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MYOTUBULAR MYOPATHY - MORPHOLOGICAL, IMMUNOHISTOCHEMICAL AND CLINICALVARIATION
Authors: HELLIWELL TR ELLIS IH APPLETON RE
Citation: Tr. Helliwell et al., MYOTUBULAR MYOPATHY - MORPHOLOGICAL, IMMUNOHISTOCHEMICAL AND CLINICALVARIATION, Neuromuscular disorders, 8(3-4), 1998, pp. 152-161
3 SIBS WITH MICROCEPHALY, CONGENITAL HEART-DISEASE, LUNG SEGMENTATIONDEFECTS AND UNILATERAL ABSENT KIDNEY - A NEW RECESSIVE MULTIPLE CONGENITAL ANOMALY (MCA) SYNDROME
Authors: ELLIS IH YALE C THOMAS R GARRETT C WINTER RM
Citation: Ih. Ellis et al., 3 SIBS WITH MICROCEPHALY, CONGENITAL HEART-DISEASE, LUNG SEGMENTATIONDEFECTS AND UNILATERAL ABSENT KIDNEY - A NEW RECESSIVE MULTIPLE CONGENITAL ANOMALY (MCA) SYNDROME, Clinical dysmorphology, 5(2), 1996, pp. 129-134
FURTHER INVESTIGATION OF THE HEXA GENE INTRON-9 DONOR SPLICE-SITE MUTATION FREQUENTLY FOUND IN NON-JEWISH TAY-SACHS-DISEASE PATIENTS FROM THE BRITISH-ISLES
Authors: LANDELS EC GREEN PM ELLIS IH FENSOM AH KABACK MM LIMSTEELE J ZEIGER K LEVY N BOBROW M
Citation: Ec. Landels et al., FURTHER INVESTIGATION OF THE HEXA GENE INTRON-9 DONOR SPLICE-SITE MUTATION FREQUENTLY FOUND IN NON-JEWISH TAY-SACHS-DISEASE PATIENTS FROM THE BRITISH-ISLES, Journal of Medical Genetics, 30(6), 1993, pp. 479-481
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