Marıá Mercedes Villanueva

Predominant and novel de novo variants in 29 individuals with <scp><i>ALG13</i></scp> deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions

Bobby G. Ng, Erik A. Eklund, Sergey A. Shiryaev et al. · Journal of Inherited Metabolic Disease · 2020 · 37 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome

Matthieu J. Schlögel, Antonella Mendola, Elodie Fastré et al. · Orphanet Journal of Rare Diseases · 2015 · 34 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive Syndrome

Elizabeth E. Palmer, Seungbeom Hong, Fatema Al Zahrani et al. · The American Journal of Human Genetics · 2019 · 27 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

X-linked adrenoleukodystrophy: Clinical course and minimal incidence in South Brazil

Laura Bannach Jardim, Andrew Chaves Feitosa da Silva, Deborah Blank et al. · Brain and Development · 2009 · 22 citations

Medicine, Endocrinology, Pathology +3

Esophageal atresia and prenatal exposure to mycophenolate

María Cecilia Martín, Edgardo Cristiano, Marıá Mercedes Villanueva et al. · Reproductive Toxicology · 2014 · 14 citations

Medicine, Pediatrics, Toxicology +13