Detalhe da pesquisa
1.
Detection of elusive DNA copy-number variations in hereditary disease and cancer through the use of noncoding and off-target sequencing reads.
Am J Hum Genet
; 111(4): 701-713, 2024 Apr 04.
Artigo
Inglês
| MEDLINE | ID: mdl-38531366
2.
Uniparental Disomy as a Mechanism for Combined Oxidative Phosphorylation Deficiency Associated with MRPS34 Gene.
Endocr Metab Immune Disord Drug Targets
; 2024 Jan 12.
Artigo
Inglês
| MEDLINE | ID: mdl-38243972
3.
The first genetic landscape of inherited retinal dystrophies in Portuguese patients identifies recurrent homozygous mutations as a frequent cause of pathogenesis.
PNAS Nexus
; 2(3): pgad043, 2023 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-36909829
4.
Upper limb phocomelia: A prenatal case of thrombocytopenia-absent radius (TAR) syndrome illustrating the importance of chromosomal microarray in limb reduction defects.
Taiwan J Obstet Gynecol
; 59(2): 318-322, 2020 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-32127157
5.
Overproduction, crystallization and preliminary X-ray characterization of Abn2, an endo-1,5-alpha-arabinanase from Bacillus subtilis.
Acta Crystallogr Sect F Struct Biol Cryst Commun
; 64(Pt 7): 636-8, 2008 Jul 01.
Artigo
Inglês
| MEDLINE | ID: mdl-18607095
6.
Genetics of personalized medicine: cancer and rare diseases.
Cell Oncol (Dordr)
; 41(3): 335-341, 2018 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-29633150