Detalhe da pesquisa
1.
Genetic landscape of Rett syndrome-like phenotypes revealed by whole exome sequencing.
J Med Genet
; 56(6): 396-407, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30842224
2.
Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy.
Am J Hum Genet
; 99(6): 1368-1376, 2016 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27889060
3.
Thiamine-responsive pyruvate dehydrogenase complex deficiency presenting as recurrent muscle weakness: Identification of a novel mutation (p.T111I) in the PDHA1 gene.
Pediatr Int
; 65(1): e15385, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36225105
4.
Crohn's disease and chronic recurrent multifocal osteomyelitis in a Japanese boy.
Pediatr Int
; 63(1): 115-117, 2021 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-33368886
5.
Nasopharyngeal airway for upper airway obstruction in infectious mononucleosis.
Pediatr Int
; 62(5): 642-643, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32346948
6.
Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy.
Epilepsia
; 54(7): 1262-9, 2013 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-23662938
7.
Perampanel markedly improved clinical seizures in a patient with a Rett-like phenotype and 960-kb deletion on chromosome 9q34.11 including the STXBP1.
Clin Case Rep
; 10(5): e05811, 2022 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-35600024
8.
Parotid gland atrophy after conservative treatment of a post-traumatic parotid fistula in a two-year-old boy.
Int J Pediatr Otorhinolaryngol
; 138: 110326, 2020 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-32861193
9.
Clinical and genetic characteristics of patients with Doose syndrome.
Epilepsia Open
; 5(3): 442-450, 2020 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-32913952
10.
Post-natal treatment by a blood-brain-barrier permeable calpain inhibitor, SNJ1945 rescued defective function in lissencephaly.
Sci Rep
; 3: 1224, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23390575
11.
Clinical study of childhood acute disseminated encephalomyelitis, multiple sclerosis, and acute transverse myelitis in Fukuoka Prefecture, Japan.
Brain Dev
; 32(6): 454-62, 2010 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-19942388