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PubMed 2241452 Recurrent meningitis in a patient with congenital deficiency of the C9 component of complement. First case of C9 deficiency in Europe. We describe the first cases, to our knowledge, of C9 deficiency i 1.26 KB 2016-01-06 15 0
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PubMed 8530105 A 4-megabase YAC contig that spans the Langer-Giedion syndrome region on human chromosome 8q24.1: use in refining the location of the trichorhinophalangeal syndrome and multiple exostoses genes (TRPS1 1.29 KB 2015-11-27 16 0
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PubMed 313733 Hereditary C2 deficiency associated with common variable immunodeficiency. Homozygous C2 deficiency in a 19-year-old boy was associated with variable immunodeficiency manifested by marked hypoimmunogl 618 Bytes 2015-03-12 14 1
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PubMed 8240110 Phenotypic variation including retinitis pigmentosa, pattern dystrophy, and fundus flavimaculatus in a single family with a deletion of codon 153 or 154 of the peripherin/RDS gene. BACKGROUND AND OBJE 1.86 KB 2015-11-27 15 1
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PubMed 8101038 High residual arylsulfatase A (ARSA) activity in a patient with late-infantile metachromatic leukodystrophy. We identified a patient suffering from late-infantile metachromatic leukodystrophy (MLD) wh 1.2 KB 2015-11-27 16 0
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PubMed 14778899 Studies on autonomic blockade. I. Comparison between the effects of tetraethylammonium chloride (TEAC) and high selective spinal anesthesia on blood pressure of normal and toxemic pregnancy. 191 Bytes 2017-10-12 10 1
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PubMed 14396894 Studies of high-molecular placental components in connection with pregnancy toxemia; third paper on placental desoxypentosenucleic acid (DNA). 143 Bytes 2017-10-12 10 2
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PubMed 13398534 Antidiuretic substance (ADS) in normal pregnancy and preeclamptic toxaemia. 76 Bytes 2017-10-12 10 0
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PubMed 14428496 [Serum glutamic-oxalacetic transaminase (SGO-T) in pregnancy toxemias]. 72 Bytes 2015-03-12 5 1
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PubMed 13754785 [Serum enzyme studies in toxicosis. Transaminase (GOT) and lactic acid dehydrogenase (LDH)]. 93 Bytes 2015-11-22 5 1
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