I. López

FRAXE and mental retardation.

John C. Mulley, Shuancang Yu, Danuta Z. Loesch et al. · Journal of Medical Genetics · 1995 · 135 citations · Full text

Cytogenetics, Genetics, Genetic Epidemiology +18

Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness

Stanislav Kmoch, Jacek Majewski, Vasanth Ramamurthy et al. · Nature Communications · 2015 · 93 citations · Full text

Intrachromosomal partial triplication of chromosome 13 secondary to a paternal duplication with mild phenotypic effect

I. López, Juan Antonio Bafallíu, Mònica Santos et al. · American Journal of Medical Genetics Part A · 2008 · 76 citations

<i>WDR19</i> : An ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior‐Loken syndrome

Razek Georges Coussa, Edgar A. Otto, Heon Yung Gee et al. · Clinical Genetics · 2013 · 70 citations · Full text

Genetics, Renal Pathology, Pathology +26

Clinical comparison of 10q26 overlapping deletions: Delineating the critical region for urogenital anomalies

Ascensión Vera‐Carbonell, Vanesa López‐González, Juan Antonio Bafallíu et al. · American Journal of Medical Genetics Part A · 2015 · 57 citations