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‘Next Generation Sequencing’ as a diagnostic tool in paediatrics
by
Baralle, Diana
,
Ismail, Vardha
Published in
Archives of disease in childhood
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Identification and functional evaluation of GRIA1 missense and truncation variants in individuals with ID: An emerging neurodevelopmental syndrome
by
Ismail, Vardha
,
Zachariassen, Linda G
,
Godwin, Annie
,
Sahakian, Mane
,
Ellard, Sian
,
Stals, Karen L
,
Baple, Emma
,
Brown, Kate Tatton
,
Foulds, Nicola
,
Wheway, Gabrielle
,
Parker, Matthew O
,
Lyngby, Signe M
,
Pedersen, Miriam G
,
Desir, Julie
,
Bayat, Allan
,
Musgaard, Maria
,
Guille, Matthew
,
Kristensen, Anders S
,
Baralle, Diana
Published in
American journal of human genetics
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