1,721,175 research outputs found
An attempt to demonstrate gene dosage effect for beta-glucuronidase in monosomy 7 patients
No full textGene dosage effect for beta-glucuronidase (GUSB) in monosomy 7 cells of patients with myeloproliferative disorders
No full textE, Danesino C, Pasquali F, Nicolis E, Cesaro S, Perobelli S. The Italian SDS registry (RI-SDS): evolution form 1999.Proceedings of 8th International Congress on Shwachman-Diamond Syndrome, page 44. Verona 17-20 April 2016
No full textSurvival Analysis of italian registry of SDS patient
A case of multiple intestinal atresias, brain anomalies, mental retardation, growth hormone deficiency and clitoris hypertrophy.
No full textPrognostic factors for late-onset Pompe disease with enzyme replacement therapy: the two sides of low BMI.
No full textInfluence of additional chromosome anomalies on gene dosage effect for phosphoserine phosphatase in cells with acquired monosomy 7.
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