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Donncha Hanrahan
Observed names:
D. Hanrahan,
DONNCHA HANRAHAN
Institution:
Royal Belfast Hospital for Sick Children
Observed institution:
Royal Belfast Hospital for Sick Children
OpenAlex ID:
A5076097488
Characterization of human disease phenotypes associated with mutations in TREX1 , RNASEH2A , RNASEH2B , RNASEH2C , SAMHD1 , ADAR , and IFIH1
2015
·
Yanick J. Crow
, Diana S. Chase
, et al.
·
American Journal of Medical Genetics Part A
·
597
PDF
The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications
2022
·
Andreas Brunklaus
, Tobias Brünger
, et al.
·
Brain
·
166
PDF
SURF1 deficiency: a multi-centre natural history study
2013
·
Yehani Wedatilake
, Ruth M Brown
, et al.
·
Orphanet Journal of Rare Diseases
·
139
PDF
Elevated VGKC-complex antibodies in a boy with fever-induced refractory epileptic encephalopathy in school-age children (FIRES)
2011
·
MARJORIE A ILLINGWORTH
, DONNCHA HANRAHAN
, et al.
·
Developmental Medicine & Child Neurology
·
59
PDF
Towards the identification of a genetic basis for L andau‐ K leffner s yndrome
2014
·
Judith Conroy
, Paul A. McGettigan
, et al.
·
Epilepsia
·
57
Adjustment in children with intractable epilepsy: importance of seizure duration and family factors
2002
·
Christopher G McCusker
, Patrick John Kennedy
, et al.
·
Developmental Medicine & Child Neurology
·
54
Milder phenotypes of glucose transporter type 1 deficiency syndrome
2011
·
GEETHA ANAND
, ANURUDDHA PADENIYA
, et al.
·
Developmental Medicine & Child Neurology
·
21
PDF
Friedreich Ataxia in Classical Galactosaemia
2015
·
Siobhán Neville
, Siobhan O’Sullivan
, et al.
·
JIMD Reports
·
5
11-year-old boy with reduced vision and painful red eyes
2025
·
Callum McLoughlin
, Sheila Callaghan
, et al.
·
Archives of Disease in Childhood Education & Practice
·
1
Answers to Epilogue
2015
·
Helen Elizabeth Groves
, Sharon Christie
, et al.
·
Archives of Disease in Childhood Education & Practice
An interesting case of ptosis in an infant
2015
·
Helen Elizabeth Groves
, Sharon Christie
, et al.
·
Archives of Disease in Childhood Education & Practice
PDF
SURF1 deficiency: Natural history study of a UK cohort
2012
·
Y. Wedatilake
, R. M. Brown
, et al.
·
Nova Science Publishers (Nova Science Publishers, Inc.)
Cardiac Failure Secondary to a Large Vein of Galen Malformation in a Newborn
2008
·
Ashwini Mallappa
, A M Chisakuta
, et al.
·
Archives of Disease in Childhood
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Works count:
13
Citation count:
1,099
H-index:
7
I10-index:
7
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