Detalhe da pesquisa
1.
GLRB is the third major gene of effect in hyperekplexia.
Hum Mol Genet
; 22(5): 927-40, 2013 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23184146
2.
Clinical Outcome of Children With Corpus Callosum Agenesis.
Pediatr Neurol
; 112: 47-52, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32911263
3.
Familial Xp11.22 microdeletion including SHROOM4 and CLCN5 is associated with intellectual disability, short stature, microcephaly and Dent disease: a case report.
BMC Med Genomics
; 12(1): 6, 2019 01 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30630535
4.
Pontine Tegmental Cap Dysplasia in an Extremely Preterm Infant and Review of the Literature.
J Child Neurol
; 32(3): 334-340, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28193110