Detalhe da pesquisa
1.
Loss of DIAPH1 causes SCBMS, combined immunodeficiency, and mitochondrial dysfunction.
J Allergy Clin Immunol
; 148(2): 599-611, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33662367
2.
What are the minimum requirements for ketogenic diet services in resource-limited regions? Recommendations from the International League Against Epilepsy Task Force for Dietary Therapy.
Epilepsia
; 56(9): 1337-42, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-26033161
3.
A Novel Deletion Mutation of Exon 2 of the C19orf12 Gene in an Omani Family with Mitochondrial Membrane Protein-Associated Neurodegeneration (MPAN).
Oman Med J
; 32(1): 66-68, 2017 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-28042406
4.
Atypical Presentations of Respiratory Syncytial Virus Infection: Case Series.
Sultan Qaboos Univ Med J
; 16(1): e86-91, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26909220
5.
Late Onset Central Hypoventilation Syndrome due to a Heterozygous Polyalanine Repeat Expansion Mutation in the PHOX2B Gene.
Oman Med J
; 26(5): 356-8, 2011 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-22125732
6.
Term intra-partum asphyxia: an analysis of acute non-specific supportive criteria and non-CNS organ injury.
Eur J Paediatr Neurol
; 14(4): 313-9, 2010 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-19811936
7.
The spectrum of abnormal neurologic outcomes subsequent to term intrapartum asphyxia.
Pediatr Neurol
; 41(6): 399-405, 2009 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-19931160