Omar Khwaja
Omar Khwaja
Voyager Therapeutics
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Citata da
Citata da
Pathogenesis of cerebral white matter injury of prematurity
O Khwaja, JJ Volpe
Archives of Disease in Childhood-Fetal and Neonatal Edition 93 (2), F153-F161, 2008
Microdeletion/duplication at 15q13. 2q13. 3 among individuals with features of autism and other neuropsychiatric disorders
DT Miller, Y Shen, LA Weiss, J Korn, I Anselm, C Bridgemohan, GF Cox, ...
Journal of medical genetics 46 (4), 242-248, 2009
The role of a clinical score in the assessment of ambiguous genitalia
SF Ahmed, O Khwaja, IA Hughes
BJU international 85 (1), 120-124, 2000
The Drosophila Developmental Gene Fat Facets Has a Human Homologue in Xp11.4 Which Escapes X-inactivation and Has Related Sequences on Yq11.2
MH Jones, RA Furlong, H Burkin, I Jennifer Chalmers, GM Brown, ...
Human molecular genetics 5 (11), 1695-1701, 1996
Safety, pharmacokinetics, and preliminary assessment of efficacy of mecasermin (recombinant human IGF-1) for the treatment of Rett syndrome
OS Khwaja, E Ho, KV Barnes, HM O’Leary, LM Pereira, Y Finkelstein, ...
Proceedings of the National Academy of Sciences 111 (12), 4596-4601, 2014
Copy number variation plays an important role in clinical epilepsy
H Olson, Y Shen, J Avallone, BR Sheidley, R Pinsky, AM Bergin, GT Berry, ...
Annals of neurology 75 (6), 943-958, 2014
Identification and validation of biomarkers for autism spectrum disorders
E Loth, W Spooren, LM Ham, MB Isaac, C Auriche-Benichou, ...
Nature Reviews Drug Discovery 15 (1), 70-70, 2016
Rett syndrome diagnostic criteria: lessons from the Natural History Study
AK Percy, JL Neul, DG Glaze, KJ Motil, SA Skinner, O Khwaja, HS Lee, ...
Annals of neurology 68 (6), 951-955, 2010
Homozygous PLCB1 deletion associated with malignant migrating partial seizures in infancy
A Poduri, SS Chopra, EG Neilan, P Christina Elhosary, MA Kurian, ...
Epilepsia 53 (8), e146-e150, 2012
Progress in understanding and treating SCN2A-mediated disorders
SJ Sanders, AJ Campbell, JR Cottrell, RS Moller, FF Wagner, ...
Trends in neurosciences 41 (7), 442-456, 2018
Discovery of Risdiplam, a Selective Survival of Motor Neuron-2 (SMN2) Gene Splicing Modifier for the Treatment of Spinal Muscular Atrophy (SMA)
H Ratni, M Ebeling, J Baird, S Bendels, J Bylund, KS Chen, N Denk, ...
Journal of medicinal chemistry 61 (15), 6501-6517, 2018
Morbidity and medication in a large population of individuals with Down syndrome compared to the general population
M Alexander, H Petri, Y Ding, C Wandel, O Khwaja, N Foskett
Developmental Medicine & Child Neurology 58 (3), 246-254, 2016
How accurately does current fetal imaging identify posterior fossa anomalies?
C Limperopoulos, RL Robertson Jr, OS Khwaja, CD Robson, JA Estroff, ...
American Journal of Roentgenology 190 (6), 1637-1643, 2008
Spectrum of neurodevelopmental disabilities in children with cerebellar malformations
MEVE BOLDUC, AJ Du Plessis, N Sullivan, OS Khwaja, XUN Zhang, ...
Developmental Medicine & Child Neurology 53 (5), 409-416, 2011
Mutations in epilepsy and intellectual disability genes in patients with features of Rett syndrome
HE Olson, D Tambunan, C LaCoursiere, M Goldenberg, R Pinsky, ...
American Journal of Medical Genetics Part A 167 (9), 2017-2025, 2015
A set of ninety-seven overlapping yeast artificial chromosome clones spanning the human Y chromosome euchromatin
MH Jones, OSA Khwaja, H Briggs, B Lambson, PM Davey, J Chalmers, ...
Genomics 24 (2), 266-275, 1994
Neurodevelopmental outcome of fetuses referred for ventriculomegaly
M Beeghly, J Ware, J Soul, A Du Plessis, O Khwaja, GM Senapati, ...
Ultrasound in Obstetrics and Gynecology: The Official Journal of the…, 2010
Assessment of cognitive scales to examine memory, executive function and language in individuals with Down syndrome: Implications of a 6-month observational study
X Liogier d'Ardhuy, JO Edgin, C Bouis, S de Sola, C Goeldner, P Kishnani, ...
Frontiers in Behavioral Neuroscience 9, 300, 2015
Whole genome sequencing identifies SCN2A mutation in monozygotic twins with Ohtahara syndrome and unique neuropathologic findings
M Touma, M Joshi, MC Connolly, P Ellen Grant, AR Hansen, O Khwaja, ...
Epilepsia 54 (5), e81-e85, 2013
Clinical severity and quality of life in children and adolescents with Rett syndrome
JB Lane, HS Lee, LW Smith, P Cheng, AK Percy, DG Glaze, JL Neul, ...
Neurology 77 (20), 1812-1818, 2011
Il sistema al momento non pu eseguire l'operazione. Riprova pi tardi.
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