AAAAAA

   
Results: 1-9 |
Results: 9
TREACHER-COLLINS SYNDROME - PHENOTYPIC VARIABILITY IN A FAMILY INCLUDING AN INFANT WITH ARHINIA AND UVEAL COLOBOMAS
Authors: HANSEN M LUCARELLI MJ WHITEMAN DAH MULLIKEN JB
Citation: M. Hansen et al., TREACHER-COLLINS SYNDROME - PHENOTYPIC VARIABILITY IN A FAMILY INCLUDING AN INFANT WITH ARHINIA AND UVEAL COLOBOMAS, American journal of medical genetics, 61(1), 1996, pp. 71-74
CEREBROVASCULAR COMPLICATIONS IN EHLERS-DANLOS SYNDROME TYPE-IV
Authors: NORTH KN WHITEMAN DAH PEPIN MG BYERS PH
Citation: Kn. North et al., CEREBROVASCULAR COMPLICATIONS IN EHLERS-DANLOS SYNDROME TYPE-IV, Annals of neurology, 38(6), 1995, pp. 960-964
IDENTICAL-TWINS WITH COHEN SYNDROME
Authors: NORTH KN FULTON AB WHITEMAN DAH
Citation: Kn. North et al., IDENTICAL-TWINS WITH COHEN SYNDROME, American journal of medical genetics, 58(1), 1995, pp. 54-58
CHARGE ASSOCIATION IN A CHILD WITH DE-NOVO INVERTED DUPLICATION (14)(Q22-]Q24.3)
Authors: NORTH KN WU BL CAO BN WHITEMAN DAH KORF BR
Citation: Kn. North et al., CHARGE ASSOCIATION IN A CHILD WITH DE-NOVO INVERTED DUPLICATION (14)(Q22-]Q24.3), American journal of medical genetics, 57(4), 1995, pp. 610-614
CHROMOSOME 20P DELETIONS - MOLECULAR CYTOGENETIC ANALYSIS AND CORRELATION WITH PHENOTYPE
Authors: MULLA WR KLINE R GENIN A WHITEMAN DAH JONES MC RAND EB HANNA JS SPINNER NB
Citation: Wr. Mulla et al., CHROMOSOME 20P DELETIONS - MOLECULAR CYTOGENETIC ANALYSIS AND CORRELATION WITH PHENOTYPE, American journal of human genetics, 57(4), 1995, pp. 677-677
HOMOZYGOSITY MAPPING OF A BARDET-BIEDL SYNDROME GENE IN INBRED FAMILIES OF PUERTO-RICAN ANCESTRY CONFIRMS THE EXISTENCE OF A CHROMOSOME-11 LOCUS
Authors: CORNIER AS FULTON AB ROKHLINA T NISHIMURA D STONE EM SHEFFIELD VC WHITEMAN DAH COX GF
Citation: As. Cornier et al., HOMOZYGOSITY MAPPING OF A BARDET-BIEDL SYNDROME GENE IN INBRED FAMILIES OF PUERTO-RICAN ANCESTRY CONFIRMS THE EXISTENCE OF A CHROMOSOME-11 LOCUS, American journal of human genetics, 57(4), 1995, pp. 1086-1086
GENETIC-HETEROGENEITY AMONG CRANIOSYNOSTOSIS SYNDROMES - MAPPING THE SAETHRE-CHOTZEN SYNDROME LOCUS BETWEEN D7S513 AND D7S516 AND EXCLUSIONOF JACKSON-WEISS AND CROUZON SYNDROME LOCI FROM 7P
Authors: LEWANDA AF COHEN MM JACKSON CE TAYLOR EW LI X BELOFF M DAY D CLARREN SK ORTIZ R GARCIA C HAUSELMAN E FIGUEROA A WULFSBERG E WILSON M WARMAN ML PADWA BL WHITEMAN DAH MULLIKEN JB JABS EW
Citation: Af. Lewanda et al., GENETIC-HETEROGENEITY AMONG CRANIOSYNOSTOSIS SYNDROMES - MAPPING THE SAETHRE-CHOTZEN SYNDROME LOCUS BETWEEN D7S513 AND D7S516 AND EXCLUSIONOF JACKSON-WEISS AND CROUZON SYNDROME LOCI FROM 7P, Genomics, 19(1), 1994, pp. 115-119
MOLECULAR CHARACTERIZATION OF CYTOGENETIC ALTERATIONS ASSOCIATED WITHTHE BECKWITH-WIEDEMANN SYNDROME (BWS) PHENOTYPE REFINES THE LOCALIZATION AND SUGGESTS THE GENE FOR BWS IS IMPRINTED
Authors: WEKSBERG R TESHIMA I WILLIAMS BRG GREENBERG CR PUESCHEL SM CHERNOS JE FOWLOW SB HOYME E ANDERSON IJ WHITEMAN DAH FISHER N SQUIRE J
Citation: R. Weksberg et al., MOLECULAR CHARACTERIZATION OF CYTOGENETIC ALTERATIONS ASSOCIATED WITHTHE BECKWITH-WIEDEMANN SYNDROME (BWS) PHENOTYPE REFINES THE LOCALIZATION AND SUGGESTS THE GENE FOR BWS IS IMPRINTED, Human molecular genetics, 2(5), 1993, pp. 549-556
FOLATE-DEFICIENCY AND ACUTE INTERMITTENT PORPHYRIA IN A 12-YEAR-OLD BOY
Authors: DIMARIO FJ QUINN JJ ZALNERAITIS EL WHITEMAN DAH RUSSMAN BS
Citation: Fj. Dimario et al., FOLATE-DEFICIENCY AND ACUTE INTERMITTENT PORPHYRIA IN A 12-YEAR-OLD BOY, Neurology, 43(7), 1993, pp. 1438-1439
Risultati: 1-9 |