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Allan Bayat
Allan Bayat
Danish Epilepsy Center, Department of Pharmachology and Drug design at University of Copenhagen
在 filadelfia.dk 的电子邮件经过验证 - 首页
标题
引用次数
引用次数
年份
The incidence of SCN1A‐related Dravet syndrome in Denmark is 1:22,000: A population‐based study from 2004 to 2009
A Bayat, H Hjalgrim, RS Møller
Epilepsia 56 (4), e36-e39, 2015
1452015
The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome
PJ van der Sluijs, S Jansen, SA Vergano, M Adachi-Fukuda, Y Alanay, ...
Genetics in Medicine 21 (6), 1295-1307, 2019
1262019
Nitrous oxide provides safe and effective analgesia for minor paediatric procedures--a systematic review.
RS Pedersen, A Bayat, NP Steen, ML Jacobsson
children 9, 11, 2013
952013
PEDIA: prioritization of exome data by image analysis
TC Hsieh, MA Mensah, JT Pantel, D Aguilar, O Bar, A Bayat, ...
Genetics in Medicine 21 (12), 2807-2814, 2019
922019
Neurodevelopmental disorders caused by de novo variants in KCNB1 genotypes and phenotypes
CGF De Kovel, S Syrbe, EH Brilstra, N Verbeek, B Kerr, H Dubbs, A Bayat, ...
JAMA neurology 74 (10), 1228-1236, 2017
902017
Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis
A Knaus, JT Pantel, M Pendziwiat, N Hajjir, M Zhao, TC Hsieh, ...
Genome medicine 10, 1-13, 2018
882018
Phenotype and genotype of 87 patients with Mowat–Wilson syndrome and recommendations for care
I Ivanovski, O Djuric, SG Caraffi, D Santodirocco, M Pollazzon, S Rosato, ...
Genetics in Medicine 20 (9), 965-975, 2018
862018
Epilepsy syndromes in the first year of life and usefulness of genetic testing for precision therapy
A Bayat, M Bayat, G Rubboli, RS Møller
Genes 12 (7), 1051, 2021
662021
Neuroimaging findings in Mowat–Wilson syndrome: a study of 54 patients
L Garavelli, I Ivanovski, SG Caraffi, D Santodirocco, M Pollazzon, ...
Genetics in Medicine 19 (6), 691-700, 2017
592017
Characteristics and outcome of Goodpasture’s disease in children
A Bayat, K Kamperis, T Herlin
Clinical rheumatology 31, 1745-1751, 2012
452012
Lessons learned from 40 novel PIGA patients and a review of the literature
A Bayat, A Knaus, M Pendziwiat, A Afenjar, TS Barakat, F Bosch, ...
Epilepsia 61 (6), 1142-1155, 2020
422020
PIGT-CDG, a disorder of the glycosylphosphatidylinositol anchor: description of 13 novel patients and expansion of the clinical characteristics
A Bayat, A Knaus, AW Juul, D Dukic, E Gardella, A Charzewska, ...
Genetics in Medicine 21 (10), 2216-2223, 2019
272019
Impact of genetic testing on therapeutic decision-making in childhood-onset epilepsies—a study in a tertiary epilepsy center
A Bayat, CD Fenger, TR Techlo, AF Højte, I Nørgaard, TF Hansen, ...
Neurotherapeutics 19 (4), 1353-1367, 2022
252022
The evolving craniofacial phenotype of a patient with Sensenbrenner syndrome caused by IFT140 compound heterozygous mutations
A Bayat, B Kerr, S Douzgou
Clinical Dysmorphology 26 (4), 247-251, 2017
252017
Identification and functional evaluation of GRIA1 missense and truncation variants in individuals with ID: An emerging neurodevelopmental syndrome
V Ismail, LG Zachariassen, A Godwin, M Sahakian, S Ellard, KL Stals, ...
The American Journal of Human Genetics 109 (7), 1217-1241, 2022
242022
KCNQ2 R144 variants cause neurodevelopmental disability with language impairment and autistic features without neonatal seizures through a gain-of-function mechanism
F Miceli, C Millevert, MV Soldovieri, I Mosca, P Ambrosino, L Carotenuto, ...
EBioMedicine 81, 2022
232022
PURA-Related Developmental and Epileptic Encephalopathy: Phenotypic and Genotypic Spectrum
KM Johannesen, E Gardella, CE Gjerulfsen, A Bayat, RPW Rouhl, ...
Neurology: Genetics 7 (6), e613, 2021
232021
Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder
J Courraud, E Chater-Diehl, B Durand, M Vincent, ...
Genetics in Medicine 23 (11), 2150-2159, 2021
232021
A clinical scoring system for congenital contractural arachnodactyly
I Meerschaut, S De Coninck, W Steyaert, A Barnicoat, A Bayat, ...
Genetics in Medicine 22 (1), 124-131, 2020
222020
Prevalence and causes of infantile nystagmus in a large population‐based Danish cohort
K Hvid, KR Nissen, A Bayat, L Roos, K Grønskov, L Kessel
Acta ophthalmologica 98 (5), 506-513, 2020
212020
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