Search details
1.
Biallelic TBCD Mutations Cause Early-Onset Neurodegenerative Encephalopathy.
Am J Hum Genet
; 99(4): 950-961, 2016 Oct 06.
Article
in English
| MEDLINE | ID: mdl-27666374
2.
Comparison of the phenotypes of patients harboring in-frame deletions starting at exon 45 in the Duchenne muscular dystrophy gene indicates potential for the development of exon skipping therapy.
J Hum Genet
; 62(4): 459-463, 2017 Apr.
Article
in English
| MEDLINE | ID: mdl-27974813
3.
Deletion of exons 3-9 encompassing a mutational hot spot in the DMD gene presents an asymptomatic phenotype, indicating a target region for multiexon skipping therapy.
J Hum Genet
; 61(7): 663-7, 2016 Jul.
Article
in English
| MEDLINE | ID: mdl-27009627
4.
[A case of acute necrotizing encephalopathy and acute encephalopathy with biphasic seizures and late reduced diffusion].
No To Hattatsu
; 44(6): 487-91, 2012 Nov.
Article
in Japanese
| MEDLINE | ID: mdl-23240532
5.
Early prognostic factors for acute encephalopathy with reduced subcortical diffusion.
Brain Dev
; 40(8): 707-713, 2018 Sep.
Article
in English
| MEDLINE | ID: mdl-29716832
6.
Protracted juvenile neuronal ceroid lipofuscinosis--an autopsy report and immunohistochemical analysis.
Brain Dev
; 28(7): 462-5, 2006 Aug.
Article
in English
| MEDLINE | ID: mdl-16503390
7.
Periventricular low intensities on fluid attenuated inversion recovery imaging in the newborn infant: Relationships to chronic white matter lesions.
Pediatr Int
; 46(2): 141-9, 2004 Apr.
Article
in English
| MEDLINE | ID: mdl-15056239
8.
Periventricular low intensities on fluid attenuated inversion recovery imaging in the newborn infant: relationships to the clinical data and long-term outcome.
Pediatr Int
; 46(2): 150-7, 2004 Apr.
Article
in English
| MEDLINE | ID: mdl-15056240
9.
Further delineation of the behavioral and neurologic features in Costello syndrome.
Am J Med Genet A
; 118A(1): 8-14, 2003 Apr 01.
Article
in English
| MEDLINE | ID: mdl-12605434
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