15 research outputs found
A prenatally diagnosed case of Meckel–Gruber syndrome with novel compound heterozygous pathogenic variants in the TXNDC15
No full textClinicopathologic conference: multiple fetal demises, lactic acidosis and hepatic iron accumulation
No full textTo access publisher full text version of this article. Please click on the hyperlink in Additional Links fieldABSTRACT A case of a premature infant with lactic acidosis and hepatic iron accumulation, born to a mother with multiple fetal demises, is presented and discussed by both clinician and pathologist, in this traditional clinico-pathologic conference. The discussion includes the differential diagnoses of lactic acidosis and hepatic iron accumulation in infants
Comparison of an Isoelectric Focusing Technique and High-Performance Liquid Chromatography for Determination of Fetal Hemoglobin Levels
No full textSirenomelia sequence according to the distance between the first sacral vertebra and the ilia
No full textA morphometric study to establish criteria for fetal and neonatal cerebellar hypoplasia: A special emphasis on trisomy 18
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DISCORDANT OMPHALOCELE-EXSTROPHY-IMPERFORATE ANUS-SPINAL DEFECTS (OEIS) COMPLEX AND CARDIAC MALFORMATIONS IN MONOCHORIONIC TWINS
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