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| Genotype–phenotype analysis of TCF4 mutations causing Pitt-Hopkins syndrome shows increased seizure activity with missense mutations JA Rosenfeld, K Leppig, BC Ballif, H Thiese, C Erdie-Lalena, E Bawle, ... Genetics in Medicine 11 (11), 797-805, 2009 | 88 | 2009 |
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| Clinical and molecular delineation of the Greig cephalopolysyndactyly contiguous gene deletion syndrome and its distinction from acrocallosal syndrome JJ Johnston, I Olivos‐Glander, J Turner, K Aleck, LM Bird, L Mehta, ... American Journal of Medical Genetics Part A 123 (3), 236-242, 2003 | 67 | 2003 |
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