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Author/Creator Friend, Kathryn

2. Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study. Issue 12 (December 2015)

Authors:
Mirzaa, Ghayda M; Conti, Valerio; Timms, Andrew E; Smyser, Christopher D; Ahmed, Sarah; Carter, Melissa; Barnett, Sarah; Hufnagel, Robert B; Goldstein, Amy; Narumi-Kishimoto, Yoko; Olds, Carissa; Collins, Sarah; Johnston, Kathreen; Deleuze, Jean-François; Nitschké, Patrick; Friend, Kathryn; Harri...
Journal:
Lancet neurology
Issue:
Volume 14:Issue 12(2015:Dec.)
Page Start:
1182
Record Type:
Journal Article
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3. Epilepsy with cognitive deficit and autism spectrum disorders: Prospective diagnosis by array CGH123. Issue 1 (26th November 2012)

Authors:
Nicholl, Jillian; Waters, Wendy; Suwalski, Shanna; Brown, Sue; Hull, Yvonne; Harbord, Michael G.; Entwistle, John; Thompson, Suzanna; Clark, Damian; Pridmore, Claire; Haan, Eric; Barnett, Christopher; McGregor, Lesley; Liebelt, Jan; Thompson, Elizabeth M.; Friend, Kathryn; Bain, Sharon M.; Yu, Su...
Journal:
American journal of medical genetics
Issue:
Volume 162:Issue 1(2013)
Page Start:
24
Record Type:
Journal Article
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4. Phenotypic variation of TTC19‐deficient mitochondrial complex III deficiency: A case report and literature review. (21st April 2015)

Authors:
Mordaunt, Dylan A.; Jolley, Alexandra; Balasubramaniam, Shanti; Thorburn, David R.; Mountford, Hayley S.; Compton, Alison G.; Nicholl, Jillian; Manton, Nicholas; Clark, Damian; Bratkovic, Drago; Friend, Kathryn; Yu, Sui
Journal:
American journal of medical genetics
Issue:
Volume 167:Number 6(2015:Jun.)
Page Start:
1330
Record Type:
Journal Article
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5. Targeted Next‐Generation Sequencing Analysis of 1, 000 Individuals with Intellectual Disability. Issue 12 (30th September 2015)

Authors:
Grozeva, Detelina; Carss, Keren; Spasic‐Boskovic, Olivera; Tejada, Maria‐Isabel; Gecz, Jozef; Shaw, Marie; Corbett, Mark; Haan, Eric; Thompson, Elizabeth; Friend, Kathryn; Hussain, Zaamin; Hackett, Anna; Field, Michael; Renieri, Alessandra; Stevenson, Roger; Schwartz, Charles; Floyd, James A.B.; ...
Journal:
Human mutation
Issue:
Volume 36:Issue 12(2015:Dec.)
Page Start:
1197
Record Type:
Journal Article
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6. Unraveling the pathogenesis of ARX polyalanine tract variants using a clinical and molecular interfacing approach. Issue 3 (25th February 2015)

Authors:
Marques, Isabel; Sá, Maria João; Soares, Gabriela; Mota, Maria do Céu; Pinheiro, Carla; Aguiar, Lisa; Amado, Marta; Soares, Christina; Calado, Angelina; Dias, Patrícia; Sousa, Ana Berta; Fortuna, Ana Maria; Santos, Rosário; Howell, Katherine B.; Ryan, Monique M.; Leventer, Richard J; Sachdev, Ran...
Journal:
Molecular genetics & genomic medicine
Issue:
Volume 3:Issue 3(2015:May)
Page Start:
203
Record Type:
Journal Article
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