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Validation and implementation of array comparative genomic hybridisation as a first line test in place of postnatal karyotyping for genome imbalance by Docherty Zoe, Hoang Sarah, Shehab Marwa, Walsh Sally, Mann Kathy, Ahn Joo Wook, Mohammed Shehla, Mackie Ogilvie Caroline
Published 2010-04-01
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An isolated case of lissencephaly caused by the insertion of a mitochondrial genome-derived DNA sequence into the 5' untranslated region of the <it>PAFAH1B1 </it>(LIS1) gene by Millar David S, Tysoe Carolyn, Lazarou Lazarus P, Pilz Daniela T, Mohammed Shehla, Anderson Katharine, Chuzhanova Nadia, Cooper David N, Butler Rachel
Published 2010-08-01
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Clinical expression of Menkes disease in females with normal karyotype by Møller Lisbeth, Lenartowicz Malgorzata, Zabot Marie-Therese, Josiane Arnaud, Burglen Lydie, Bennett Chris, Riconda Daniel, Fisher Richard, Janssens Sandra, Mohammed Shehla, Ausems Margreet, Tümer Zeynep, Horn Nina, Jensen Thomas G
Published 2012-01-01
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