Associated Papers
Clinical, biochemical, and molecular characterization of a cohort of Egyptian patients with Sanfilippo B syndrome (MPS IIIB): Bayesian Gaussian mixture model.
Fateen E et al.
Molecular Biology Reports, 2025
Exploring Molecular and Phenotypic Characteristics of NAGLU Arg234Gly and Asp312Asn Variants.
Kaymakcalan Celebiler H et al.
Molecular Syndromology, 2025
Longitudinal Natural History of Pediatric Subjects Affected with Mucopolysaccharidosis IIIB.
Okur I et al.
The Journal of Pediatrics, 2022
Significant neuropsychiatric symptoms: three mucopolysaccharidosis type IIIB cases, two of whom were siblings with a novel NAGLU gene mutation.
Değerliyurt A et al.
Neurocase, 2021
Clinical and genetic features of 13 patients with mucopolysaccarhidosis type IIIB: Description of two novel NAGLU gene mutations.
Ozkinay F et al.
Molecular Genetics and Metabolism Reports, 2021
Assessing Lysosomal Disorders in the NGS Era: Identification of Novel Rare Variants.
Encarnação M et al.
International Journal of Molecular Sciences, 2020
Phenotypic and genotypic characterization of families with complex intellectual disability identified pathogenic genetic variations in known and novel disease genes.
Darvish H et al.
Scientific Reports, 2020
Recessive gene disruptions in autism spectrum disorder.
Doan RN et al.
Nature Genetics, 2019
Exome Pool-Seq in neurodevelopmental disorders.
Popp B et al.
European Journal of Human Genetics : Ejhg, 2017
29158550 (PubMed )
Supplement: 41431_2017_22_MOESM6_ESM.xlsx › misCADDover15
Next Generation Sequencing and Genome-Wide Genotyping Identify the Genetic Causes of Intellectual Disability in Ten Consanguineous Families from Jordan.
Froukh TJ
The Tohoku Journal of Experimental Medicine, 2017
Clinical, biochemical and molecular features of Iranian families with mucopolysaccharidosis: A case series.
Yassaee VR et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2017
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