Rita Valdéz

Choanal atresia associated with maternal hyperthyroidism treated with methimazole: A case–control study

Pablo Barbero, Rita Valdéz, Hugo Rodríguez et al. · American Journal of Medical Genetics Part A · 2008 · 130 citations

Medicine, Maternal Health, Obstetrics +17

Systemic Type I IFN Inflammation in Human ISG15 Deficiency Leads to Necrotizing Skin Lesions

Marta Martín-Fernández, María Bravo García‐Morato, Conor Gruber et al. · Cell Reports · 2020 · 93 citations · Full text

Medicine, Dermatology, Immunology +17

Further delineation of Malan syndrome

Manuela Priolo, Denny Schanze, Katrin Tatton-Brown et al. · Human Mutation · 2018 · 80 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Development, behaviour and sensory processing in Marshall–Smith syndrome and Malan syndrome: phenotype comparison in two related syndromes

Paul A. Mulder, Ingrid D. C. van Balkom, Annemiek Landlust et al. · Journal of Intellectual Disability Research · 2020 · 35 citations · Full text

Life Sciences, Genetics, Human Development +16

Clinical and molecular studies on two further families with Simpson‐Golabi‐Behmel syndrome

Germán Rodríguez‐Criado, Luis F. Magano, Mabel Segovia et al. · American Journal of Medical Genetics Part A · 2005 · 31 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17