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Results: 1-10 |
Results: 10
HOMOZYGOUS ALPHA-6 INTEGRIN MUTATION IN JUNCTIONAL EPIDERMOLYSIS-BULLOSA WITH CONGENITAL DUODENAL ATRESIA
Authors: PULKKINEN L KIMONIS VE XU YL SPANOU EN MCLEAN WHI UITTO J
Citation: L. Pulkkinen et al., HOMOZYGOUS ALPHA-6 INTEGRIN MUTATION IN JUNCTIONAL EPIDERMOLYSIS-BULLOSA WITH CONGENITAL DUODENAL ATRESIA, Human molecular genetics, 6(5), 1997, pp. 669-674
POSSIBLE NEW AUTOSOMAL RECESSIVE SYNDROME OF PARTIAL AGENESIS OF THE CORPUS-CALLOSUM, PONTINE HYPOPLASIA, FOCAL WHITE-MATTER CHANGES, HYPOTONIA, MENTAL-RETARDATION, AND MINOR ANOMALIES
Authors: JONAS RE KIMONIS VE MORALES A
Citation: Re. Jonas et al., POSSIBLE NEW AUTOSOMAL RECESSIVE SYNDROME OF PARTIAL AGENESIS OF THE CORPUS-CALLOSUM, PONTINE HYPOPLASIA, FOCAL WHITE-MATTER CHANGES, HYPOTONIA, MENTAL-RETARDATION, AND MINOR ANOMALIES, American journal of medical genetics, 73(2), 1997, pp. 184-188
CLINICAL MANIFESTATIONS IN 105 PERSONS WITH NEVOID BASAL-CELL CARCINOMA SYNDROME
Authors: KIMONIS VE GOLDSTEIN AM PASTAKIA B YANG ML KASE R DIGIOVANNA JJ BALE AE BALE SJ
Citation: Ve. Kimonis et al., CLINICAL MANIFESTATIONS IN 105 PERSONS WITH NEVOID BASAL-CELL CARCINOMA SYNDROME, American journal of medical genetics, 69(3), 1997, pp. 299-308
HOMOZYGOUS ALPHA-6 INTEGRIN GENE MUTATION IN EPIDERMOLYSIS-BULLOSA WITH CONGENITAL PYLORIC ATRESIA
Authors: UITTO J KIMONIS VE XU YL SPANOU EN PULKKINEN L
Citation: J. Uitto et al., HOMOZYGOUS ALPHA-6 INTEGRIN GENE MUTATION IN EPIDERMOLYSIS-BULLOSA WITH CONGENITAL PYLORIC ATRESIA, Journal of investigative dermatology, 108(4), 1997, pp. 24-24
CLINICAL-STUDIES AND LINKAGE ANALYSIS OF A CENTRAL ILLINOIS FAMILY WITH AUTOSOMAL-DOMINANT OPTIC ATROPHY
Authors: KIMONIS VE FRANKS WE HERMAN K AVAKIAN A LIN JP
Citation: Ve. Kimonis et al., CLINICAL-STUDIES AND LINKAGE ANALYSIS OF A CENTRAL ILLINOIS FAMILY WITH AUTOSOMAL-DOMINANT OPTIC ATROPHY, American journal of human genetics, 61(4), 1997, pp. 1634-1634
CLINICAL-FEATURES IN CHILDREN WITH NEVOID BASAL-CELL CARCINOMA SYNDROME
Authors: KIMONIS VE GOLDSTEIN AM PASTAKIA B YANG ML KASE R DIGIOVANNA JJ BALE AE BALE SJ
Citation: Ve. Kimonis et al., CLINICAL-FEATURES IN CHILDREN WITH NEVOID BASAL-CELL CARCINOMA SYNDROME, Pediatric research, 39(4), 1996, pp. 863-863
RADIOLOGIC FEATURES IN 75 CASES OF NEVOID BASAL-CELL CARCINOMA SYNDROME
Authors: KIMONIS VE PASTAKIA B DIGIOVANNA J BALE AE BALE SJ
Citation: Ve. Kimonis et al., RADIOLOGIC FEATURES IN 75 CASES OF NEVOID BASAL-CELL CARCINOMA SYNDROME, Radiology, 197, 1995, pp. 332-332
EFFECTS OF EARLY CYSTEAMINE THERAPY ON THYROID-FUNCTION AND GROWTH INNEPHROPATHIC CYSTINOSIS
Authors: KIMONIS VE TROENDLE J ROSE SR YANG ML MARKELLO TC GAHL WA
Citation: Ve. Kimonis et al., EFFECTS OF EARLY CYSTEAMINE THERAPY ON THYROID-FUNCTION AND GROWTH INNEPHROPATHIC CYSTINOSIS, The Journal of clinical endocrinology and metabolism, 80(11), 1995, pp. 3257-3261
CLINICAL-FEATURES IN 101 PERSONS WITH NEVOID BASAL-CELL CARCINOMA (NBCC) SYNDROME
Authors: KIMONIS VE GOLDSTEIN AM PASTAKIA B YANG ML DIGIOVANNA JJ BALE AE BALE SJ
Citation: Ve. Kimonis et al., CLINICAL-FEATURES IN 101 PERSONS WITH NEVOID BASAL-CELL CARCINOMA (NBCC) SYNDROME, American journal of human genetics, 57(4), 1995, pp. 281-281
LINKAGE OF PALMAR-PLANTAR HYPERKERATOSIS TO CHROMOSOME-12Q IN THE REGION OF THE TYPE-II KERATIN LOCI
Authors: KIMONIS VE BALE SJ DIGIOVANNA JJ COMPTON JG
Citation: Ve. Kimonis et al., LINKAGE OF PALMAR-PLANTAR HYPERKERATOSIS TO CHROMOSOME-12Q IN THE REGION OF THE TYPE-II KERATIN LOCI, American journal of human genetics, 53(3), 1993, pp. 1021-1021
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