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Results: 1-6 |
Results: 6

Authors: DEMEIRLEIR L LISSENS W BENELLI C MARSAC C DEKLERK J SCHOLTE J VANDIGGELEN O KLEIJER W SENECA S LIEBAERS I
Citation: L. Demeirleir et al., PYRUVATE-DEHYDROGENASE COMPLEX DEFICIENCY AND ABSENCE OF SUBUNIT-X, Journal of inherited metabolic disease, 21(1), 1998, pp. 9-16

Authors: VANROYENKERKHOF A POLLTHE BT KLEIJER W VANDIGGELEN OP AERTS JMFG HOPWOOD JJ BEEMER FA
Citation: A. Vanroyenkerkhof et al., COEXISTENCE OF GAUCHER-DISEASE TYPE-1 AND JOUBERT-SYNDROME, Journal of Medical Genetics, 35(11), 1998, pp. 965-966

Authors: TAYEBI N CUSHNER SR KLEIJER W LAU EK DAMSCHRODERWILLIAMS PJ STUBBLEFIELD BK DENHOLLANDER J SIDRANSKY E
Citation: N. Tayebi et al., PRENATAL LETHALITY OF A HOMOZYGOUS NULL MUTATION IN THE HUMAN GLUCOCEREBROSIDASE GENE, American journal of medical genetics, 73(1), 1997, pp. 41-47

Authors: DERKALOUSTIAN VM KLEIJER W BOOTH A AUERBACH AD MAZER B ELLIOTT AM ABISH S USHER R WATTERS G VEKEMANS M EYDOUX P
Citation: Vm. Derkaloustian et al., POSSIBLE NEW VARIANT OF NIJMEGEN BREAKAGE SYNDROME, American journal of medical genetics, 65(1), 1996, pp. 21-26

Authors: VAZKEN M DERKALOUSTIAN MD KLEIJER W VEKEMANS M MAZER B ELLIOTT AM BOOTH A ABISH S EYDOUX P
Citation: M. Vazken et al., A NEW VARIANT OF THE NIJMEGEN BREAKAGE SYNDROME WITH MULTIPLE NONSPECIFIC CHROMOSOMAL-ANOMALIES AND A PARTICULAR PHENOTYPE, American journal of human genetics, 57(4), 1995, pp. 624-624

Authors: BONDESON MLS DAHL N KLEIJER W TONNESEN T GUSTAVSON KH HOPWOOD J PETTERSSON U
Citation: Mls. Bondeson et al., MOLECULAR ANALYSIS OF PATIENTS WITH HUNTER SYNDROME, Cytogenetics and cell genetics, 64(3-4), 1993, pp. 189-189
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