Results 181 to 190 of about 88,012 (270)

Macrothrombocytopenia, psychomotor retardation, and nephropathy: A novel familial syndrome

open access: yesSaudi Journal of Kidney Diseases and Transplantation, 2014
Kamal F Akl   +6 more
doaj   +1 more source

A novel splice variant in EMC1 is associated with cerebellar atrophy, visual impairment, psychomotor retardation with epilepsy. [PDF]

open access: yesMol Genet Genomic Med, 2018
Geetha TS   +7 more
europepmc   +1 more source

[Recurrent convulsion and pulmonary infection complicated by psychomotor retardation in an infant]. [PDF]

open access: yesZhongguo Dang Dai Er Ke Za Zhi, 2018
Xiong J   +6 more
europepmc   +1 more source

TSEN54 Gene-Related Pontocerebellar Hypoplasia Type 2 Could Mimic Dyskinetic Cerebral Palsy with Severe Psychomotor Retardation. [PDF]

open access: yesFront Pediatr, 2018
Pacheva IH   +6 more
europepmc   +1 more source

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