Claudia Arberas

Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients

Jair Tenorio, Pablo Alarcón, Pedro Arias et al. · European Journal of Human Genetics · 2019 · 31 citations · Full text

Medicine, Genetics, Molecular Genetics +13

Severe Charcot-Marie-Tooth neuropathy type 1A with 1-base pair deletion and frameshift mutation in the peripheral myelin protein 22 gene

Victor Ionâşescu, Charles Searby, R. Ionasescu et al. · Muscle & Nerve · 1997 · 20 citations

Medicine, Genetics, Neurology +15

A homozygous mutation in the highly conserved Tyr60 of the mature IGF1 peptide broadens the spectrum of IGF1 deficiency

Ana Keselman, Ayelén Martín, Paula Scaglia et al. · European Journal of Endocrinology · 2019 · 19 citations

Medicine, Endocrinology, Genetics +17

Familial congenital facial diplegia: Electrophysiologic and genetic studies

Marcela I. Garcia Erro, Jorge Correale, Claudia Arberas et al. · Pediatric Neurology · 1989 · 15 citations

Life Sciences, Genetics, Otolaryngology +7

Identification of 17 novel mutations in 40 Argentinean unrelated families with mucopolysaccharidosis type II (Hunter syndrome)

Hernán Amartino, Romina Ceci, Francisca Masllorens et al. · Molecular Genetics and Metabolism Reports · 2014 · 15 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12