA P
MOFFETT AWG
Citation: Jl. Tolmie et al., DOMINANTLY INHERITED CEREBRAL DYSPLASIA - ARACHNOID CYST ASSOCIATED WITH MILD MENTAL HANDICAP IN A MOTHER AND HER SON, Journal of Medical Genetics, 34(12), 1997, pp. 1018-1020
Authors:
CROW Y
TOLMIE JL
Citation: Y. Crow et Jl. Tolmie, MENTAL-RETARDATION RECURRENCE RISKS - WHAT THE PAPERS SAY, Journal of Medical Genetics, 34, 1997, pp. 68-68
Authors:
GHAFFARI SR
BOYD E
TOLMIE JL
CONNOR JM
Citation: Sr. Ghaffari et al., COMPARATIVE GENOMIC HYBRIDIZATION REVEALS THE ORIGIN OF A MOSAIC, SUPERNUMERARY RING CHROMOSOME-19 IN A 70-YEAR-OLD LADY WITH MENTAL-RETARDATION, Journal of Medical Genetics, 34, 1997, pp. 1207-1207
Authors:
DUNDAR M
DEMIRYILMAZ F
DEMIRYILMAZ I
KUMANDAS S
ERKILIC K
KENDIRCI M
TUNCEL M
OZYAZGAN I
TOLMIE JL
Citation: M. Dundar et al., AN AUTOSOMAL RECESSIVE ADDUCTED THUMB CLUB FOOT SYNDROME OBSERVED IN TURKISH COUSINS, Clinical genetics, 51(1), 1997, pp. 61-64
Authors:
CLARK BJ
LEE WR
DOYLE D
ARNGRIMSSON R
TOLMIE JL
STEPHENSON JBP
Citation: Bj. Clark et al., A NOVEL PATTERN OF OCULOCEREBRAL MALFORMATION, British journal of ophthalmology, 81(6), 1997, pp. 470-475
Authors:
HUGHESBENZIE RM
PILIA G
XUAN JY
HUNTER AGW
CHEN E
GOLABI M
HURST JA
KOBORI J
MARYMEE K
PAGON RA
PUNNETT HH
SCHELLEY S
TOLMIE JL
WOHLFERD MM
GROSSMAN T
SCHLESSINGER D
MACKENZIE AE
Citation: Rm. Hughesbenzie et al., SIMPSON-GOLABI-BEHMEL SYNDROME - GENOTYPE PHENOTYPE ANALYSIS OF 18 AFFECTED MALES FROM 7 UNRELATED FAMILIES/, American journal of medical genetics, 66(2), 1996, pp. 227-234
Authors:
AHMED MAS
REID E
COOKE A
ARNGRIMSSON R
TOLMIE JL
STEPHENSON JBP
Citation: Mas. Ahmed et al., FAMILIAL HEMIPLEGIC MIGRAINE IN THE WEST OF SCOTLAND - A CLINICAL ANDGENETIC-STUDY OF 7 FAMILIES, Journal of Neurology, Neurosurgery and Psychiatry, 61(6), 1996, pp. 616-620
Authors:
WHITEFORD ML
TOLMIE JL
Citation: Ml. Whiteford et Jl. Tolmie, HOLOPROSENCEPHALY IN THE WEST OF SCOTLAND 1975-1994, Journal of Medical Genetics, 33(7), 1996, pp. 578-584
Authors:
REID E
MORRISON N
BARREN L
BOYD E
COOKE A
FIELDING D
TOLMIE JL
Citation: E. Reid et al., FAMILIAL WOLF-HIRSCHHORN SYNDROME RESULTING FROM A CRYPTIC TRANSLOCATION - A CLINICAL AND MOLECULAR STUDY, Journal of Medical Genetics, 33(3), 1996, pp. 197-202
Authors:
BREWER CM
FREDERICKS BJ
PONT JMW
STEPHENSON JBP
TOLMIE JL
Citation: Cm. Brewer et al., X-LINKED HYDROCEPHALUS MASQUERADING AS SPINA-BIFIDA AND DESTRUCTIVE PORENCEPHALY IN SUCCESSIVE GENERATIONS IN ONE FAMILY, Developmental Medicine and Child Neurology, 38(7), 1996, pp. 632-636
Authors:
BREWER CM
FREDERICKS BJ
PONT JMW
STEPHENSON JBP
TOLMIE JL
Citation: Cm. Brewer et al., X-LINKED HYDROCEPHALUS MASQUERADING AS SPINA-BIFIDA AND DESTRUCTIVE PORENCEPHALY IN SUCCESSIVE GENERATIONS IN ONE FAMILY, Developmental Medicine and Child Neurology, 38(4), 1996, pp. 359-363
Authors:
BREWER CM
MORRISON N
TOLMIE JL
Citation: Cm. Brewer et al., CLINICAL AND MOLECULAR CYTOGENETIC (FISH) DIAGNOSIS OF WILLIAMS-SYNDROME, Archives of Disease in Childhood, 74(1), 1996, pp. 59-61
Authors:
WHITEFORD ML
COUTTS J
ALROOMI L
MATHER A
LOWTHER G
COOKE A
VAUGHAN JI
MOORE GE
TOLMIE JL
Citation: Ml. Whiteford et al., UNIPARENTAL ISODISOMY FOR CHROMOSOME-16 IN A GROWTH-RETARDED INFANT WITH CONGENITAL HEART-DISEASE, Prenatal diagnosis, 15(6), 1995, pp. 579-584
Authors:
TOLMIE JL
DAVIDSON HR
MAY HM
MCINTOSH K
PATERSON JS
SMITH B
Citation: Jl. Tolmie et al., THE PRENATAL EXCLUSION TEST FOR HUNTINGTONS-DISEASE - EXPERIENCE IN THE WEST OF SCOTLAND, 1986-1993, Journal of Medical Genetics, 32(2), 1995, pp. 97-101
Authors:
BREWER CM
TOLMIE JL
Citation: Cm. Brewer et Jl. Tolmie, FETAL VALPROATE SYNDROME - FOLLOW-UP OF INFANTS DIAGNOSED AT BIRTH, Journal of Medical Genetics, 32(2), 1995, pp. 148-148