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Results: 1-25 | 26-39
Results: 1-25/39
A SYNDROME OF SEVERE MENTAL-RETARDATION, SPASTICITY, AND TAPETORETINAL DEGENERATION LINKED TO CHROMOSOME 15Q24
Authors: MITCHELL SJ MCHALE DP CAMPBELL DA LENCH NJ MUELLER RF BUNDEY SE MARKHAM AF
Citation: Sj. Mitchell et al., A SYNDROME OF SEVERE MENTAL-RETARDATION, SPASTICITY, AND TAPETORETINAL DEGENERATION LINKED TO CHROMOSOME 15Q24, American journal of human genetics, 62(5), 1998, pp. 1070-1076
AUTOZYGOSITY MAPPING, TO CHROMOSOME 11Q25, OF A RARE AUTOSOMAL RECESSIVE SYNDROME CAUSING HISTIOCYTOSIS, JOINT CONTRACTURES, AND SENSORINEURAL DEAFNESS
Authors: MOYNIHAN LM BUNDEY SE HEATH D JONES EL MCHALE DP MUELLER RF MARKHAM AF LENCH NJ
Citation: Lm. Moynihan et al., AUTOZYGOSITY MAPPING, TO CHROMOSOME 11Q25, OF A RARE AUTOSOMAL RECESSIVE SYNDROME CAUSING HISTIOCYTOSIS, JOINT CONTRACTURES, AND SENSORINEURAL DEAFNESS, American journal of human genetics, 62(5), 1998, pp. 1123-1128
IDENTIFICATION OF MUTATIONS IN THE CONNEXIN-26 GENE THAT CAUSE AUTOSOMAL RECESSIVE NONSYNDROMIC HEARING-LOSS
Authors: SCOTT DA KRAFT ML CARMI R RAMESH A ELBEDOUR K YAIRI Y SRISAILAPATHY CRS ROSENGREN SS MARKHAM AF MUELLER RF LENCH NJ VANCAMP G SMITH RJH SHEFFIELD VC
Citation: Da. Scott et al., IDENTIFICATION OF MUTATIONS IN THE CONNEXIN-26 GENE THAT CAUSE AUTOSOMAL RECESSIVE NONSYNDROMIC HEARING-LOSS, Human mutation, 11(5), 1998, pp. 387-394
PRESYMPTOMATIC DIAGNOSIS OF NONSYNDROMIC HEARING-LOSS BY GENOTYPING
Authors: CHEN AH MUELLER RF PRASAD SD GREINWALD JH MANALIGOD J MUILENBURG AC VERHOEVEN K VANCAMP G SMITH RJH
Citation: Ah. Chen et al., PRESYMPTOMATIC DIAGNOSIS OF NONSYNDROMIC HEARING-LOSS BY GENOTYPING, Archives of otolaryngology, head & neck surgery, 124(1), 1998, pp. 20-24
A MOROCCAN FAMILY WITH AUTOSOMAL RECESSIVE SENSORINEURAL HEARING-LOSSCAUSED BY A MUTATION IN THE GAP JUNCTION PROTEIN GENE CONNEXIN-26 (GJB2)
Authors: LENCH NJ MARKHAM AF MUELLER RF KELSELL DP SMITH RJH WILLEMS PJ SCHATTEMAN I CAPON H VANDEHEYNING PJ VANCAMP G
Citation: Nj. Lench et al., A MOROCCAN FAMILY WITH AUTOSOMAL RECESSIVE SENSORINEURAL HEARING-LOSSCAUSED BY A MUTATION IN THE GAP JUNCTION PROTEIN GENE CONNEXIN-26 (GJB2), Journal of Medical Genetics, 35(2), 1998, pp. 151-152
ATTITUDES OF DEAF ADULTS TOWARD GENETIC TESTING FOR HEREDITARY DEAFNESS
Authors: MIDDLETON A HEWISON J MUELLER RF
Citation: A. Middleton et al., ATTITUDES OF DEAF ADULTS TOWARD GENETIC TESTING FOR HEREDITARY DEAFNESS, American journal of human genetics, 63(4), 1998, pp. 1175-1180
PRIMARY AUTOSOMAL RECESSIVE MICROCEPHALY (MCPH1) MAPS TO CHROMOSOME 8P22-PTER
Authors: JACKSON AP MCHALE DP CAMPBELL DA JAFRI H RASHID Y MANNAN J KARBANI G CORRY P LEVENE MI MUELLER RF MARKHAM AF LENCH NJ WOODS CG
Citation: Ap. Jackson et al., PRIMARY AUTOSOMAL RECESSIVE MICROCEPHALY (MCPH1) MAPS TO CHROMOSOME 8P22-PTER, American journal of human genetics, 63(2), 1998, pp. 541-546
PRELINGUAL DEAFNESS - HIGH PREVALENCE OF A 30DELG MUTATION IN THE CONNEXIN 26 GENE
Authors: DENOYELLE F WEIL D MAW MA WILCOX SA LENCH NJ ALLENPOWELL DR OSBORN AH DAHL HHM MIDDLETON A HOUSEMAN MJ DODE C MARLIN S BOULILAELGGAIED A GRATI M AYADI H BENARAB S BITOUN P LINAGRANADE G GODET J MUSTAPHA M LOISELET J ELZIR E AUBOIS A JOANNARD A LEVILLIERS J GARABEDIAN EN MUELLER RF GARDNER RJM PETIT C
Citation: F. Denoyelle et al., PRELINGUAL DEAFNESS - HIGH PREVALENCE OF A 30DELG MUTATION IN THE CONNEXIN 26 GENE, Human molecular genetics, 6(12), 1997, pp. 2173-2177
MACROCEPHALY WITH CUTIS MARMORATA, HEMANGIOMA AND SYNDACTYLY - A DISTINCTIVE OVERGROWTH SYNDROME
Authors: CLAYTONSMITH J KERR B BRUNNER H TRANEBJAERG L MAGEE A HENNEKAM RCM MUELLER RF BRUETON L SUPER M STEENJOHNSEN J DONNAI D
Citation: J. Claytonsmith et al., MACROCEPHALY WITH CUTIS MARMORATA, HEMANGIOMA AND SYNDACTYLY - A DISTINCTIVE OVERGROWTH SYNDROME, Clinical dysmorphology, 6(4), 1997, pp. 291-302
SELECTIVE IGG2 SUBCLASS DEFICIENCY - A MARKER FOR THE SYNDROME OF PREPOSTNATAL GROWTH-RETARDATION, DEVELOPMENTAL DELAY, HYPOTROPHY OF DISTAL EXTREMITIES, DENTAL ANOMALIES AND ECZEMA/
Authors: AINSWORTH SB BARAITSER M MUELLER RF MASSEY RF
Citation: Sb. Ainsworth et al., SELECTIVE IGG2 SUBCLASS DEFICIENCY - A MARKER FOR THE SYNDROME OF PREPOSTNATAL GROWTH-RETARDATION, DEVELOPMENTAL DELAY, HYPOTROPHY OF DISTAL EXTREMITIES, DENTAL ANOMALIES AND ECZEMA/, Clinical dysmorphology, 6(2), 1997, pp. 139-146
COUNSELING IMPLICATIONS OF CHROMOSOMAL-ABNORMALITIES OTHER THAN TRISOMY-21 DETECTED THROUGH A MATERNAL SERUM SCREENING-PROGRAM
Authors: SHERIDAN E WILLIAMS J CAINE A MORGAN R MASON G MUELLER RF
Citation: E. Sheridan et al., COUNSELING IMPLICATIONS OF CHROMOSOMAL-ABNORMALITIES OTHER THAN TRISOMY-21 DETECTED THROUGH A MATERNAL SERUM SCREENING-PROGRAM, British journal of obstetrics and gynaecology, 104(1), 1997, pp. 42-45
FAMILIAL APLASIA HYPOPLASIA OF PELVIS, FEMUR, FIBULA, AND ULNA WITH ABNORMAL DIGITS IN AN INBRED PAKISTANI MUSLIM FAMILY - A POSSIBLE NEW AUTOSOMAL RECESSIVE DISORDER WITH OVERLAPPING MANIFESTATIONS OF THE SYNDROMES OF FUHRMANN, AL-AWADI, AND RAAS-ROTHSCHILD
Authors: KUMAR D DUGGAN MB MUELLER RF KARBANI G
Citation: D. Kumar et al., FAMILIAL APLASIA HYPOPLASIA OF PELVIS, FEMUR, FIBULA, AND ULNA WITH ABNORMAL DIGITS IN AN INBRED PAKISTANI MUSLIM FAMILY - A POSSIBLE NEW AUTOSOMAL RECESSIVE DISORDER WITH OVERLAPPING MANIFESTATIONS OF THE SYNDROMES OF FUHRMANN, AL-AWADI, AND RAAS-ROTHSCHILD, American journal of medical genetics, 70(2), 1997, pp. 107-113
MULTICYSTIC DYSPLASTIC KIDNEY - AN INHERITED ANOMALY
Authors: BELK RA THOMAS DFM MUELLER RF JOYCE AD WESTON MJ
Citation: Ra. Belk et al., MULTICYSTIC DYSPLASTIC KIDNEY - AN INHERITED ANOMALY, Pediatrics, 100(3), 1997, pp. 582-583
CONNEXIN-26 MUTATIONS IN HEREDITARY NON-SYNDROMIC SENSORINEURAL DEAFNESS
Authors: KELSELL DP DUNLOP J STEVENS HP LENCH NJ LIANG JN PARRY G MUELLER RF LEIGH IM
Citation: Dp. Kelsell et al., CONNEXIN-26 MUTATIONS IN HEREDITARY NON-SYNDROMIC SENSORINEURAL DEAFNESS, Nature, 387(6628), 1997, pp. 80-83
GENETIC-HETEROGENEITY IN SCHWARTZ-JAMPEL-SYNDROME - 2 FAMILIES WITH NEONATAL SCHWARTZ-JAMPEL-SYNDROME DO NOT MAP TO HUMAN-CHROMOSOME-1P34-P36.1
Authors: BROWN KA ALGAZALI LI MOYNIHAN LM LENCH NJ MARKHAM AF MUELLER RF
Citation: Ka. Brown et al., GENETIC-HETEROGENEITY IN SCHWARTZ-JAMPEL-SYNDROME - 2 FAMILIES WITH NEONATAL SCHWARTZ-JAMPEL-SYNDROME DO NOT MAP TO HUMAN-CHROMOSOME-1P34-P36.1, Journal of Medical Genetics, 34(8), 1997, pp. 685-687
A NEW LOCUS FOR NON-SYNDROMAL, AUTOSOMAL RECESSIVE, SENSORINEURAL HEARING-LOSS (DFNB16) MAPS TO HUMAN-CHROMOSOME 15Q21-Q22
Authors: CAMPBELL DA MCHALE DP BROWN KA MOYNIHAN LM HOUSEMAN M KARBANI G PARRY G JANJUA AH NEWTON V ALGAZALI L MARKHAM AF LENCH NJ MUELLER RF
Citation: Da. Campbell et al., A NEW LOCUS FOR NON-SYNDROMAL, AUTOSOMAL RECESSIVE, SENSORINEURAL HEARING-LOSS (DFNB16) MAPS TO HUMAN-CHROMOSOME 15Q21-Q22, Journal of Medical Genetics, 34(12), 1997, pp. 1015-1017
A STUDY OF ATTITUDES OF FAMILIES WITH DEAFNESS TOWARDS GENETIC TESTING FOR DEAFNESS
Authors: MIDDLETON A HEWISON J MUELLER RF
Citation: A. Middleton et al., A STUDY OF ATTITUDES OF FAMILIES WITH DEAFNESS TOWARDS GENETIC TESTING FOR DEAFNESS, Journal of Medical Genetics, 34, 1997, pp. 22-22
PRENATAL-DIAGNOSIS FOR AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY-DISEASE USING LINKED MARKERS
Authors: ROWLAND JS MUELLER RF
Citation: Js. Rowland et Rf. Mueller, PRENATAL-DIAGNOSIS FOR AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY-DISEASE USING LINKED MARKERS, Journal of Medical Genetics, 34, 1997, pp. 404-404
AUTOSOMAL RECESSIVE NON-SYNDROMIC DEAFNESS (DFNA3 DFNB1) - CONNEXIN-26 MUTATION ANALYSIS IN PAKISTANI, MIDDLE-EASTERN AND CAUCASIAN POPULATIONS/
Authors: LENCH NJ MUELLER RF HOUSEMAN M MIDDLETON A KARBANI G JANJUA AH NEWTON V PARRY G ALGAZALI LI MARKHAM AF
Citation: Nj. Lench et al., AUTOSOMAL RECESSIVE NON-SYNDROMIC DEAFNESS (DFNA3 DFNB1) - CONNEXIN-26 MUTATION ANALYSIS IN PAKISTANI, MIDDLE-EASTERN AND CAUCASIAN POPULATIONS/, American journal of human genetics, 61(4), 1997, pp. 107-107
A PILOT-STUDY OF ATTITUDES OF DEAF AND HEARING PARENTS TOWARDS ISSUESSURROUNDING GENETIC TESTING FOR DEAFNESS
Authors: MIDDLETON A HEWISON J MUELLER RF
Citation: A. Middleton et al., A PILOT-STUDY OF ATTITUDES OF DEAF AND HEARING PARENTS TOWARDS ISSUESSURROUNDING GENETIC TESTING FOR DEAFNESS, American journal of human genetics, 61(4), 1997, pp. 1093-1093
LINKAGE STUDIES OF NON-SYNDROMIC RECESSIVE DEAFNESS (NSRD) IN A FAMILY ORIGINATING FROM THE MIRPUR REGION OF PAKISTAN MAPS DFNB1 CENTROMERIC TO D13S175 (VOL 5, PG 169, 1996)
Authors: BROWN KA JANJUA AH KARBANI G PARRY G NOBLE A CROCKFORD G BISHOP DT NEWTON VE MARKHAM AF MUELLER RF
Citation: Ka. Brown et al., LINKAGE STUDIES OF NON-SYNDROMIC RECESSIVE DEAFNESS (NSRD) IN A FAMILY ORIGINATING FROM THE MIRPUR REGION OF PAKISTAN MAPS DFNB1 CENTROMERIC TO D13S175 (VOL 5, PG 169, 1996), Human molecular genetics, 5(5), 1996, pp. 710-710
LINKAGE STUDIES OF NON-SYNDROMIC RECESSIVE DEAFNESS (NSRD) IN A FAMILY ORIGINATING FROM THE MIRPUR REGION OF PAKISTAN MAPS DFNB1 CENTROMERIC TO D13S175
Authors: BROWN KA JANJUA AH KARBANI G PARRY G NOBLE A CROCKFORD G BISHOP DT NEWTON VE MARKHAM AF MUELLER RF
Citation: Ka. Brown et al., LINKAGE STUDIES OF NON-SYNDROMIC RECESSIVE DEAFNESS (NSRD) IN A FAMILY ORIGINATING FROM THE MIRPUR REGION OF PAKISTAN MAPS DFNB1 CENTROMERIC TO D13S175, Human molecular genetics, 5(1), 1996, pp. 169-173
CHARACTERIZATION OF THERMOPHILIC CONSORTIA FROM 2 SOURING OIL-RESERVOIRS
Authors: MUELLER RF NIELSEN PH
Citation: Rf. Mueller et Ph. Nielsen, CHARACTERIZATION OF THERMOPHILIC CONSORTIA FROM 2 SOURING OIL-RESERVOIRS, Applied and environmental microbiology, 62(9), 1996, pp. 3083-3087
BACTERIAL TRANSPORT AND COLONIZATION IN LOW NUTRIENT ENVIRONMENTS
Authors: MUELLER RF
Citation: Rf. Mueller, BACTERIAL TRANSPORT AND COLONIZATION IN LOW NUTRIENT ENVIRONMENTS, Water research, 30(11), 1996, pp. 2681-2690
A CROSS-SECTIONAL STUDY OF RENAL INVOLVEMENT IN TUBEROUS SCLEROSIS
Authors: COOK JA OLIVER K MUELLER RF SAMPSON J
Citation: Ja. Cook et al., A CROSS-SECTIONAL STUDY OF RENAL INVOLVEMENT IN TUBEROUS SCLEROSIS, Journal of Medical Genetics, 33(6), 1996, pp. 480-484
Risultati: 1-25 | 26-39