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Results: 1-15 |
Results: 15
EVIDENCE FOR INVOLVEMENT OF THE SIMPSON-GOLABI-BEHMEL-SYNDROME GENE, GPC3, IN THE DEVELOPMENT OF WILMS-TUMOR
Authors: VIERO S HUGHESBENZIE R DIETRICH K GRUNDY P
Citation: S. Viero et al., EVIDENCE FOR INVOLVEMENT OF THE SIMPSON-GOLABI-BEHMEL-SYNDROME GENE, GPC3, IN THE DEVELOPMENT OF WILMS-TUMOR, Modern pathology, 11(1), 1998, pp. 6-6
A PATIENT WITH SIMPSON-GOLABI-BEHMEL-SYNDROME AND HEPATOCELLULAR-CARCINOMA
Authors: LAPUNZINA P BADIA I GALOPPO C DEMATTEO E SILBERMAN P TELLO A GRICHENER J HUGHESBENZIE R
Citation: P. Lapunzina et al., A PATIENT WITH SIMPSON-GOLABI-BEHMEL-SYNDROME AND HEPATOCELLULAR-CARCINOMA, Journal of Medical Genetics, 35(2), 1998, pp. 153-156
THE ROLE OF REDUCED EAR SIZE IN THE PRENATAL DETECTION OF CHROMOSOMAL-ABNORMALITIES
Authors: SHIMIZU T SALVADOR L HUGHESBENZIE R DAWSON L NIMROD C ALLANSON J
Citation: T. Shimizu et al., THE ROLE OF REDUCED EAR SIZE IN THE PRENATAL DETECTION OF CHROMOSOMAL-ABNORMALITIES, Prenatal diagnosis, 17(6), 1997, pp. 545-549
CHARACTERISTICS OF A CANADIAN POPULATION AT RISK FOR HEREDITARY COLORECTAL-CANCER - DEMOGRAPHICS, RISK PERCEPTION, ANXIETY AND DEPRESSION LEVELS
Authors: HUGHESBENZIE R PERRAS H GRAHAM I COYLE D
Citation: R. Hughesbenzie et al., CHARACTERISTICS OF A CANADIAN POPULATION AT RISK FOR HEREDITARY COLORECTAL-CANCER - DEMOGRAPHICS, RISK PERCEPTION, ANXIETY AND DEPRESSION LEVELS, American journal of human genetics, 61(4), 1997, pp. 1088-1088
LE-FOIE-VIDE - A UNIQUE CASE OF NEONATAL LIVER-FAILURE
Authors: GILMOUR SM HUGHESBENZIE R SILVER MM ROBERTS EA
Citation: Sm. Gilmour et al., LE-FOIE-VIDE - A UNIQUE CASE OF NEONATAL LIVER-FAILURE, Journal of pediatric gastroenterology and nutrition, 23(5), 1996, pp. 618-623
CORRELATION OF SEVERITY AND OUTCOME WITH PLASMA STEROL LEVELS IN VARIANTS OF THE SMITH-LEMLI-OPITZ SYNDROME
Authors: TINT GS SALEN G BATTA AK SHEFER S IRONS M ELIAS ER ABUELO DN JOHNSON VP LAMBERT M LUTZ R SCHANEN C MORRIS CA HOGANSON G HUGHESBENZIE R
Citation: Gs. Tint et al., CORRELATION OF SEVERITY AND OUTCOME WITH PLASMA STEROL LEVELS IN VARIANTS OF THE SMITH-LEMLI-OPITZ SYNDROME, The Journal of pediatrics, 127(1), 1995, pp. 82-87
THE AICARDI-GOUTIERES SYNDROME (FAMILIAL, EARLY-ONSET ENCEPHALOPATHY WITH CALCIFICATIONS OF THE BASAL GANGLIA AND CHRONIC CEREBROSPINAL-FLUID LYMPHOCYTOSIS)
Authors: TOLMIE JL SHILLITO P HUGHESBENZIE R STEPHENSON JBP
Citation: Jl. Tolmie et al., THE AICARDI-GOUTIERES SYNDROME (FAMILIAL, EARLY-ONSET ENCEPHALOPATHY WITH CALCIFICATIONS OF THE BASAL GANGLIA AND CHRONIC CEREBROSPINAL-FLUID LYMPHOCYTOSIS), Journal of Medical Genetics, 32(11), 1995, pp. 881-884
MARKEDLY INCREASED TISSUE CONCENTRATIONS OF 7-DEHYDROCHOLESTEROL COMBINED WITH LOW-LEVELS OF CHOLESTEROL ARE CHARACTERISTIC OF THE SMITH-LEMLI-OPITZ SYNDROME
Authors: TINT GS SELLER M HUGHESBENZIE R BATTA AK SHEFER S GENEST D IRONS M ELIAS E SALEN G
Citation: Gs. Tint et al., MARKEDLY INCREASED TISSUE CONCENTRATIONS OF 7-DEHYDROCHOLESTEROL COMBINED WITH LOW-LEVELS OF CHOLESTEROL ARE CHARACTERISTIC OF THE SMITH-LEMLI-OPITZ SYNDROME, Journal of lipid research, 36(1), 1995, pp. 89-95
MOLECULAR-FEATURES OF SIMPSON-GOLABI-BEHMEL SYNDROME (SGBS) - EVIDENCE FOR LOSS OF IGF2 IMPRINTING
Authors: XUAN JY HUGHESBENZIE R MACKENZIE AE
Citation: Jy. Xuan et al., MOLECULAR-FEATURES OF SIMPSON-GOLABI-BEHMEL SYNDROME (SGBS) - EVIDENCE FOR LOSS OF IGF2 IMPRINTING, American journal of human genetics, 57(4), 1995, pp. 1347-1347
DELIVERY OF MOLECULAR-GENETIC SERVICES WITHIN A HEALTH-CARE SYSTEM - TIME ANALYSIS OF THE CLINICAL WORKLOAD
Authors: SURH LC WRIGHT PG CAPPELLI M KASABOSKI A HASTINGS VA HUNTER AG ALLANSON J HUGHESBENZIE R DAWSON L GOLDSMITH C METTLER G ZEESMAN S FORSTERGIBSON C MCLEOD P CAPPON S GIRARD K PRICE E JUNG J SELLERS L SOLTON H MOKSIU V KANE J SCANLON N SHERIDAN G FARRELL S MACDONALD K ROBERTS F MESCHINO W SUMMERS A WYATT P MACGREGOR D NEIDHARDT A ALLEN J GARDNER A MCNABB L RUSSAN L PICARD L PROULX M RIMMER M SULLIVAN K SPOONER L COSTA T HUTTON E SIEGELBARTLET J WEKSBERG R CYTRYNBAUM C FITZPATRICK J SAFFORD T SHUMAN C SUTHERLAND J
Citation: Lc. Surh et al., DELIVERY OF MOLECULAR-GENETIC SERVICES WITHIN A HEALTH-CARE SYSTEM - TIME ANALYSIS OF THE CLINICAL WORKLOAD, American journal of human genetics, 56(3), 1995, pp. 760-768
PRENATAL IDENTIFICATION OF CRIGLER-NAJJAR SYNDROME TYPE-I GENOTYPE BYANALYSIS OF CHORIONIC VILLUS SAMPLE DNA
Authors: SENGUPTA K GANTLA S BOMMINENI VR ATTAVAR P HUGHESBENZIE R BOSMA PJ CHOWDHURY JR CHOWDHURY NR
Citation: K. Sengupta et al., PRENATAL IDENTIFICATION OF CRIGLER-NAJJAR SYNDROME TYPE-I GENOTYPE BYANALYSIS OF CHORIONIC VILLUS SAMPLE DNA, Hepatology, 20(4), 1994, pp. 10000320-10000320
OCULAR FINDINGS IN ACROMESOMELIC DYSPLASIA
Authors: CLARKE WN MUNRO S BROWNSTEIN S AGAPITOS P HUGHESBENZIE R
Citation: Wn. Clarke et al., OCULAR FINDINGS IN ACROMESOMELIC DYSPLASIA, American journal of ophthalmology, 118(6), 1994, pp. 797-804
CRIGLER-NAJJAR SYNDROME TYPE-I - MANAGEMENT WITH A PHOTOTHERAPY CRIB MATTRESS
Authors: HUGHESBENZIE R UTTLEY DA HEICK HMC
Citation: R. Hughesbenzie et al., CRIGLER-NAJJAR SYNDROME TYPE-I - MANAGEMENT WITH A PHOTOTHERAPY CRIB MATTRESS, Archives of Disease in Childhood, 69(4), 1993, pp. 470-470
SIMPSON-GOLABI-BEHMEL SYNDROME - OVERGROWTH ASSOCIATED WITH EMBRYONALTUMORS AND ELEVATED AFP
Authors: HUGHESBENZIE R CHEN E NORTON M HSU E GOLABI M
Citation: R. Hughesbenzie et al., SIMPSON-GOLABI-BEHMEL SYNDROME - OVERGROWTH ASSOCIATED WITH EMBRYONALTUMORS AND ELEVATED AFP, American journal of human genetics, 53(3), 1993, pp. 455-455
MOLECULAR-GENETIC ANALYSIS OF SIMPSON-GOLABI-BEHMEL SYNDROME - AN OVERGROWTH CONDITION ASSOCIATED WITH WILMS-TUMOR
Authors: XUAN JY HUGHESBENZIE R BESNER A KANG X IKEDA JE MACKENZIE A
Citation: Jy. Xuan et al., MOLECULAR-GENETIC ANALYSIS OF SIMPSON-GOLABI-BEHMEL SYNDROME - AN OVERGROWTH CONDITION ASSOCIATED WITH WILMS-TUMOR, American journal of human genetics, 53(3), 1993, pp. 1109-1109
Risultati: 1-15 |