Authors:
MATSUMOTO N
PILZ DT
FANTES JA
KITTIKAMRON K
LEDBETTER DH
Citation: N. Matsumoto et al., ISOLATION OF BAC CLONES SPANNING THE XQ22.3 TRANSLOCATION BREAKPOINT IN A LISSENCEPHALY PATIENT WITH A DE-NOVO X-2 TRANSLOCATION, Journal of Medical Genetics, 35(10), 1998, pp. 829-832
Authors:
PILZ DT
MACHA ME
PRECHT KS
DOBYNS WB
SMITH ACM
LEDBETTER DH
Citation: Dt. Pilz et al., FISH ANALYSIS IN 100 PATIENTS WITH ISOLATED-LISSENCEPHALY-SEQUENCE (ILS) - LIS1 PROBES SIGNIFICANTLY INCREASE DELETION DETECTION RATE, American journal of human genetics, 61(4), 1997, pp. 162-162
Authors:
TYFIELD LA
STEPHENSON A
COCKBURN F
HARVIE A
BIDWELL JL
WOOD NAP
PILZ DT
HARPER P
SMITH I
Citation: La. Tyfield et al., SEQUENCE VARIATION AT THE PHENYLALANINE-HYDROXYLASE GENE IN THE BRITISH-ISLES, American journal of human genetics, 60(2), 1997, pp. 388-396
Authors:
BARNICOAT AJ
BONNEAU JL
BOYD E
DOCHERTY Z
FENNELL SJ
HURET JL
KING M
MALTBY EL
MCMANUS S
PILZ DT
SHAFEIBENAISSA E
SUPER M
TOLMIE J
Citation: Aj. Barnicoat et al., DOWN-SYNDROME WITH PARTIAL DUPLICATION AND DEL(21) SYNDROME - STUDY PROTOCOL AND CALL FOR COLLABORATION - STUDY-I - CLINICAL-ASSESSMENT, Clinical genetics, 49(1), 1996, pp. 20-27
Authors:
PILZ DT
DALTON A
LONG A
JASPAN T
MALTBY EL
QUARRELL OWJ
Citation: Dt. Pilz et al., DETECTING DELETIONS IN THE CRITICAL REGION FOR LISSENCEPHALY ON 17P13.3 USING FLUORESCENT IN-SITU HYBRIDIZATION AND A PCR ASSAY IDENTIFYINGA DINUCLEOTIDE REPEAT POLYMORPHISM, Journal of Medical Genetics, 32(4), 1995, pp. 275-278