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Author/Creator Mountford, Hayley S.

1. A family study implicates GBE1 in the etiology of autism spectrum disorder. Issue 1 (21st October 2021)

Authors:
Fanjul‐Fernández, Miriam; Brown, Natasha J.; Hickey, Peter; Diakumis, Peter; Rafehi, Haloom; Bozaoglu, Kiymet; Green, Cherie C.; Rattray, Audrey; Young, Savannah; Alhuzaimi, Dana; Mountford, Hayley S.; Gillies, Greta; Lukic, Vesna; Vick, Tanya; Finlay, Keri; Coe, Bradley P.; Eichler, Evan E.; Del...
Journal:
Human mutation
Issue:
Volume 43:Issue 1(2022)
Page Start:
16
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

3. Copy number variation burden does not predict severity of neurodevelopmental phenotype in children with a sex chromosome trisomy. Issue 2 (26th May 2020)

Authors:
Mountford, Hayley S.; Bishop, Dorothy V. M.; Thompson, Paul A.; Simpson, Nuala H.; Newbury, Dianne F.
Other Names:
Gravholt Claus H. guestEditor.; Tartaglia Nicole guestEditor.; Disteche Christine guestEditor.
Journal:
American journal of medical genetics
Issue:
Volume 184:Issue 2(2020)
Page Start:
256
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

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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Available online (eLD content is only available in our Reading Rooms) ↗