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1.
Newly identified disorder of copper metabolism caused by variants in CTR1, a high-affinity copper transporter.
Hum Mol Genet
; 31(24): 4121-4130, 2022 12 16.
Artículo
en Inglés
| MEDLINE | ID: mdl-35913762
2.
Early-onset presentation of a new subtype of ß-Propeller protein-associated neurodegeneration (BPAN) caused by a de novo WDR45 deletion in a 6 year-old female patient.
Eur J Med Genet
; 63(3): 103765, 2020 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-31536831
3.
The SANAD study of effectiveness of carbamazepine, gabapentin, lamotrigine, oxcarbazepine, or topiramate for treatment of partial epilepsy: an unblinded randomised controlled trial.
Lancet
; 369(9566): 1000-15, 2007 Mar 24.
Artículo
en Inglés
| MEDLINE | ID: mdl-17382827
4.
The SANAD study of effectiveness of valproate, lamotrigine, or topiramate for generalised and unclassifiable epilepsy: an unblinded randomised controlled trial.
Lancet
; 369(9566): 1016-26, 2007 Mar 24.
Artículo
en Inglés
| MEDLINE | ID: mdl-17382828
5.
Screening of 50 cypriot patients with autism spectrum disorders or autistic features using 400K custom array-CGH.
Biomed Res Int
; 2013: 843027, 2013.
Artículo
en Inglés
| MEDLINE | ID: mdl-24260744
6.
The spectrum of mutations identified in Cypriot patients with phenylalanine hydroxylase deficiency detected through neonatal screening.
Clin Biochem
; 45(7-8): 588-92, 2012 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-22330942
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