Get started
Author

Hadil Kathom

Observed names: H M Kathom, Kathom H M, Kathom, Hadil, Kathom, Hadil Mohamed
ORCID: 0000-0001-5884-0078
Observed ORCID: 0000-0001-5884-0078
OpenAlex ID: A5048940527
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders
2019 · Vincenzo Salpietro, Christine L. Dixon, et al. · Nature Communications · 268
Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment
2019 · Vincenzo Salpietro, Nancy T. Malintan, et al. · The American Journal of Human Genetics · 140
Bi-allelic JAM2 Variants Lead to Early-Onset Recessive Primary Familial Brain Calcification
2020 · Lucia V. Schottlaender, Rosella Abeti, et al. · The American Journal of Human Genetics · 88
PDF
PEDIA: prioritization of exome data by image analysis
2019 · Tzung-Chien Hsieh, Martin A. Mensah, et al. · Genetics in Medicine · 87
PDF
Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination
2019 · Stephanie Efthymiou, Vincenzo Salpietro, et al. · Brain · 86
PDF
Early-infantile onset epilepsy and developmental delay caused by bi-allelic GAD1 variants
2020 · Caroline Neuray, Reza Maroofian, et al. · Brain · 58
PDF
A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease
2022 · Elisa Calì, Sheng-Jia Lin, et al. · Genetics in Medicine · 17
PDF
Barth Syndrome in Male and Female Siblings Caused by a Novel Mutation in the Taz Gene.
2016 · D M Avdjieva-Tzavella, A P Todorova, et al. · Genetic counseling · 13
First Bulgarian case of citrin deficiency caused by one novel and one recurrent mutation in the SLC25A13 gene.
2014 · D M Avdjieva-Tzavella, M B Ivanova, et al. · PubMed · 12
Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome
2023 · Vincenzo Salpietro, Reza Maroofian, et al. · The American Journal of Human Genetics · 9
PDF
Arginase deficiency in Bulgaria: first cases and potential endemic region for the disorder
2022 · Slavena Atemin, Tihomir Todorov, et al. · Journal of Genetics · 1
Benefits and challenges in conducting long-term growth hormone therapy in patients with Prader-Willi syndrome
2020 · Olga Antonova, Hadil Kathom, et al. · Genetika
PDF
Pediatrics
2020 · Konstantinov, Dobrin Nikolov, Hristozova, Iskra Ruseva, et al. · Medical University of Varna Repository
Results of enzyme replacement therapy in Bulgarian patients with a severe form of hunter syndrome: A 42-month follow-up
2018 · Daniela Avdjieva-Tzavella, Hadil Kathom, et al. · Genetika
PDF
Wolman Disease and Liver Transplantation: Case Report
2017 · Yordanka Uzunova, Daniela Avdjieva-Tzavella, et al. · International Journal of Sciences: Basic and Applied Research
PDF
Works count: 17
Citation count: 779
H-index: 9
I10-index: 9
Year
Topic
Type