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Results: 1-6 |
Results: 6

Authors: NOWACZYK MJM WHELAN DT HILL RE
Citation: Mjm. Nowaczyk et al., SMITH-LEMLI-OPITZ-SYNDROME - PHENOTYPIC EXTREME WITH MINIMAL CLINICALFINDINGS, American journal of medical genetics, 78(5), 1998, pp. 419-423

Authors: HODES ME AYDANIAN A DLOUHY SR WHELAN DT HESHKA T RONEN G
Citation: Me. Hodes et al., A DE-NOVO MUTATION (C755T, SER252PHE) IN EXON-6 OF THE PROTEOLIPID PROTEIN GENE RESPONSIBLE FOR PELIZAEUS-MERZBACHER-DISEASE, Clinical genetics, 54(3), 1998, pp. 248-249

Authors: HUGGINS MJ SMITH JR CHUN K RAY PN SHAH JK WHELAN DT
Citation: Mj. Huggins et al., ACHONDROPLASIA-HYPOCHONDROPLASIA COMPLEX IN A NEWBORN, American journal of human genetics, 61(4), 1997, pp. 566-566

Authors: TOMKINS DJ ROUX AF WAYE J FREEMAN VCP COX DW WHELAN DT
Citation: Dj. Tomkins et al., MATERNAL UNIPARENTAL ISODISOMY OF HUMAN-CHROMOSOME-14 ASSOCIATED WITHA PATERNAL T(13Q14Q) AND PRECOCIOUS PUBERTY, European journal of human genetics, 4(3), 1996, pp. 153-159

Authors: KAUL R GAO GP MICHALS K WHELAN DT LEVIN S MATALON R
Citation: R. Kaul et al., NOVEL (CYS152-GREATER-THAN-ARG) MISSENSE MUTATION IN AN ARAB PATIENT WITH CANAVAN DISEASE, Human mutation, 5(3), 1995, pp. 269-271

Authors: GOLDSMITH CL SURH LC ZEESMAN S WHELAN DT
Citation: Cl. Goldsmith et al., CAVEATS TO GENETIC-COUNSELING FOR DISEASES WITH DYNAMIC MUTATIONS - MYOTONIC-DYSTROPHY AT ON EXAMPLE, American journal of human genetics, 57(4), 1995, pp. 1624-1624
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