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Results: 1-11 |
Results: 11
EVIDENCE FOR A CRYPTIC 46,XX CELL-LINE IN A 45,X 46,X,PSU IDIC(XQ) PATIENT WITH NORMAL REPRODUCTION/
Authors: JAMES RS SHARP AJ COCKWELL AE COPPIN B JACOBS PA
Citation: Rs. James et al., EVIDENCE FOR A CRYPTIC 46,XX CELL-LINE IN A 45,X 46,X,PSU IDIC(XQ) PATIENT WITH NORMAL REPRODUCTION/, Journal of Medical Genetics, 34(12), 1997, pp. 1030-1032
CENTROMERIC INACTIVATION IN A DICENTRIC HUMAN Y-21 TRANSLOCATION CHROMOSOME
Authors: FISHER AM ALGAZALI L PRAMATHAN T QUAIFE R COCKWELL AE BARBER JCK EARNSHAW WC AXELMAN J MIGEON BR TYLERSMITH C
Citation: Am. Fisher et al., CENTROMERIC INACTIVATION IN A DICENTRIC HUMAN Y-21 TRANSLOCATION CHROMOSOME, Chromosoma, 106(4), 1997, pp. 199-206
RAPID IN-SITU HARVESTING AND CYTOGENETIC ANALYSIS OF PERINATAL TISSUESAMPLES
Authors: FISHER AM COCKWELL AE MOORE KJ GREGSON NM CAMPBELL PL CAMPBELL CM HERBERT A BARBER JCK CROLLA JA
Citation: Am. Fisher et al., RAPID IN-SITU HARVESTING AND CYTOGENETIC ANALYSIS OF PERINATAL TISSUESAMPLES, Prenatal diagnosis, 16(7), 1996, pp. 615-621
A CASE OF MATERNAL UNIPARENTAL DISOMY OF CHROMOSOME-9 IN ASSOCIATION WITH CONFINED PLACENTAL MOSAICISM FOR TRISOMY-9
Authors: WILKINSON TA JAMES RS CROLLA JA COCKWELL AE CAMPBELL PL TEMPLE IK
Citation: Ta. Wilkinson et al., A CASE OF MATERNAL UNIPARENTAL DISOMY OF CHROMOSOME-9 IN ASSOCIATION WITH CONFINED PLACENTAL MOSAICISM FOR TRISOMY-9, Prenatal diagnosis, 16(4), 1996, pp. 371-374
CLINICAL OUTCOMES OF ADJACENT-1 SEGREGATION IN A FAMILIAL TRANSLOCATION T(8-18)(P21.3-P11.23)
Authors: COCKWELL AE JAMES RS MOORE IE HATCHWELL E CROLLA JA
Citation: Ae. Cockwell et al., CLINICAL OUTCOMES OF ADJACENT-1 SEGREGATION IN A FAMILIAL TRANSLOCATION T(8-18)(P21.3-P11.23), Journal of Medical Genetics, 33(6), 1996, pp. 515-517
X INACTIVATION ANALYSIS IN A FEMALE WITH HYPOMELANOSIS OF ITO ASSOCIATED WITH A BALANCED X-17 TRANSLOCATION - EVIDENCE FOR FUNCTIONAL DISOMY OF XP
Authors: HATCHWELL E ROBINSON D CROLLA JA COCKWELL AE
Citation: E. Hatchwell et al., X INACTIVATION ANALYSIS IN A FEMALE WITH HYPOMELANOSIS OF ITO ASSOCIATED WITH A BALANCED X-17 TRANSLOCATION - EVIDENCE FOR FUNCTIONAL DISOMY OF XP, Journal of Medical Genetics, 33(3), 1996, pp. 216-220
FURTHER CASE OF TRISOMY-18 MOSAICISM WITH A MILD PHENOTYPE
Authors: COLLINS AL FISHER J CROLLA JA COCKWELL AE
Citation: Al. Collins et al., FURTHER CASE OF TRISOMY-18 MOSAICISM WITH A MILD PHENOTYPE, American journal of medical genetics, 56(1), 1995, pp. 121-122
INCIDENCE OF CIRCULATING CELLS POSITIVE FOR GPIB AND GPIIIA IN INFANTS WITH DOWNS-SYNDROME
Authors: FISHER AM COCKWELL AE JACOBS PA
Citation: Am. Fisher et al., INCIDENCE OF CIRCULATING CELLS POSITIVE FOR GPIB AND GPIIIA IN INFANTS WITH DOWNS-SYNDROME, European journal of haematology, 53(1), 1994, pp. 46-48
GERMLINE AND SOMATIC MOSAICISM IN A FEMALE CARRIER OF DUCHENNE MUSCULAR-DYSTROPHY
Authors: BUNYAN DJ ROBINSON DO COLLINS AL COCKWELL AE BULLMAN HMS WHITTAKER PA
Citation: Dj. Bunyan et al., GERMLINE AND SOMATIC MOSAICISM IN A FEMALE CARRIER OF DUCHENNE MUSCULAR-DYSTROPHY, Human genetics, 93(5), 1994, pp. 541-544
COMPARISON OF THE CLINICAL AND CYTOGENETIC FINDINGS IN 9 PATIENTS WITH A RING-(X) CELL-LINE AND 16 45,X-PATIENTS
Authors: COLLINS AL COCKWELL AE JACOBS PA DENNIS NR
Citation: Al. Collins et al., COMPARISON OF THE CLINICAL AND CYTOGENETIC FINDINGS IN 9 PATIENTS WITH A RING-(X) CELL-LINE AND 16 45,X-PATIENTS, Journal of Medical Genetics, 31(7), 1994, pp. 528-533
3 PATIENTS WITH RING (X)-CHROMOSOMES AND A SEVERE PHENOTYPE
Authors: DENNIS NR COLLINS AL CROLLA JA COCKWELL AE FISHER AM JACOBS PA
Citation: Nr. Dennis et al., 3 PATIENTS WITH RING (X)-CHROMOSOMES AND A SEVERE PHENOTYPE, Journal of Medical Genetics, 30(6), 1993, pp. 482-486
Risultati: 1-11 |