Associated Papers
Fourteen cases of cerebral creatine deficiency syndrome in children: a cohort study in China.
Sun W et al.
Translational Pediatrics, 2023
Emerging Epidemiological Data on Rare Intellectual Disability Syndromes from Analyzing the Data of a Large Iranian Cohort.
Zare Ashrafi F et al.
Archives of Iranian Medicine, 2023
Genetic Testing in Various Neurodevelopmental Disorders Which Manifest as Cerebral Palsy: A Case Study From Iran.
Nejabat M et al.
Frontiers in Pediatrics, 2021
First-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is efficient and facilitates disease gene discovery.
Hengel H et al.
European Journal of Human Genetics : Ejhg, 2020
Genetics of intellectual disability in consanguineous families.
Hu H et al.
Molecular Psychiatry, 2019
Carrier frequency of guanidinoacetate methyltransferase deficiency in the general population by functional characterization of missense variants in the GAMT gene.
Desroches CL et al.
Molecular Genetics and Genomics : Mgg, 2015
[Advances in studies on cerebral creatine deficiency syndrome].
Sun WH et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2010
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