Authors:
BYERS PH
DUVIC M
ATKINSON M
ROBINOW M
SMITH LT
KRANE SM
GREALLY MT
LUDMAN M
MATALON R
PAUKER S
QUANBECK D
SCHWARZE U
Citation: Ph. Byers et al., EHLERS-DANLOS-SYNDROME TYPE VIIA AND VIIB RESULT FROM SPLICE-JUNCTIONMUTATIONS OR GENOMIC DELETIONS THAT INVOLVE EXON-6 IN THE COL1A1 AND COL1A2 GENES OF TYPE-I COLLAGEN, American journal of medical genetics, 72(1), 1997, pp. 94-105
Authors:
COULTERMACKIE MB
GAGNIER L
BEIS MJ
LUDMAN M
Citation: Mb. Coultermackie et al., MULTIPLE METACHROMATIC LEUKODYSTROPHY ALLELES IN A CLINICALLY NORMAL-CHILD, American journal of human genetics, 61(4), 1997, pp. 1450-1450
Citation: Am. Elliott et al., NEW SYNDROME - MCA MR SYNDROME WITH MULTIPLE CIRCUMFERENTIAL SKIN CREASES/, American journal of medical genetics, 62(1), 1996, pp. 23-25
Authors:
COULTERMACKIE MB
APPLEGARTH DA
TOONE J
VALLANCE H
RIP J
LUDMAN M
BEIS J
Citation: Mb. Coultermackie et al., ARYLSULFATASE-A PSEUDODEFICIENCY IN FAMILIES AT RISK FOR METACHROMATIC LEUKODYSTROPHY, American journal of human genetics, 57(4), 1995, pp. 1014-1014
Authors:
GAGNIER L
COULTERMACKIE MB
RIP J
LUDMAN M
BEIS J
COLE DEC
Citation: L. Gagnier et al., METACHROMATIC LEUKODYSTROPHY IN A CHILD WITH A RING CHROMOSOME-22, American journal of human genetics, 57(4), 1995, pp. 1225-1225
Authors:
GORDON K
RIDING M
CAMFIELD P
BAWDEN H
LUDMAN M
BAGNELL P
Citation: K. Gordon et al., CT AND MR OF 3-HYDROXY-3-METHYLGLUTARYL-COENZYME A LYASE DEFICIENCY, American journal of neuroradiology, 15(8), 1994, pp. 1474-1476