الباحثون

Alice M. George

المنشورات 2

مقال بحثي وصول مفتوح

Clinical Outcomes and Counselling Issues regarding Partial Trisomy of Terminal Xp in a Child with Developmental Delay

Karen L. Sheath, Roberto L. Mazzaschi, Salim Gregersen وآخرون · مجلة جامعة السلطان قابوس الطبية · 2025 · 10.18295/2075-0528.1473

Female carriers of balanced translocations involving an X chromosome and an autosome offer genetic counselling challenges. This is in view of the number of possible meiotic outcomes, but also due to the impact of X chromosome-localised genes that are no longer subject to gene silencing through the X chromosome inactiva …

مقال بحثي وصول مفتوح

Array-based Identification of Copy Number Changes in a Diagnostic Setting: Simultaneous gene-focused and low resolution whole human genome analysis

Renate Marquis-Nicholson, Elaine Doherty, Jennifer M. Lan وآخرون · مجلة جامعة السلطان قابوس الطبية · 2025 · 10.18295/2075-0528.1432

Objectives: The aim of this study was to develop and validate a comparative genomic hybridisation (CGH) array that would allow simultaneous targeted analysis of a panel of disease genes and low resolution whole genome analysis. Methods: A bespoke Roche NimbleGen 12x135K CGH array (Roche NimbleGen Inc., Madison, Wiscons …

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