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Results: 1-9 |
Results: 9
CEREBELLAR HYPOPLASIA IN A PATIENT WITH VELO-CARDIO-FACIAL SYNDROME
Authors: DEVRIENDT K VANTHIENEN MN SWILLEN A FRYNS JP
Citation: K. Devriendt et al., CEREBELLAR HYPOPLASIA IN A PATIENT WITH VELO-CARDIO-FACIAL SYNDROME, Developmental Medicine and Child Neurology, 38(10), 1996, pp. 949-953
RECURRENT MISSPLICING OF FIBRILLIN EXON-2 IN 2 PATIENTS WITH NEONATALMARFAN-SYNDROME
Authors: WANG M PRICE CE HAN J CISLER J IMAIZUMI K VANTHIENEN MN DEPAEPE A GODFREY M
Citation: M. Wang et al., RECURRENT MISSPLICING OF FIBRILLIN EXON-2 IN 2 PATIENTS WITH NEONATALMARFAN-SYNDROME, Human molecular genetics, 4(4), 1995, pp. 607-613
GENE CONVERSION BETWEEN RED AND DEFECTIVE GREEN OPSIN GENE IN BLUE CONE MONOCHROMACY
Authors: REYNIERS E VANTHIENEN MN MEIRE F BOULLE K DEVRIES K KESTELIJN P WILLEMS PJ
Citation: E. Reyniers et al., GENE CONVERSION BETWEEN RED AND DEFECTIVE GREEN OPSIN GENE IN BLUE CONE MONOCHROMACY, Genomics, 29(2), 1995, pp. 323-328
CHROMOSOME 13Q DELETION WITH APPARENT TYPE-II WAARDENBURG SYNDROME - EVIDENCE FOR A GENE INVOLVED IN NEURAL CREST FUNCTION ON 13Q
Authors: VANCAMP G VANTHIENEN MN HANDIG I VANROY B WILLEMS PJ
Citation: G. Vancamp et al., CHROMOSOME 13Q DELETION WITH APPARENT TYPE-II WAARDENBURG SYNDROME - EVIDENCE FOR A GENE INVOLVED IN NEURAL CREST FUNCTION ON 13Q, Cytogenetics and cell genetics, 70(1-2), 1995, pp. 21-21
CHROMOSOME 13Q DELETION WITH WAARDENBURG SYNDROME - FURTHER EVIDENCE FOR A GENE INVOLVED IN NEURAL CREST FUNCTION ON 13Q
Authors: VANCAMP G VANTHIENEN MN HANDIG I VANROY B RAO VS MILUNSKY A READ AP BALDWIN CT FARRER LA BONDUELLE M STANDAERT L MEIRE F WILLEMS PJ
Citation: G. Vancamp et al., CHROMOSOME 13Q DELETION WITH WAARDENBURG SYNDROME - FURTHER EVIDENCE FOR A GENE INVOLVED IN NEURAL CREST FUNCTION ON 13Q, Journal of Medical Genetics, 32(7), 1995, pp. 531-536
ABNORMAL MORPHOLOGY OF FIBRILLIN MICROFIBRILS IN FIBROBLAST-CULTURES FROM PATIENTS WITH NEONATAL MARFAN-SYNDROME
Authors: GODFREY M RAGHUNATH M CISLER J BEVINS CL DEPAEPE A DIROCCO M GREGORITCH J IMAIZUMI K KAPLAN P KUROKI Y SILBERBACH M SUPERTIFURGA A VANTHIENEN MN VETTER U STEINMANN B
Citation: M. Godfrey et al., ABNORMAL MORPHOLOGY OF FIBRILLIN MICROFIBRILS IN FIBROBLAST-CULTURES FROM PATIENTS WITH NEONATAL MARFAN-SYNDROME, The American journal of pathology, 146(6), 1995, pp. 1414-1421
MONOZYGOTIC TWINS DISCORDANT FOR SPONDYLOCOSTAL DYSOSTOSIS
Authors: VANTHIENEN MN VANDERAUWERA BJ
Citation: Mn. Vanthienen et Bj. Vanderauwera, MONOZYGOTIC TWINS DISCORDANT FOR SPONDYLOCOSTAL DYSOSTOSIS, American journal of medical genetics, 52(4), 1994, pp. 483-486
MULTIPLE PTERYGIUM SYNDROME WITH BODY ASYMMETRY
Authors: WILLEMS PJ COLPAERT C VAERENBERGH M VANTHIENEN MN PARIZEL PM VANMARCK E SCHUERWEGH WH MARTIN JJ
Citation: Pj. Willems et al., MULTIPLE PTERYGIUM SYNDROME WITH BODY ASYMMETRY, American journal of medical genetics, 47(1), 1993, pp. 106-111
HIGH-RESOLUTION MAPPING OF INTERSTITIAL LONG ARM DELETIONS OF CHROMOSOME-16 - RELATIONSHIP TO PHENOTYPE
Authors: CALLEN DF EYRE H LANE S SHEN Y HANSMANN I SPINNER N ZACKAI E MCDONALDMCGINN D SCHUFFENHAUER S WAUTERS J VANTHIENEN MN VANROY B SUTHERLAND GR HAAN EA
Citation: Df. Callen et al., HIGH-RESOLUTION MAPPING OF INTERSTITIAL LONG ARM DELETIONS OF CHROMOSOME-16 - RELATIONSHIP TO PHENOTYPE, Journal of Medical Genetics, 30(10), 1993, pp. 828-832
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