Detalhe da pesquisa
1.
De novo TRPV4 Leu619Pro variant causes a new channelopathy characterised by giant cell lesions of the jaws and skull, skeletal abnormalities and polyneuropathy.
J Med Genet
; 59(3): 305-312, 2022 03.
Artigo
Inglês
| MEDLINE | ID: mdl-33685999
2.
Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases.
Acta Neuropathol
; 139(3): 415-442, 2020 03.
Artigo
Inglês
| MEDLINE | ID: mdl-31820119
3.
Isobutyryl-CoA dehydrogenase deficiency associated with autism in a girl without an alternative genetic diagnosis by trio whole exome sequencing: A case report.
Mol Genet Genomic Med
; 9(2): e1595, 2021 02.
Artigo
Inglês
| MEDLINE | ID: mdl-33432785
4.
Prevalence of Bladder and Bowel Dysfunction in Duchenne Muscular Dystrophy Using the Childhood Bladder and Bowel Dysfunction Questionnaire.
Life (Basel)
; 11(8)2021 Jul 30.
Artigo
Inglês
| MEDLINE | ID: mdl-34440515
5.
Functional Analysis of Genetic Variation in the SECIS Element of Thyroid Hormone Activating Type 2 Deiodinase.
J Clin Endocrinol Metab
; 104(5): 1369-1377, 2019 05 01.
Artigo
Inglês
| MEDLINE | ID: mdl-30423129