Search Results - "Girschick, Gundula"
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Prenatal diagnosis of SMPD4 loss ‐ A neurodevelopmental disorder with microcephaly, arthrogryposis and structural brain anomalies
Published in Prenatal diagnosis (01-03-2023)“…SMPD4 loss is a rare neurodevelopmental disorder that leads to severe mental and physical disability and early death in infancy. Most cases of this genetic…”
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Loss of Nephrocystin-3 Function Can Cause Embryonic Lethality, Meckel-Gruber-like Syndrome, Situs Inversus, and Renal-Hepatic-Pancreatic Dysplasia
Published in American journal of human genetics (01-04-2008)“…Many genetic diseases have been linked to the dysfunction of primary cilia, which occur nearly ubiquitously in the body and act as solitary cellular…”
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Umbilical endometriosis without previous pelvic surgery: a case report
Published in Archives of gynecology and obstetrics (01-02-2003)“…A 27-year-old woman with a periodically bleeding out of the umbilicus was found to have umbilical endometriosis. She was never pregnant before and had no…”
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Normalisation of a severely abnormal ductus venosus Doppler flow velocity waveform in a growth-retarded fetus with absent end-diastolic flow in the umbilical artery and congenital anomalies
Published in Journal of perinatal medicine (01-01-2001)“…Doppler recordings of fetal venous blood flow seem to be superior to arterial velocimetry and CTG concerning the prediction of fetal outcome and optimal time…”
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