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Results: 1-10 |
Results: 10
A NEW PATIENT WITH TRISOMY 1Q(Q42-QTER) - EVIDENCE FOR A CONSISTENT PHENOTYPE
Authors: MORAVA E TSIEN F JACKSON KE MARBLE M
Citation: E. Morava et al., A NEW PATIENT WITH TRISOMY 1Q(Q42-QTER) - EVIDENCE FOR A CONSISTENT PHENOTYPE, Journal of investigative medicine, 46(1), 1998, pp. 9-9
REPORT OF A NEW PATIENT WITH TRANSPOSITION OF THE GREAT-ARTERIES WITHDELETION OF 22Q11.2
Authors: MARBLE M MORAVA E LOPEZ R PIERCE M PIERCE R
Citation: M. Marble et al., REPORT OF A NEW PATIENT WITH TRANSPOSITION OF THE GREAT-ARTERIES WITHDELETION OF 22Q11.2, American journal of medical genetics, 78(4), 1998, pp. 317-318
SUBGLOTTIC WEB IN A MOTHER AND SON WITH 22Q11.2 DELETION
Authors: MARBLE M MORAVA E TSIEN F AMEDEE R PIERCE M
Citation: M. Marble et al., SUBGLOTTIC WEB IN A MOTHER AND SON WITH 22Q11.2 DELETION, American journal of medical genetics, 75(5), 1998, pp. 537-537
SCALP DEFECTS, MICROCEPHALY AND CHARACTERISTIC FACIES - A NEW SYNDROME
Authors: MARBLE M PRIDJIAN G
Citation: M. Marble et G. Pridjian, SCALP DEFECTS, MICROCEPHALY AND CHARACTERISTIC FACIES - A NEW SYNDROME, American journal of human genetics, 61(4), 1997, pp. 595-595
CONGENITAL ANOPHTHALMIA, AN OVERVIEW OF 11 PATIENTS
Authors: KOZICZ EM JACKSON KE MARBLE M ANDERSSON HC SHAPIRA E
Citation: Em. Kozicz et al., CONGENITAL ANOPHTHALMIA, AN OVERVIEW OF 11 PATIENTS, American journal of human genetics, 61(4), 1997, pp. 605-605
A PATIENT WITH TRISOMY 9P DUE TO A PSEUDODICENTRIC DERIVATIVE CHROMOSOME-21 RESULTING FROM A NOVEL TRANSLOCATION (9-21) INVOLVING THE SATELLITE REGION (9PTER-]Q12-21PTER-]21QTER)
Authors: TSIEN F MARBLE M VARELA M
Citation: F. Tsien et al., A PATIENT WITH TRISOMY 9P DUE TO A PSEUDODICENTRIC DERIVATIVE CHROMOSOME-21 RESULTING FROM A NOVEL TRANSLOCATION (9-21) INVOLVING THE SATELLITE REGION (9PTER-]Q12-21PTER-]21QTER), American journal of human genetics, 57(4), 1995, pp. 727-727
CHARACTERIZATION OF A CYSTATHIONINE BETA-SYNTHASE ALLELE WITH 3 MUTATIONS IN CIS IN A PATIENT WITH B-6 NONRESPONSIVE HOMOCYSTINURIA
Authors: MARBLE M GERAGHTY MT DEFRANCHIS R KRAUS JP VALLE D
Citation: M. Marble et al., CHARACTERIZATION OF A CYSTATHIONINE BETA-SYNTHASE ALLELE WITH 3 MUTATIONS IN CIS IN A PATIENT WITH B-6 NONRESPONSIVE HOMOCYSTINURIA, Human molecular genetics, 3(10), 1994, pp. 1883-1886
THE ISOLATION OF CDNAS FROM OATL1 AT XP11.2 USING A 480-KB YAC
Authors: GERAGHTY MT BRODY LC MARTIN LS MARBLE M KEARNS W PEARSON P MONACO AP LEHRACH H VALLE D
Citation: Mt. Geraghty et al., THE ISOLATION OF CDNAS FROM OATL1 AT XP11.2 USING A 480-KB YAC, Genomics, 16(2), 1993, pp. 440-446
PROFOUND OBSTRUCTIVE SLEEP-APNEA AS A COMPLICATION OF JUVENILE HYALINE FIBROMATOSIS
Authors: JABRA A MARBLE M FRANCOMANO C
Citation: A. Jabra et al., PROFOUND OBSTRUCTIVE SLEEP-APNEA AS A COMPLICATION OF JUVENILE HYALINE FIBROMATOSIS, American journal of human genetics, 53(3), 1993, pp. 457-457
A CYSTATHIONINE BETA-SYNTHASE (CBS) ALLELE WITH 3 MUTATIONS IN CIS INA P ATIENT WITH B6-NONRESPONSIVE HOMOCYSTINURIA
Authors: MARBLE M GERAGHTY MT DEFRANCHIS R KRAUS J VALLE D
Citation: M. Marble et al., A CYSTATHIONINE BETA-SYNTHASE (CBS) ALLELE WITH 3 MUTATIONS IN CIS INA P ATIENT WITH B6-NONRESPONSIVE HOMOCYSTINURIA, American journal of human genetics, 53(3), 1993, pp. 925-925
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