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Results: 1-10 |
Results: 10
CORRELATION OF LINKAGE DATA WITH PHENOTYPE IN 8 FAMILIES WITH STICKLER-SYNDROME
Authors: WILKIN DJ MORTIER GR JOHNSON CL JONES MC DEPAEPE A SHOHAT M WILDIN RS FALK RE COHN DH
Citation: Dj. Wilkin et al., CORRELATION OF LINKAGE DATA WITH PHENOTYPE IN 8 FAMILIES WITH STICKLER-SYNDROME, American journal of medical genetics, 80(2), 1998, pp. 121-127
AVPR2 VARIANTS AND V2 VASOPRESSIN RECEPTOR FUNCTION IN NEPHROGENIC DIABETES-INSIPIDUS
Authors: WILDIN RS COGDELL DE VALADEZ V
Citation: Rs. Wildin et al., AVPR2 VARIANTS AND V2 VASOPRESSIN RECEPTOR FUNCTION IN NEPHROGENIC DIABETES-INSIPIDUS, Kidney international, 54(6), 1998, pp. 1909-1922
V2 VASOPRESSIN RECEPTOR MUTATION Y205C CAUSING NEPHROGENIC DIABETES-INSIPIDUS RETAINS PARTIAL FUNCTION IN-VITRO
Authors: WILDIN RS
Citation: Rs. Wildin, V2 VASOPRESSIN RECEPTOR MUTATION Y205C CAUSING NEPHROGENIC DIABETES-INSIPIDUS RETAINS PARTIAL FUNCTION IN-VITRO, Journal of investigative medicine, 44(1), 1996, pp. 64-64
V2 VASOPRESSIN RECEPTOR MUTATION Y205C CAUSING NEPHROGENIC DIABETES-INSIPIDUS RETAINS PARTIAL FUNCTION IN-VITRO
Authors: WILDIN RS
Citation: Rs. Wildin, V2 VASOPRESSIN RECEPTOR MUTATION Y205C CAUSING NEPHROGENIC DIABETES-INSIPIDUS RETAINS PARTIAL FUNCTION IN-VITRO, Pediatric research, 39(4), 1996, pp. 885-885
FUNCTIONAL DISSECTION OF THE MURINE LCK DISTAL PROMOTER
Authors: WILDIN RS WANG HU FORBUSH KA PERLMUTTER RM
Citation: Rs. Wildin et al., FUNCTIONAL DISSECTION OF THE MURINE LCK DISTAL PROMOTER, The Journal of immunology, 155(3), 1995, pp. 1286-1295
HEPATIC GLYCOGEN-SYNTHETASE DEFICIENCY (GSD-O) - ANOTHER CASE WITH THE TYPICAL PRESENTATION OF FASTING KETOTIC HYPOGLYCEMIA
Authors: WILDIN RS HUG G CLABOTS T
Citation: Rs. Wildin et al., HEPATIC GLYCOGEN-SYNTHETASE DEFICIENCY (GSD-O) - ANOTHER CASE WITH THE TYPICAL PRESENTATION OF FASTING KETOTIC HYPOGLYCEMIA, Pediatric research, 35(4), 1994, pp. 10000209-10000209
A BROAD-SPECTRUM OF AVPR2 MUTATIONS CAUSES CONGENITAL NEPHROGENIC DIABETES-INSIPIDUS (CNDI)
Authors: WILDIN RS ANTUSH MJ SCHOOF JM GANGSAAS I SCOTT CR
Citation: Rs. Wildin et al., A BROAD-SPECTRUM OF AVPR2 MUTATIONS CAUSES CONGENITAL NEPHROGENIC DIABETES-INSIPIDUS (CNDI), Pediatric research, 35(4), 1994, pp. 10000376-10000376
HETEROGENEOUS AVPR2 GENE-MUTATIONS IN CONGENITAL NEPHROGENIC DIABETES-INSIPIDUS
Authors: WILDIN RS ANTUSH MJ BENNETT RL SCHOOF JM SCOTT CR
Citation: Rs. Wildin et al., HETEROGENEOUS AVPR2 GENE-MUTATIONS IN CONGENITAL NEPHROGENIC DIABETES-INSIPIDUS, American journal of human genetics, 55(2), 1994, pp. 266-277
RECIPROCAL PRODUCTS OF INTRAGENIC UNEQUAL CROSSING-OVER IN THE AVPR2 GENE DEFINE THE MUTATION MECHANISM IN 2 PATIENTS WITH X-LINKED NEPHROGENIC DIABETES-INSIPIDUS
Authors: WILDIN RS ANTUSH MJ SCHOOF JM BENNETT RL SCOTT CR
Citation: Rs. Wildin et al., RECIPROCAL PRODUCTS OF INTRAGENIC UNEQUAL CROSSING-OVER IN THE AVPR2 GENE DEFINE THE MUTATION MECHANISM IN 2 PATIENTS WITH X-LINKED NEPHROGENIC DIABETES-INSIPIDUS, American journal of human genetics, 53(3), 1993, pp. 163-163
FURTHER EVIDENCE FOR A LETHAL X-LINKED SYNDROME OF ENTEROPATHY, DIABETES-MELLITUS AND ENDOCRINOPATHY - DIETER SYNDROME
Authors: LEVYLAHAD E KAPUR R WILDIN RS
Citation: E. Levylahad et al., FURTHER EVIDENCE FOR A LETHAL X-LINKED SYNDROME OF ENTEROPATHY, DIABETES-MELLITUS AND ENDOCRINOPATHY - DIETER SYNDROME, American journal of human genetics, 53(3), 1993, pp. 467-467
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