Παρακολούθηση
Usha Kini
Usha Kini
Η διεύθυνση ηλεκτρονικού ταχυδρομείου έχει επαληθευτεί στον τομέα ouh.nhs.uk
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Παρατίθεται από
Έτος
Prevalence and architecture of de novo mutations in developmental disorders
Nature 542 (7642), 433-438, 2017
8802017
Large-scale discovery of novel genetic causes of developmental disorders
Nature 519 (7542), 223-228, 2015
7442015
The longer term outcome of children born to mothers with epilepsy
N Adab, U Kini, J Vinten, J Ayres, G Baker, J Clayton-Smith, H Coyle, ...
Journal of Neurology, Neurosurgery & Psychiatry 75 (11), 1575-1583, 2004
7182004
Factors influencing success of clinical genome sequencing across a broad spectrum of disorders
JC Taylor, HC Martin, S Lise, J Broxholme, JB Cazier, A Rimmer, ...
Nature genetics 47 (7), 717-726, 2015
4022015
Neuropsychological effects of exposure to anticonvulsant medication in utero
J Vinten, N Adab, U Kini, J Gorry, J Gregg, GA Baker
Neurology 64 (6), 949-954, 2005
2732005
Mutations in DDX3X are a common cause of unexplained intellectual disability with gender-specific effects on Wnt signaling
LS Blok, E Madsen, J Juusola, C Gilissen, D Baralle, MRF Reijnders, ...
The American Journal of Human Genetics 97 (2), 343-352, 2015
2702015
C offin–S iris syndrome and the BAF complex: Genotype–phenotype Study in 63 patients
GWE Santen, E Aten, AT Vulto‐van Silfhout, C Pottinger, BWM van Bon, ...
Human mutation 34 (11), 1519-1528, 2013
2292013
Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly
MA Lines, L Huang, J Schwartzentruber, SL Douglas, DC Lynch, ...
The American Journal of Human Genetics 90 (2), 369-377, 2012
2172012
Histone lysine methylases and demethylases in the landscape of human developmental disorders
V Faundes, WG Newman, L Bernardini, N Canham, J Clayton-Smith, ...
The American Journal of Human Genetics 102 (1), 175-187, 2018
2052018
Ribosomal protein SA haploinsufficiency in humans with isolated congenital asplenia
A Bolze, N Mahlaoui, M Byun, B Turner, N Trede, SR Ellis, A Abhyankar, ...
Science 340 (6135), 976-978, 2013
1962013
Update on Kleefstra syndrome
MH Willemsen, AT Vulto-van Silfhout, WM Nillesen, WM Wissink-Lindhout, ...
Molecular syndromology 2 (3-5), 202-212, 2012
1912012
Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP–HHT syndrome
C Gallione, AS Aylsworth, J Beis, T Berk, B Bernhardt, RD Clark, ...
American journal of medical genetics Part A 152 (2), 333-339, 2010
1812010
Effects of fetal antiepileptic drug exposure: outcomes at age 4.5 years
KJ Meador, GA Baker, N Browning, MJ Cohen, RL Bromley, ...
Neurology 78 (16), 1207-1214, 2012
1602012
Pregnancy with epilepsy: obstetric and neonatal outcome of a controlled study
G Mawer, M Briggs, GA Baker, R Bromley, H Coyle, J Eatock, L Kerr, ...
Seizure 19 (2), 112-119, 2010
1542010
Outcome of pregnancy in women attending an outpatient epilepsy clinic: adverse features associated with higher doses of sodium valproate
G Mawer, J Clayton-Smith, H Coyle, U Kini
Seizure 11 (8), 512-518, 2002
1542002
TBC1D24 genotype–phenotype correlation: Epilepsies and other neurologic features
S Balestrini, M Milh, C Castiglioni, K Lüthy, MJ Finelli, P Verstreken, ...
Neurology 87 (1), 77-85, 2016
1192016
Mutations in the HECT domain of NEDD4L lead to AKT–mTOR pathway deregulation and cause periventricular nodular heterotopia
L Broix, H Jagline, E L Ivanova, S Schmucker, N Drouot, J Clayton-Smith, ...
Nature genetics 48 (11), 1349-1358, 2016
1142016
Mutations in PGAP3 impair GPI-anchor maturation, causing a subtype of hyperphosphatasia with mental retardation
MF Howard, Y Murakami, AT Pagnamenta, C Daumer-Haas, B Fischer, ...
The American Journal of Human Genetics 94 (2), 278-287, 2014
1102014
Dysmorphic features: an important clue to the diagnosis and severity of fetal anticonvulsant syndromes
U Kini, N Adab, J Vinten, A Fryer, J Clayton-Smith
Archives of Disease in Childhood-Fetal and Neonatal Edition 91 (2), F90-F95, 2006
1092006
Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene
V Conti, A Carabalona, E Pallesi-Pocachard, E Parrini, RJ Leventer, ...
Brain 136 (11), 3378-3394, 2013
1002013
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