AAAAAA

   
Results: 1-18 |
Results: 18
3 PATIENTS WITH THE OSTEOCHONDRODYSPLASIA AND HYPERTRICHOSIS SYNDROME- CANTU-SYNDROME
Authors: ROSSER EM KAARIAINEN H HURST JA BARAITSER M HALL CM CLAYTON P LEONARD JV
Citation: Em. Rosser et al., 3 PATIENTS WITH THE OSTEOCHONDRODYSPLASIA AND HYPERTRICHOSIS SYNDROME- CANTU-SYNDROME, Clinical dysmorphology, 7(2), 1998, pp. 79-85
PRESENTATION OF COLONIC-CARCINOMA VIA GENETIC TESTING IN THE OFFSPRING
Authors: HUANG A HOMBREY E HURST JA TWEEDIE JH
Citation: A. Huang et al., PRESENTATION OF COLONIC-CARCINOMA VIA GENETIC TESTING IN THE OFFSPRING, Journal of the Royal Society of Medicine, 91(2), 1998, pp. 91-92
ACTH RECEPTOR MUTATION IN A GIRL WITH FAMILIAL GLUCOCORTICOID DEFICIENCY
Authors: SLAVOTINEK AM HURST JA DUNGER D WILKIE AOM
Citation: Am. Slavotinek et al., ACTH RECEPTOR MUTATION IN A GIRL WITH FAMILIAL GLUCOCORTICOID DEFICIENCY, Clinical genetics, 53(1), 1998, pp. 57-62
CONGENITAL LEPTIN DEFICIENCY IS ASSOCIATED WITH SEVERE EARLY-ONSET OBESITY IN HUMANS
Authors: MONTAGUE CT FAROOQI IS WHITEHEAD JP SOOS MA RAU H WAREHAM NJ SEWTER CP DIGBY JE MOHAMMED SN HURST JA CHEETHAM CH EARLEY AR BARNETT AH PRINS JB ORAHILLY S
Citation: Ct. Montague et al., CONGENITAL LEPTIN DEFICIENCY IS ASSOCIATED WITH SEVERE EARLY-ONSET OBESITY IN HUMANS, Nature, 387(6636), 1997, pp. 903-908
LARGE-SCALE DELETIONS IN THE GPC3 GENE MAY ACCOUNT FOR A MINORITY OF CASES OF SIMPSON-GOLABI-BEHMEL-SYNDROME
Authors: LINDSAY S IRELAND M OBRIEN O CLAYTONSMITH J HURST JA MANN J COLE T SAMPSON J SLANEY S SCHLESSINGER D BURN J PILIA G
Citation: S. Lindsay et al., LARGE-SCALE DELETIONS IN THE GPC3 GENE MAY ACCOUNT FOR A MINORITY OF CASES OF SIMPSON-GOLABI-BEHMEL-SYNDROME, Journal of Medical Genetics, 34(6), 1997, pp. 480-483
SPECTRUM OF CLINICAL-FEATURES ASSOCIATED WITH INTERSTITIAL CHROMOSOME22Q11 DELETIONS - A EUROPEAN COLLABORATIVE STUDY
Authors: RYAN AK GOODSHIP JA WILSON DI PHILIP N LEVY A SEIDEL H SCHUFFENHAUER S OECHSLER H BELOHRADSKY B PRIEUR M AURIAS A RAYMOND FL CLAYTONSMITH J HATCHWELL E MCKEOWN C BEEMER FA DALLAPICCOLA B NOVELLI G HURST JA IGNATIUS J GREEN AJ WINTER RM BRUETON L BRONDUMNIELSEN K STEWART F VANESSEN T PATTON M PATERSON J SCAMBLER PJ
Citation: Ak. Ryan et al., SPECTRUM OF CLINICAL-FEATURES ASSOCIATED WITH INTERSTITIAL CHROMOSOME22Q11 DELETIONS - A EUROPEAN COLLABORATIVE STUDY, Journal of Medical Genetics, 34(10), 1997, pp. 798-804
3 INFANTS OF DIABETIC MOTHERS WITH MALFORMATIONS OF LEFT-RIGHT ASYMMETRY - FURTHER EVIDENCE FOR THE ETIOLOGIC ROLE OF DIABETES IN THIS MALFORMATION SPECTRUM
Authors: SLAVOTINEK A HELLEN E GOULD S COGHILL SB HUSON SM HURST JA
Citation: A. Slavotinek et al., 3 INFANTS OF DIABETIC MOTHERS WITH MALFORMATIONS OF LEFT-RIGHT ASYMMETRY - FURTHER EVIDENCE FOR THE ETIOLOGIC ROLE OF DIABETES IN THIS MALFORMATION SPECTRUM, Clinical dysmorphology, 5(3), 1996, pp. 241-247
SIMPSON-GOLABI-BEHMEL SYNDROME - GENOTYPE PHENOTYPE ANALYSIS OF 18 AFFECTED MALES FROM 7 UNRELATED FAMILIES/
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
CATARACTS, MOTOR SYSTEM DISORDER, SHORT STATURE, LEARNING-DIFFICULTIES, AND SKELETAL ABNORMALITIES - A NEW SYNDROME
Authors: SLAVOTINEK AM PIKE M MILLS K HURST JA
Citation: Am. Slavotinek et al., CATARACTS, MOTOR SYSTEM DISORDER, SHORT STATURE, LEARNING-DIFFICULTIES, AND SKELETAL ABNORMALITIES - A NEW SYNDROME, American journal of medical genetics, 62(1), 1996, pp. 42-47
CANCER FAMILIES - WHAT RISKS ARE THEY GIVEN AND DO THE RISKS AFFECT MANAGEMENT
Authors: ROSSER EM HURST JA CHAPMAN CJ
Citation: Em. Rosser et al., CANCER FAMILIES - WHAT RISKS ARE THEY GIVEN AND DO THE RISKS AFFECT MANAGEMENT, Journal of Medical Genetics, 33(12), 1996, pp. 977-980
DETERMINATION OF SOLUBLE CHROMIUM(VI) IN CHROMIUM PLATING MIST BY X-RAY SPECTROMETRY
Authors: HURST JA
Citation: Ja. Hurst, DETERMINATION OF SOLUBLE CHROMIUM(VI) IN CHROMIUM PLATING MIST BY X-RAY SPECTROMETRY, Analytica chimica acta, 334(3), 1996, pp. 331-336
DIFFERENTIAL-EFFECTS OF FGFR2 MUTATIONS ON SYNDACTYLY AND CLEFT-PALATE IN APERT SYNDROME
Authors: SLANEY SF OLDRIDGE M HURST JA MORRISSKAY GM HALL CM POOLE MD WILKIE AOM
Citation: Sf. Slaney et al., DIFFERENTIAL-EFFECTS OF FGFR2 MUTATIONS ON SYNDACTYLY AND CLEFT-PALATE IN APERT SYNDROME, American journal of human genetics, 58(5), 1996, pp. 923-932
GELEOPHYSIC DYSPLASIA - A REPORT OF 3 AFFECTED BOYS - PRENATAL ULTRASOUND DOES NOT DETECT RECURRENCE
Authors: ROSSER EM WILKINSON AR HURST JA MCGAUGHRAN JM DONNAI D
Citation: Em. Rosser et al., GELEOPHYSIC DYSPLASIA - A REPORT OF 3 AFFECTED BOYS - PRENATAL ULTRASOUND DOES NOT DETECT RECURRENCE, American journal of medical genetics, 58(3), 1995, pp. 217-221
CANCER FAMILIES - WHAT RISKS ARE THEY GIVEN AND DO THE RISKS AFFECT MANAGEMENT
Authors: ROSSER EM HURST JA CHAPMAN C
Citation: Em. Rosser et al., CANCER FAMILIES - WHAT RISKS ARE THEY GIVEN AND DO THE RISKS AFFECT MANAGEMENT, Journal of Medical Genetics, 32(2), 1995, pp. 139-139
DUANES RETRACTION SYNDROME-ASSOCIATED WITH CHROMOSOME 4Q27-31 SEGMENTDELETION
Authors: CHEW CKS FOSTER P HURST JA SALMON JF
Citation: Cks. Chew et al., DUANES RETRACTION SYNDROME-ASSOCIATED WITH CHROMOSOME 4Q27-31 SEGMENTDELETION, American journal of ophthalmology, 119(6), 1995, pp. 807-809
APERT-SYNDROME - PHENOTYPE GENOTYPE CORRELATION FOR 2 COMMON MUTATIONS IN FGFR2
Authors: WILKIE AOM SLANEY SF OLDRIDGE M HURST JA POOLE MD
Citation: Aom. Wilkie et al., APERT-SYNDROME - PHENOTYPE GENOTYPE CORRELATION FOR 2 COMMON MUTATIONS IN FGFR2, American journal of human genetics, 57(4), 1995, pp. 786-786
PRENATAL-DIAGNOSIS OF SIMPSON-GOLABI-BEHMEL SYNDROME - IDENTIFICATIONOF AN INFORMATIVE AT REPEAT SEQUENCE IN THE CRITICAL SGBS REGION
Authors: HUGHESBENZIE RM XUAN JY HURST JA PILIA G SCHLESSINGER D MACKENZIE AE
Citation: Rm. Hughesbenzie et al., PRENATAL-DIAGNOSIS OF SIMPSON-GOLABI-BEHMEL SYNDROME - IDENTIFICATIONOF AN INFORMATIVE AT REPEAT SEQUENCE IN THE CRITICAL SGBS REGION, American journal of human genetics, 57(4), 1995, pp. 1634-1634
AN IMPROVED X-RAY SPECTROMETRIC METHOD FOR THE DETERMINATION OF BROMIDE IN WHOLE-BLOOD OF WORKERS OCCUPATIONALLY EXPOSED TO METHYL-BROMIDE
Authors: HURST JA TONKS CE GEYER R
Citation: Ja. Hurst et al., AN IMPROVED X-RAY SPECTROMETRIC METHOD FOR THE DETERMINATION OF BROMIDE IN WHOLE-BLOOD OF WORKERS OCCUPATIONALLY EXPOSED TO METHYL-BROMIDE, Journal of analytical toxicology, 18(3), 1994, pp. 147-149
Risultati: 1-18 |