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Results: 1-25 | 26-50 | 51-75 | 76-87
Results: 1-25/87
DIRECT MONITORING OF SILANE EPOXY INTERPHASE CHEMISTRY/
Authors: CONNELL ME CROSS WM SNYDER TG WINTER RM KELLAR JJ
Citation: Me. Connell et al., DIRECT MONITORING OF SILANE EPOXY INTERPHASE CHEMISTRY/, Composites. Part A, Applied science and manufacturing, 29(5-6), 1998, pp. 495-502
MUTATION AND DELETION OF THE PSEUDOAUTOSOMAL GENE SHOX CAUSE LERI-WEILL DYSCHONDROSTEOSIS
Authors: SHEARS DJ VASSAL HJ GOODMAN FR PALMER RW REARDON W SUPERTIFURGA A SCAMBLER PJ WINTER RM
Citation: Dj. Shears et al., MUTATION AND DELETION OF THE PSEUDOAUTOSOMAL GENE SHOX CAUSE LERI-WEILL DYSCHONDROSTEOSIS, Nature genetics, 19(1), 1998, pp. 70-73
POPLITEAL PTERYGIUM SYNDROME - A CLINICAL AND MOLECULAR STUDY
Authors: LEES MM WINTER RM CHITTY L
Citation: Mm. Lees et al., POPLITEAL PTERYGIUM SYNDROME - A CLINICAL AND MOLECULAR STUDY, European journal of human genetics, 6, 1998, pp. 1054-1054
NON-SYNDROMIC CLEFT-LIP AND PALATE - A GENOME WIDE SEARCH
Authors: LEES MM PRESCOTT N WINTER RM MALCOLM S
Citation: Mm. Lees et al., NON-SYNDROMIC CLEFT-LIP AND PALATE - A GENOME WIDE SEARCH, European journal of human genetics, 6, 1998, pp. 4264-4264
FRONTONASAL DYSPLASIA WITH OPTIC DISC ANOMALIES AND OTHER MIDLINE CRANIOFACIAL DEFECTS - A REPORT OF 6 CASES
Authors: LEES MM HODGKINS P REARDON W TAYLOR D STANHOPE R JONES B HAYWARD R HOCKLEY AD BARAITSER M WINTER RM
Citation: Mm. Lees et al., FRONTONASAL DYSPLASIA WITH OPTIC DISC ANOMALIES AND OTHER MIDLINE CRANIOFACIAL DEFECTS - A REPORT OF 6 CASES, Clinical dysmorphology, 7(3), 1998, pp. 157-162
RAPADILINO-SYNDROME - A NON-FINNISH CASE
Authors: KANT SG BARAITSER M MILLA PJ WINTER RM
Citation: Sg. Kant et al., RAPADILINO-SYNDROME - A NON-FINNISH CASE, Clinical dysmorphology, 7(2), 1998, pp. 135-138
MUTATION OF THE MITF GENE IN ALBINISM-DEAFNESS SYNDROME (TIETZ-SYNDROME)
Authors: AMIEL J WATKIN PM TASSABEHJI M READ AP WINTER RM
Citation: J. Amiel et al., MUTATION OF THE MITF GENE IN ALBINISM-DEAFNESS SYNDROME (TIETZ-SYNDROME), Clinical dysmorphology, 7(1), 1998, pp. 17-20
ANIMAL-MODELS FOR DYSMORPHOLOGY
Authors: WINTER RM
Citation: Rm. Winter, ANIMAL-MODELS FOR DYSMORPHOLOGY, Current opinion in genetics & development, 8(3), 1998, pp. 293-297
CLINICAL PHENOTYPE OF DESMOSTEROLOSIS
Authors: FITZPATRICK DR KEELING JW EVANS MJ KAN AE BELL JE PORTEOUS MEM MILLS K WINTER RM CLAYTON PT
Citation: Dr. Fitzpatrick et al., CLINICAL PHENOTYPE OF DESMOSTEROLOSIS, American journal of medical genetics, 75(2), 1998, pp. 145-152
SMITH-LEMLI-OPITZ-SYNDROME - A VARIABLE CLINICAL AND BIOCHEMICAL PHENOTYPE
Authors: RYAN AK BARTLETT K CLAYTON P EATON S MILLS L DONNAI D WINTER RM BURN J
Citation: Ak. Ryan et al., SMITH-LEMLI-OPITZ-SYNDROME - A VARIABLE CLINICAL AND BIOCHEMICAL PHENOTYPE, Journal of Medical Genetics, 35(7), 1998, pp. 558-565
FAMILIAL PERSISTENT PULMONARY-HYPERTENSION OF THE NEWBORN RESULTING FROM MISALIGNMENT OF THE PULMONARY VESSELS (CONGENITAL ALVEOLAR-CAPILLARY DYSPLASIA)
Authors: VASSAL HB MALONE M PETROS AJ WINTER RM
Citation: Hb. Vassal et al., FAMILIAL PERSISTENT PULMONARY-HYPERTENSION OF THE NEWBORN RESULTING FROM MISALIGNMENT OF THE PULMONARY VESSELS (CONGENITAL ALVEOLAR-CAPILLARY DYSPLASIA), Journal of Medical Genetics, 35(1), 1998, pp. 58-60
INTERNET DATABASES FOR CLINICAL GENETICISTS - AN OVERVIEW
Authors: VANSTEENSEL MAM WINTER RM
Citation: Mam. Vansteensel et Rm. Winter, INTERNET DATABASES FOR CLINICAL GENETICISTS - AN OVERVIEW, Clinical genetics, 53(5), 1998, pp. 323-330
OPTIC DISC ANOMALIES AND FRONTONASAL DYSPLASIA
Authors: HODGKINS P LEES M LAWSON J REARDON W LEITCH J THOROGOOD P WINTER RM TAYLOR DSI
Citation: P. Hodgkins et al., OPTIC DISC ANOMALIES AND FRONTONASAL DYSPLASIA, British journal of ophthalmology, 82(3), 1998, pp. 290-293
CLERGY DISSENT IN THE OLD SOUTH, 1830-1865 - CHESEBROUGH,DB
Authors: WINTER RM
Citation: Rm. Winter, CLERGY DISSENT IN THE OLD SOUTH, 1830-1865 - CHESEBROUGH,DB, Journal of Presbyterian history, 75(3), 1997, pp. 204-205
THE CLASS OF 1912 - ADAMS,IB, ADAMS,T
Authors: WINTER RM
Citation: Rm. Winter, THE CLASS OF 1912 - ADAMS,IB, ADAMS,T, Journal of Presbyterian history, 75(3), 1997, pp. 206-207
A PROMOTER MUTATION IN THE XIST GENE IN 2 UNRELATED FAMILIES WITH SKEWED X-CHROMOSOME INACTIVATION
Authors: PLENGE RM HENDRICH BD SCHWARTZ C ARENA JF NAUMOVA A SAPIENZA C WINTER RM WILLARD HF
Citation: Rm. Plenge et al., A PROMOTER MUTATION IN THE XIST GENE IN 2 UNRELATED FAMILIES WITH SKEWED X-CHROMOSOME INACTIVATION, Nature genetics, 17(3), 1997, pp. 353-356
ORAL-FACIAL-DIGITAL SYNDROME TYPE-1 (OFD1), A CAUSE OF POLYCYSTIC KIDNEY-DISEASE, MAPS TO XP22.2-XP22.3
Authors: FEATHER SA WOOLF AS DONNAI D MALCOLM SM WINTER RM
Citation: Sa. Feather et al., ORAL-FACIAL-DIGITAL SYNDROME TYPE-1 (OFD1), A CAUSE OF POLYCYSTIC KIDNEY-DISEASE, MAPS TO XP22.2-XP22.3, Journal of the American Society of Nephrology, 8, 1997, pp. 1717-1717
THE TWIST GENE, ALTHOUGH NOT DISRUPTED IN SAETHRE-CHOTZEN PATIENTS WITH APPARENTLY BALANCED TRANSLOCATIONS OF 7P21, IS MUTATED IN FAMILIAL AND SPORADIC CASES
Authors: ROSE CSP PATEL P REARDON W MALCOLM S WINTER RM
Citation: Csp. Rose et al., THE TWIST GENE, ALTHOUGH NOT DISRUPTED IN SAETHRE-CHOTZEN PATIENTS WITH APPARENTLY BALANCED TRANSLOCATIONS OF 7P21, IS MUTATED IN FAMILIAL AND SPORADIC CASES, Human molecular genetics, 6(8), 1997, pp. 1369-1373
THE ORAL-FACIAL-DIGITAL SYNDROME TYPE-1 (OFD1), A CAUSE OF POLYCYSTICKIDNEY-DISEASE AND ASSOCIATED MALFORMATIONS, MAPS TO XP22.2-XP22.3
Authors: FEATHER SA WOOLF AS DONNAI D MALCOLM S WINTER RM
Citation: Sa. Feather et al., THE ORAL-FACIAL-DIGITAL SYNDROME TYPE-1 (OFD1), A CAUSE OF POLYCYSTICKIDNEY-DISEASE AND ASSOCIATED MALFORMATIONS, MAPS TO XP22.2-XP22.3, Human molecular genetics, 6(7), 1997, pp. 1163-1167
A SYNDROME OF BRACHYPHALANGY, POLYDACTYLY AND ABSENT TIBIAE
Authors: BARAITSER M STEWART F WINTER RM HALL CM HERMAN S NEVIN NC
Citation: M. Baraitser et al., A SYNDROME OF BRACHYPHALANGY, POLYDACTYLY AND ABSENT TIBIAE, Clinical dysmorphology, 6(2), 1997, pp. 111-121
ANOTHER CASE OF THE AUTOSOMAL RECESSIVE WEAVER-LIKE SYNDROME
Authors: SLANEY SF WINTER RM
Citation: Sf. Slaney et Rm. Winter, ANOTHER CASE OF THE AUTOSOMAL RECESSIVE WEAVER-LIKE SYNDROME, American journal of medical genetics, 72(3), 1997, pp. 369-370
SYNPOLYDACTYLY PHENOTYPES CORRELATE WITH SIZE OF EXPANSIONS IN HOXD13POLYALANINE TRACT
Authors: GOODMAN FR MUNDLOS S MURAGAKI Y DONNAI D GIOVANNUCCIUZIELLI ML LAPI E MAJEWSKI F MCGAUGHRAN J MCKEOWN C REARDON W UPTON J WINTER RM OLSEN BR SCHAMBLER PJ
Citation: Fr. Goodman et al., SYNPOLYDACTYLY PHENOTYPES CORRELATE WITH SIZE OF EXPANSIONS IN HOXD13POLYALANINE TRACT, Proceedings of the National Academy of Sciences of the United Statesof America, 94(14), 1997, pp. 7458-7463
CRANIOSYNOSTOSIS ASSOCIATED WITH FGFR3 PRO250ARG MUTATION RESULTS IN A RANGE OF CLINICAL PRESENTATIONS INCLUDING UNISUTURAL SPORADIC CRANIOSYNOSTOSIS
Authors: REARDON W WILKES D RUTLAND P PULLEYN LJ MALCOLM S DEAN JCS EVANS RD JONES BM HAYWARD R HALL CM NEVIN NC BARAITSER M WINTER RM
Citation: W. Reardon et al., CRANIOSYNOSTOSIS ASSOCIATED WITH FGFR3 PRO250ARG MUTATION RESULTS IN A RANGE OF CLINICAL PRESENTATIONS INCLUDING UNISUTURAL SPORADIC CRANIOSYNOSTOSIS, Journal of Medical Genetics, 34(8), 1997, pp. 632-636
COUNSELING DILEMMAS ASSOCIATED WITH THE MOLECULAR CHARACTERIZATION OF2 ANGELMAN-SYNDROME FAMILIES
Authors: GILBERT HL BUXTON JL CHAN CTJ MCKAY T COTTRELL S RAMSDEN S WINTER RM PEMBREY ME MALCOLM S
Citation: Hl. Gilbert et al., COUNSELING DILEMMAS ASSOCIATED WITH THE MOLECULAR CHARACTERIZATION OF2 ANGELMAN-SYNDROME FAMILIES, Journal of Medical Genetics, 34(8), 1997, pp. 651-655
PENDRED SYNDROME - EVIDENCE FOR GENETIC HOMOGENEITY AND FURTHER REFINEMENT OF LINKAGE
Authors: GAUSDEN E COYLE B ARMOUR JAL COFFEY R GROSSMAN A FRASER GR WINTER RM PEMBREY ME KENDALLTAYLOR P STEPHENS D LUXON LM PHELPS PD REARDON W TREMBATH R
Citation: E. Gausden et al., PENDRED SYNDROME - EVIDENCE FOR GENETIC HOMOGENEITY AND FURTHER REFINEMENT OF LINKAGE, Journal of Medical Genetics, 34(2), 1997, pp. 126-129
Risultati: 1-25 | 26-50 | 51-75 | 76-87