Detalhe da pesquisa
1.
Biochemical characterization of two novel mutations in the human high-affinity choline transporter 1 identified in a patient with congenital myasthenic syndrome.
Hum Mol Genet
; 32(9): 1552-1564, 2023 04 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-36611016
2.
De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism.
Am J Hum Genet
; 107(2): 352-363, 2020 08 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32693025
3.
Effect of growth hormone therapy on severe short stature and skeletal deformities in a patient with combined Turner syndrome and Langer mesomelic dysplasia.
J Clin Endocrinol Metab
; 94(12): 5028-33, 2009 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-19850687