Suchergebnisse - "Custódio, Sónia"

PubPharm (8)

1

Detection of elusive DNA copy-number variations in hereditary disease and cancer through the use of noncoding and off-target sequencing reads

enthalten in: American journal of human genetics | 2024

von Quinodoz, M. | Kaminska, K. | Cancellieri, F. | +24

2

Uniparental Disomy as a Mechanism for Combined Oxidative Phosphorylation Deficiency Associated with MRPS34 Gene

enthalten in: Endocrine, metabolic & immune disorders drug targets | 2024

von Soares, M. | Travessa, A. | Custódio, S. | +3

3

The first genetic landscape of inherited retinal dystrophies in Portuguese patients identifies recurrent homozygous mutations as a frequent cause of pathogenesis

enthalten in: PNAS nexus | 2023

von Peter, V. | Kaminska, K. | Santos, C. | +10

4

Upper limb phocomelia : A prenatal case of thrombocytopenia-absent radius (TAR) syndrome illustrating the importance of chromosomal microarray in limb reduction defects

enthalten in: Taiwanese journal of obstetrics & gynecology | 2020

von Travessa, A. | Dias, P. | Santos, A. | +3

5

Genetics of personalized medicine : cancer and rare diseases

enthalten in: Cellular oncology (Dordrecht) | 2018

von Alves, I. | Condinho, M. | Custódio, S. | +17

6

Genetics of personalized medicine: cancer and rare diseases

enthalten in: Cellular oncology | 2018

von Alves, I. | Condinho, M. | Custódio, S. | +17

7

Genetics of personalized medicine: cancer and rare diseases

enthalten in: Cellular oncology | 2018

von Alves, I. | Condinho, M. | Custódio, S. | +17

8

Overproduction, crystallization and preliminary X-ray characterization of Abn2, an endo-1,5-alpha-arabinanase from Bacillus subtilis

enthalten in: Acta crystallographica. Section F, Structural biology and crystallization communications | 2008

von de Sanctis, D. | Bento, I. | Inácio, J. | +3

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