Search Results - "Poplawski, N. K."

Investigating intellectual disability: A genetic perspective by Poplawski, NK

“…:  Intellectual disability (ID) is a common paediatric problem. Investigation focused on determining the aetiology of ID is warranted because a specific…”
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Treatment of late‐onset nonketotic hyperglycinaemia: Effectiveness of imipramine and benzoate by Wiltshire, E. J., Poplawski, N. K., Harrison, J. R., Fletcher, J. M.

“…We report a patient with late‐onset nonketotic hyperglycinaemia managed with a sequential approach to drug therapy in placebo‐controlled therapeutic trials…”
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Passive exposure to tobacco smoke and bacterial meningitis in children by Iles, K, Poplawski, NK, Couper, RTL

“…Objective: To determine whether an association exists between passive exposure to tobacco smoke and bacterial meningitis in childhood, in an Australian…”
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Urine amino and organic acids analysis in developmental delay or intellectual disability by Poplawski, NK, Harrison, JR, Norton, W, Wiltshire, E, Fletcher, JM

“…Objectives:  To determine the proportion of urine amino and organic acids screening tests (UMS) undertaken for patients referred with developmental delay or…”
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Genetic testing and immunohistochemistry for SDHB in phaeochromocytoma-paraganglioma syndromes: the South Australian experience by Poplawski, NK, Rawlings, L, Seymour, J, Vakulin, C, Tirimacco, A, Benn, DE, Gill, AJ

“…Doc number: A60…”
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Ornithine carbamoyltransferase deficiency presenting with chorea in a female by Wiltshire, E. J., Poplawski, N. K., Harbord, M. G., Harrison, R. J., Fletcher, J. M.

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Analysis of CFTR mutation screening in cases of isolated fetal echogenic bowel in the South Australian population by Nicholls, C. M., Nelson, P. V., Poplawski, N. K., Chin, S. J., Fong, B. A., Solly, P. B., Fietz, M. J., Fletcher, J. M.

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Multiple acyl-coenzyme A dehydrogenase deficiency: Diagnosis by acyl-carnitine analysis of a 12-year-old newborn screening card by Poplawski, Nicola K., Ranieri, Enzo, Harrison, J.Rodney, Fletcher, Janice M.

“…We report a family who experienced an unexplained neonatal death. Twelve years after the death, we retrospectively diagnosed multiple acyl-coenzyme A…”
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An international survey of surveillance schemes for unaffected BRCA1 and BRCA2 mutation carriers by Madorsky-Feldman, Dana, Sklair-Levy, Miri, Perri, Tamar, Laitman, Yael, Paluch-Shimon, Shani, Schmutzler, Rita, Rhiem, Kerstin, Lester, Jenny, Karlan, Beth Y., Singer, Christian F., Van Maerken, Tom, Claes, Kathleen, Brunet, Joan, Izquierdo, Angel, Teulé, Alex, Lee, Jong Won, Kim, Sung-Won, Arun, Banu, Jakubowska, Anna, Lubinski, Jan, Tucker, Katherine, Poplawski, Nicola K., Varesco, Liliana, Bonelli, Luigina Ada, Buys, Saundra S., Mitchell, Gillian, Tischkowitz, Marc, Gerdes, Anne-Marie, Seynaeve, Caroline, Robson, Mark, Kwong, Ava, Tung, Nadine, Tessa, Nalven, Domchek, Susan M., Godwin, Andrew K., Rantala, Johanna, Arver, Brita, Friedman, Eitan

“…Female BRCA1 / BRCA2 mutation carriers are at substantially increased risk for developing breast and/or ovarian cancer, and are offered enhanced surveillance…”
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An ethical issue for reproductive technologies by Poplawski, N K

“…The establishment of "new birth technologies" (such as ovulation induction, in vitro fertilization and gamete intrafallopian transfer) has raised many ethical…”
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