Detalhe da pesquisa
1.
The impact of clinical genome sequencing in a global population with suspected rare genetic disease.
Am J Hum Genet
; 2024 Jun 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38843839
2.
Novel Compound Heterozygous Mutation c.3955_3958dup and c.5825C>T in the ATM Gene: Clinical Evidence of Ataxia-Telangiectasia and Cancer in a Peruvian Family.
Mol Syndromol
; 12(5): 289-293, 2021 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-34602955
3.
Ampliación del tamizaje de errores innatos del metabolismo en Perú: reporte de caso con trastorno del metabolismo de cobalamina / Widened screening for innate metabolism disorders in Peru: report of a case with cobalamin metabolism disorder
Acta méd. peru
; 37(1): 78-83, ene.-mar. 2020. tab, graf
Artigo
em Espanhol
|
LILACS-Express
| ID: biblio-1141976