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Results: 1-7 |
Results: 7
PRADER-WILLI AND ANGELMAN-SYNDROMES - DIAGNOSIS WITH A BISULFITE-TREATED METHYLATION-SPECIFIC PCR METHOD
Authors: KOSAKI K MCGINNISS MJ VERAKSA AN MCGINNIS WJ JONES KL
Citation: K. Kosaki et al., PRADER-WILLI AND ANGELMAN-SYNDROMES - DIAGNOSIS WITH A BISULFITE-TREATED METHYLATION-SPECIFIC PCR METHOD, American journal of medical genetics, 73(3), 1997, pp. 308-313
RING CHROMOSOME-X IN A CHILD WITH MANIFESTATIONS OF KABUKI-SYNDROME
Authors: MCGINNISS MJ BROWN DH BURKE LW MASCARELLO JT JONES MC
Citation: Mj. Mcginniss et al., RING CHROMOSOME-X IN A CHILD WITH MANIFESTATIONS OF KABUKI-SYNDROME, American journal of medical genetics, 70(1), 1997, pp. 37-42
CONGENITAL ADRENAL-HYPERPLASIA PRESENTING AS MASSIVE ADRENAL INCIDENTALOMAS IN THE 6TH DECADE OF LIFE - REPORT OF 2 PATIENTS WITH ALPHA-HYDROXYLASE DEFICIENCY
Authors: RAVICHANDRAN R LAFFERTY F MCGINNISS MJ TAYLOR HC
Citation: R. Ravichandran et al., CONGENITAL ADRENAL-HYPERPLASIA PRESENTING AS MASSIVE ADRENAL INCIDENTALOMAS IN THE 6TH DECADE OF LIFE - REPORT OF 2 PATIENTS WITH ALPHA-HYDROXYLASE DEFICIENCY, The Journal of clinical endocrinology and metabolism, 81(5), 1996, pp. 1776-1779
A NOVEL MUTATION AT THE INVARIANT ACCEPTOR SPLICE-SITE OF INTRON-9 INTHE HEXA GENE [IVS9-1-G-]T] DETECTED BY A PCR-BASED DIAGNOSTIC-TEST
Authors: BROWN DH TRIGGSRAINE BL MCGINNISS MJ KABACK MM
Citation: Dh. Brown et al., A NOVEL MUTATION AT THE INVARIANT ACCEPTOR SPLICE-SITE OF INTRON-9 INTHE HEXA GENE [IVS9-1-G-]T] DETECTED BY A PCR-BASED DIAGNOSTIC-TEST, Human mutation, 5(2), 1995, pp. 173-174
ECUMENICAL FAITH IN EVANGELICAL PERSPECTIVE - FACKRE,G
Authors: MCGINNISS MJ
Citation: Mj. Mcginniss, ECUMENICAL FAITH IN EVANGELICAL PERSPECTIVE - FACKRE,G, Journal of ecumenical studies, 31(1-2), 1994, pp. 158-159
SEVERE HEMOPHILIA-A IN A FEMALE BY CRYPTIC TRANSLOCATION - ORDER AND ORIENTATION OF FACTOR-VIII WITHIN XQ28 (VOL 16, PG 20, 1993)
Authors: MIGEON BR MCGINNISS MJ ANTONARAKIS SE AXELMAN J STASIOWSKI BA YOUSSOUFIAN H KEARNS WG CHUNG A PEARSON PL KAZAZIAN HH MUNEER RS
Citation: Br. Migeon et al., SEVERE HEMOPHILIA-A IN A FEMALE BY CRYPTIC TRANSLOCATION - ORDER AND ORIENTATION OF FACTOR-VIII WITHIN XQ28 (VOL 16, PG 20, 1993), Genomics, 16(3), 1993, pp. 792-792
UNBALANCED TRANSLOCATION, T(18 21), DETECTED BY FLUORESCENCE IN-SITU HYBRIDIZATION (FISH) IN A CHILD WITH 18Q-SYNDROME AND A RING CHROMOSOME-21
Authors: MCGINNISS MJ ROSENBERG C STETTEN G SCHINZEL AA BINKERT F PETERSEN MB KEARNS WG KAZAZIAN HH PEARSON PL ANTONARAKIS SE
Citation: Mj. Mcginniss et al., UNBALANCED TRANSLOCATION, T(18 21), DETECTED BY FLUORESCENCE IN-SITU HYBRIDIZATION (FISH) IN A CHILD WITH 18Q-SYNDROME AND A RING CHROMOSOME-21, American journal of medical genetics, 46(6), 1993, pp. 647-651
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