Jaime Sánchez del Pozo

Novel (60%) and Recurrent (40%) Androgen Receptor Gene Mutations in a Series of 59 Patients with a 46,XY Disorder of Sex Development

Laura Audí, Mónica Fernández‐Cancio, Antonio Carrascosa et al. · The Journal of Clinical Endocrinology & Metabolism · 2010 · 147 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

In-Frame Mutations in Exon 1 of SKI Cause Dominant Shprintzen-Goldberg Syndrome

Virginie Carmignac, Julien Thevenon, Lesley C. Adès et al. · The American Journal of Human Genetics · 2012 · 111 citations · Full text

Life Sciences, Genetics, Molecular Genetics +5

Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants

Beatriz Paumard‐Hernández, Julia Berges‐Soria, Eva Barroso et al. · European Journal of Human Genetics · 2014 · 66 citations · Full text

Medicine, Genetics, Molecular Genetics +16

Congenital disorder of glycosylation (CDG) type Ie. A new patient

M.T. García‐Silva, Gert Matthijs, Els Schollen et al. · Journal of Inherited Metabolic Disease · 2004 · 53 citations

Life Sciences, Biochemistry, Glycobiology +10

Novel Dominant-Negative GH Receptor Mutations Expands the Spectrum of GHI and IGF-I Deficiency

Kanimozhi Vairamani, Lina Merjaneh, Paula Casano et al. · Journal of the Endocrine Society · 2017 · 36 citations · Full text

Medicine, Endocrinology, Genetics +17