Phenotypic expansion and further characterisation of the 17q21.31 microdeletion syndrome
Tan, T Y, Aftimos, S, Worgan, L, Susman, R, Wilson, M, Ghedia, S, Kirk, E P, Love, D, Ronan, A, Darmanian, A, Slavotinek, A, Hogue, J, Moeschler, J B, Ozmore, J, Widmer, R, Savarirayan, R, Peters, G
Published in Journal of medical genetics (01.07.2009)
Published in Journal of medical genetics (01.07.2009)
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On the origin of threading dislocations in GaN films
Moram, M. A., Ghedia, C. S., Rao, D. V. S., Barnard, J. S., Zhang, Y., Kappers, M. J., Humphreys, C. J.
Published in Journal of applied physics (01.10.2009)
Published in Journal of applied physics (01.10.2009)
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Periventricular Heterotopia in Common Microdeletion Syndromes
van Kogelenberg, M., Ghedia, S., McGillivray, G., Bruno, D., Leventer, R., MacDermot, K., Nelson, J., Nagarajan, L., Veltman, J.A., de Brouwer, A.P., McKinlay Gardner, R.J., van Bokhoven, H., Kirk, E.P., Robertson, S.P.
Published in Molecular syndromology (01.02.2010)
Published in Molecular syndromology (01.02.2010)
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Haploinsufficiency of ZNF462 is associated with craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay
Weiss, Karin, Wigby, Kristen, Fannemel, Madeleine, Henderson, Lindsay B, Beck, Natalie, Ghali, Neeti, Study, D D D, Anderlid, Britt-Marie, Lundin, Johanna, Hamosh, Ada, Jones, Marilyn C, Ghedia, Sondhya, Muenke, Maximilian, Kruszka, Paul
Published in European journal of human genetics : EJHG (01.08.2017)
Published in European journal of human genetics : EJHG (01.08.2017)
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Familial cerebral cavernous haemangioma diagnosed in an infant with a rapidly growing cerebral lesion
Ng, BHK, Mulyadi, E, Pereira, JK, Ghedia, S, Pinner, J, Mowat, D, Vonau, M
Published in Australasian radiology (01.12.2006)
Published in Australasian radiology (01.12.2006)
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CRANIOFACIAL ANOMALIES, PTOSIS, AGENESIS OF THE CORPUS CALLOSUM, AND DEVELOPMENTAL DELAY ASSOCIATED WITH LOSS OF FUNCTION VARIANTS IN ZNF462 : HUMANS AND ZEBRAFISH
Kruszka, P, Hu, T, Martinez-Agosto, JA, Signer, R, Jurgens, J, Engle, EC, Hartley, T, Boycott, KM, Fannemel, M, Beck, N, Ghali, N, Anderlid, BM, Lundin, J, Ghedia, S, Bartley, CM, Spillmann, RC, Wigby, K, Giltay, JC, van Gassen, KLI, Brigatti, KW, Mazzola, S, Zackai, EH, Hong, SK, Hamosh, A, Jones, MC, Weiss, K, Muenke, M
Published in AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2019)
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Published in AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2019)
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