Artikel dengan mandat akses publik - John ChristodoulouPelajari lebih lanjut
Tidak tersedia di mana pun: 16
Tinjau
Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families
K Hynes, P Tarpey, LM Dibbens, MA Bayly, SF Berkovic, R Smith, ...
Journal of medical genetics 47 (3), 211-216, 2010
Mandat: US National Institutes of Health
Tinjau
Mitochondrial dysfunction in the skeletal muscle of a mouse model of Rett syndrome (RTT): implications for the disease phenotype
WA Gold, SL Williamson, S Kaur, IP Hargreaves, JM Land, GJ Pelka, ...
Mitochondrion 15, 10-17, 2014
Mandat: National Health and Medical Research Council, Australia
Tinjau
Mitochondrial respiratory chain disorders in childhood: insights into diagnosis and management in the new era of genomic medicine
MJ Menezes, LG Riley, J Christodoulou
Biochimica et Biophysica Acta (BBA)-General Subjects 1840 (4), 1368-1379, 2014
Mandat: National Health and Medical Research Council, Australia
Tinjau
Parental health spillover effects of paediatric rare genetic conditions
Y Wu, H Al-Janabi, A Mallett, C Quinlan, IE Scheffer, KB Howell, ...
Quality of Life Research 29, 2445-2454, 2020
Mandat: National Health and Medical Research Council, Australia
Tinjau
Affective dysfunction in a mouse model of R ett syndrome: Therapeutic effects of environmental stimulation and physical activity
MA Kondo, LJ Gray, GJ Pelka, SK Leang, J Christodoulou, PPL Tam, ...
Developmental Neurobiology 76 (2), 209-224, 2016
Mandat: National Health and Medical Research Council, Australia
Tinjau
Activating variants in PDGFRB result in a spectrum of disorders responsive to imatinib monotherapy
TL Wenger, RA Bly, N Wu, CM Albert, J Park, J Shieh, J Chenbhanich, ...
American journal of medical genetics Part A 182 (7), 1576-1591, 2020
Mandat: US National Institutes of Health
Tinjau
A novel mutation in GMPPA in siblings with apparent intellectual disability, epilepsy, dysmorphism, and autonomic dysfunction
WA Gold, N Sobreira, E Wiame, A Marbaix, E Van Schaftingen, P Franzka, ...
American Journal of Medical Genetics Part A 173 (8), 2246-2250, 2017
Mandat: US National Institutes of Health, National Health and Medical Research …
Tinjau
Recurrent de novo missense variants in GNB2 can cause syndromic intellectual disability
NB Tan, AT Pagnamenta, MP Ferla, J Gadian, BHY Chung, MCY Chan, ...
Journal of Medical Genetics 59 (5), 511-516, 2022
Mandat: US National Institutes of Health, National Health and Medical Research …
Tinjau
Niacin therapy improves outcome and normalizes metabolic abnormalities in an NAXD-deficient patient
J Manor, DG Calame, C Gijavanekar, A Tran, JM Fatih, SR Lalani, ...
Brain 145 (5), e36-e40, 2022
Mandat: US National Institutes of Health
Tinjau
TAT-MeCP2 protein variants rescue disease phenotypes in human and mouse models of Rett syndrome
H Steinkellner, P Kempaiah, AV Beribisky, S Pferschy, J Etzler, A Huber, ...
International Journal of Biological Macromolecules 209, 972-983, 2022
Mandat: German Research Foundation
Tinjau
A cryptic pathogenic NDUFV1 variant identified by RNA‐seq in a patient with normal complex I activity in muscle and transient magnetic resonance imaging changes
S Kiss, J Christodoulou, DR Thorburn, JL Freeman, AJ Kornberg, ...
American Journal of Medical Genetics Part A 191 (6), 1599-1606, 2023
Mandat: US National Institutes of Health, National Health and Medical Research …
Tinjau
Dna Methylation Episignatures are Sensitive and Specific Biomarkers for Detection of Patients with Kat6A/Kat6B Variants
N Vos, J Reilly, MW Elting, PM Campeau, D Coman, Z Stark, TY Tan, ...
Epigenomics 15 (6), 351-367, 2023
Mandat: Genome Canada
Tinjau
Reply: NAD (P) HX dehydratase protein-truncating mutations are associated with neurodevelopmental disorder exacerbated by acute illness
NJ Van Bergen, CL Linster, J Christodoulou
Brain 143 (7), e55-e55, 2020
Mandat: Luxembourg National Research Fund
Tinjau
Exome and genome sequencing to diagnose the genetic basis of neonatal hypotonia: an international consortium study
SU Morton, G Costain, CE French, E Wakeling, A Szuto, J Christodoulou, ...
Neurology 104 (1), e210106, 2025
Mandat: National Health and Medical Research Council, Australia, National Institute …
Tinjau
Pharmacogenetics of aminoglycoside-related ototoxicity: a systematic review
D Gaafar, N Baxter, N Cranswick, J Christodoulou, A Gwee
Journal of Antimicrobial Chemotherapy 79 (7), 1508-1528, 2024
Mandat: National Health and Medical Research Council, Australia
Tinjau
Critically unwell infants and children with mitochondrial disorders diagnosed by ultrarapid genomic sequencing
M Ball, SE Bouffler, CB Barnett, ML Freckmann, MF Hunter, B Kamien, ...
Genetics in Medicine 27 (1), 101293, 2025
Mandat: National Health and Medical Research Council, Australia
Tersedia di suatu tempat: 200
Tinjau
Rett syndrome: revised diagnostic criteria and nomenclature
JL Neul, WE Kaufmann, DG Glaze, J Christodoulou, AJ Clarke, ...
Annals of neurology 68 (6), 944-950, 2010
Mandat: US National Institutes of Health, Austrian Science Fund
Tinjau
Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing
SE Calvo, AG Compton, SG Hershman, SC Lim, DS Lieber, EJ Tucker, ...
Science translational medicine 4 (118), 118ra10-118ra10, 2012
Mandat: US National Institutes of Health
Tinjau
Autoantibodies neutralizing type I IFNs are present in~ 4% of uninfected individuals over 70 years old and account for~ 20% of COVID-19 deaths
P Bastard, A Gervais, T Le Voyer, J Rosain, Q Philippot, J Manry, ...
Science immunology 6 (62), eabl4340, 2021
Mandat: US National Institutes of Health, Howard Hughes Medical Institute, National …
Tinjau
X-linked recessive TLR7 deficiency in~ 1% of men under 60 years old with life-threatening COVID-19
T Asano, B Boisson, F Onodi, D Matuozzo, M Moncada-Velez, ...
Science immunology 6 (62), eabl4348, 2021
Mandat: US National Institutes of Health, Howard Hughes Medical Institute, National …
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