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Felipe Benavides

Universidad del Desarrollo

13

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139

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No association between genetic variants in MAOA, OXTR, and AVPR1a and cooperative strategies.

2020 PLOS ONE
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ALS deficiency caused by an exon 2 deletion and a novel missense variant in the gene encoding ALS

2019 Growth Hormone & Igf Research
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Association between phenotype and deletion size in 22q11.2 microdeletion syndrome: systematic review and meta-analysis

2019 Orphanet Journal of Rare Diseases
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Somatic Mosaicism for Paternal Uniparental Disomy of 11p15.5 Region in Adrenal and Liver Tissues in a Newborn with Atypical Beckwith–Wiedemann Syndrome

2019 Journal of pediatric genetics
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Brand equity: o valor da marca do Projeto Criança Esperança

2018
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Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome

2018 American Journal of Human Genetics
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Partial microduplication in the histone acetyltransferase complex member KANSL1 is associated with congenital heart defects in 22q11.2 microdeletion syndrome patients

2017 Scientific Reports
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Los autores aludidos ofrecieron la siguiente réplica

2016 Revista Medica De Chile
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Efecto del polimorfismo -1639G > A del gen VKORC1 sobre la dosis de anticoagulantes orales acenocumarol y warfarina en pacientes chilenos: posibles modelos de herencia

2016 Revista Medica De Chile
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Molecular diagnosis in patients with retinoblastoma: Report of a series of cases

2016 Archivos de la Sociedad Española de Oftalmología
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