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Results: 1-6 |
Results: 6

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

Authors: ELLIOTT AM LUDMAN M TEEBI AS
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
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