8 results on '"Tinschert S"'
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2. Macrocephaly, obesity, mental (intellectual) disability, and ocular abnormalities: Alternative definition and further delineation of MOMO syndrome
3. A new autosomal dominant syndrome of distinctive face showing ptosis and prominent eyes associated with cleft palate, ear anomalies, and learning disability
4. Three‐generational alkaptonuria in a non‐consanguineous family
5. Spectrum of single‐ and multiexon NF1 copy number changes in a cohort of 1,100 unselected NF1 patients
6. Fetal trisomy 10 mosaicism: ultrasound, cytogenetic and morphologic findings in early pregnancy
7. Routine applications of DNA fingerprinting with the oligonucleotide probe (CAC)5/(GTG)5
8. Zunich neuroectodermal syndrome: migratory ichthyosiform dermatosis, colobomas, and other abnormalities.
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