AAAAAA

   
Results: 1-10 |
Results: 10
A SINGLE MUTATION THAT RESULTS IN AN ASP TO HIS SUBSTITUTION AND PARTIAL EXON SKIPPING IN A FAMILY WITH CONGENITAL CONTRACTURAL ARACHNODACTYLY
Authors: BABCOCK D GASNER C FRANCKE U MASLEN C
Citation: D. Babcock et al., A SINGLE MUTATION THAT RESULTS IN AN ASP TO HIS SUBSTITUTION AND PARTIAL EXON SKIPPING IN A FAMILY WITH CONGENITAL CONTRACTURAL ARACHNODACTYLY, Human genetics, 103(1), 1998, pp. 22-28
CHARACTERIZATION OF A SINGLE MUTATION THAT RESULTS IN AN ASPARTIC-ACID TO HISTIDINE SUBSTITUTION AND PARTIAL EXON SKIPPING IN A PATIENT WITH CONGENITAL CONTRACTURAL ARACHNODACTYLY
Authors: MASLEN CL BABCOCK D GASNER C FRANCKE U
Citation: Cl. Maslen et al., CHARACTERIZATION OF A SINGLE MUTATION THAT RESULTS IN AN ASPARTIC-ACID TO HISTIDINE SUBSTITUTION AND PARTIAL EXON SKIPPING IN A PATIENT WITH CONGENITAL CONTRACTURAL ARACHNODACTYLY, American journal of human genetics, 61(4), 1997, pp. 1987-1987
THE BONE-MINERAL STATUS OF PATIENTS WITH MARFAN-SYNDROME
Authors: KOHLMEIER L GASNER C BACHRACH LK MARCUS R
Citation: L. Kohlmeier et al., THE BONE-MINERAL STATUS OF PATIENTS WITH MARFAN-SYNDROME, Journal of bone and mineral research, 10(10), 1995, pp. 1550-1555
FIBRILLIN ABNORMALITIES AND PROGNOSIS IN MARFAN-SYNDROME AND RELATED DISORDERS
Authors: AOYAMA T FRANCKE U GASNER C FURTHMAYR H
Citation: T. Aoyama et al., FIBRILLIN ABNORMALITIES AND PROGNOSIS IN MARFAN-SYNDROME AND RELATED DISORDERS, American journal of medical genetics, 58(2), 1995, pp. 169-176
MARFAN-SYNDROME RND RELATED CONNECTIVE-TISSUE DISORDERS - EXPRESSION OF FBN1 MUTATIONS AT THE MESSENGER-RNA, PROTEIN AND PHENOTYPIC LEVELS
Authors: FRANCKE U LIU W BRENN T GASNER C FURTHMAYR H
Citation: U. Francke et al., MARFAN-SYNDROME RND RELATED CONNECTIVE-TISSUE DISORDERS - EXPRESSION OF FBN1 MUTATIONS AT THE MESSENGER-RNA, PROTEIN AND PHENOTYPIC LEVELS, American journal of human genetics, 57(4), 1995, pp. 33-33
A GLY1127SER MUTATION IN AN EGF-LIKE DOMAIN OF THE FIBRILLIN-1 GENE IS A RISK FACTOR FOR ASCENDING AORTIC-ANEURYSM AND DISSECTION
Authors: FRANCKE U BERG MA TYNAN K BRENN T LIU WG AOYAMA T GASNER C MILLER DC FURTHMAYR H
Citation: U. Francke et al., A GLY1127SER MUTATION IN AN EGF-LIKE DOMAIN OF THE FIBRILLIN-1 GENE IS A RISK FACTOR FOR ASCENDING AORTIC-ANEURYSM AND DISSECTION, American journal of human genetics, 56(6), 1995, pp. 1287-1296
MUTATION SCREENING OF COMPLETE FIBRILLIN-1 CODING SEQUENCE - REPORT OF 5 NEW MUTATIONS, INCLUDING 2 IN 8-CYSTEINE DOMAINS
Authors: TYNAN K COMEAU K PEARSON M WILGENBUS P LEVITT D GASNER C BERG MA MILLER DC FRANCKE U
Citation: K. Tynan et al., MUTATION SCREENING OF COMPLETE FIBRILLIN-1 CODING SEQUENCE - REPORT OF 5 NEW MUTATIONS, INCLUDING 2 IN 8-CYSTEINE DOMAINS, Human molecular genetics, 2(11), 1993, pp. 1813-1821
THE JOINING CIRCLES
Authors: GASNER C
Citation: C. Gasner, THE JOINING CIRCLES, American journal of medical genetics, 47(1), 1993, pp. 136-142
BONE-MINERAL STATUS OF WOMEN WITH MARFAN-SYNDROME
Authors: KOHLMEIER L GASNER C MARCUS R
Citation: L. Kohlmeier et al., BONE-MINERAL STATUS OF WOMEN WITH MARFAN-SYNDROME, The American journal of medicine, 95(6), 1993, pp. 568-572
AORTIC-ANEURYSM IN A FAMILY WITH A GLYCINE-TO-SERINE SUBSTITUTION IN THE FBN-1 GENE
Authors: BERG MA TYNAN K AOYAMA T GASNER C COMEAU K PEARSON M LEVITT D ALCORN D MILLER C FURTHMAYR H FRANCKE U
Citation: Ma. Berg et al., AORTIC-ANEURYSM IN A FAMILY WITH A GLYCINE-TO-SERINE SUBSTITUTION IN THE FBN-1 GENE, American journal of human genetics, 53(3), 1993, pp. 151-151
Risultati: 1-10 |