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Results: 1-9 |
Results: 9
PREIMPLANTATION GENETIC DIAGNOSIS OF SPINAL MUSCULAR-ATROPHY
Authors: DREESEN JCFM BRAS M DEDIESMULDERS C DUMOULIN JCM COBBEN JM EVERS JLH SMEETS HJM GERAEDTS JPM
Citation: Jcfm. Dreesen et al., PREIMPLANTATION GENETIC DIAGNOSIS OF SPINAL MUSCULAR-ATROPHY, Molecular human reproduction (Print), 4(9), 1998, pp. 881-885
THE CEREBRO-COSTO-MANDIBULAR SYNDROME - 7 PATIENTS AND REVIEW OF THE LITERATURE
Authors: VANDENENDE JJ SCHRANDERSTUMPEL C RUPPRECHT E MEINECKE P MAROTEAUX P DEDIESMULDERS C HAMEL BCJ
Citation: Jj. Vandenende et al., THE CEREBRO-COSTO-MANDIBULAR SYNDROME - 7 PATIENTS AND REVIEW OF THE LITERATURE, Clinical dysmorphology, 7(2), 1998, pp. 87-95
DEVELOPMENT OF PREIMPLANTATION GENETIC DIAGNOSIS OF SPINAL MUSCULAR-ATROPHY
Authors: DREESEN JCFM BRAS M SMEETS HJM COBBEN JM DEDIESMULDERS C DUMOULIN JCM EVERS JLH GERAEDTS JPM
Citation: Jcfm. Dreesen et al., DEVELOPMENT OF PREIMPLANTATION GENETIC DIAGNOSIS OF SPINAL MUSCULAR-ATROPHY, Human reproduction, 12, 1997, pp. 144-144
OCULOCEREBROCUTANEOUS SYNDROME - REPORT OF 3 ADDITIONAL CASES AND ETIOLOGIC CONSIDERATIONS
Authors: MOOG U DEDIESMULDERS C SYSTERMANS JMJ COBBEN JM
Citation: U. Moog et al., OCULOCEREBROCUTANEOUS SYNDROME - REPORT OF 3 ADDITIONAL CASES AND ETIOLOGIC CONSIDERATIONS, Clinical genetics, 52(4), 1997, pp. 219-225
A STUDY OF THE COGNITIVE AND PSYCHOLOGICAL PROFILE IN 16 CHILDREN WITH CONGENITAL OR JUVENILE MYOTONIC-DYSTROPHY
Authors: STEYAERT J UMANS S WILLEKENS D LEGIUS E PIJKELS E DEDIESMULDERS C VANDENBERGHE H FRYNS JP
Citation: J. Steyaert et al., A STUDY OF THE COGNITIVE AND PSYCHOLOGICAL PROFILE IN 16 CHILDREN WITH CONGENITAL OR JUVENILE MYOTONIC-DYSTROPHY, Clinical genetics, 52(3), 1997, pp. 135-141
MUTATIONS IN FGFRI AND FGFR2 CAUSE FAMILIAL AND SPORADIC PFEIFFER SYNDROME
Authors: SCHELL U HEHR A FELDMAN GJ ROBIN NH ZACKAI EH DEDIESMULDERS C VISKOCHIL DH STEWART JM WOLFF G OHASHI H PRICE RA COHEN MM MUENKE M
Citation: U. Schell et al., MUTATIONS IN FGFRI AND FGFR2 CAUSE FAMILIAL AND SPORADIC PFEIFFER SYNDROME, Human molecular genetics, 4(3), 1995, pp. 323-328
EXCLUSIVELY MATERNAL TRANSMISSION OF AUTOSOMAL-DOMINANT BRACHMANN-DE LANGE SYNDROME
Authors: DEDIESMULDERS C SCHRANDERSTUMPEL C FRYNS JP THEUNISSEN P
Citation: C. Dediesmulders et al., EXCLUSIVELY MATERNAL TRANSMISSION OF AUTOSOMAL-DOMINANT BRACHMANN-DE LANGE SYNDROME, American journal of medical genetics, 52(3), 1994, pp. 363-363
FAMILIAL OCCURRENCE OF RENAL AND MULLERIAN DUCT HYPOPLASIA, CRANIOFACIAL ANOMALIES, SEVERE GROWTH AND DEVELOPMENTAL DELAY - A 4P DELETION
Authors: DEDIESMULDERS C SCHRANDERSTUMPEL C FRYNS JP
Citation: C. Dediesmulders et al., FAMILIAL OCCURRENCE OF RENAL AND MULLERIAN DUCT HYPOPLASIA, CRANIOFACIAL ANOMALIES, SEVERE GROWTH AND DEVELOPMENTAL DELAY - A 4P DELETION, American journal of medical genetics, 47(6), 1993, pp. 936-936
MARDEN-WALKER SYNDROME - CASE-REPORT, LITERATURE-REVIEW AND NOSOLOGICDISCUSSION
Authors: SCHRANDERSTUMPEL C DEDIESMULDERS C DEKROM M SCHYNSFLEUREN S HAMEL B JAEKEN D FRYNS JP
Citation: C. Schranderstumpel et al., MARDEN-WALKER SYNDROME - CASE-REPORT, LITERATURE-REVIEW AND NOSOLOGICDISCUSSION, Clinical genetics, 43(6), 1993, pp. 303-308
Risultati: 1-9 |