E. Galán‐Gómez

Waardenburg syndrome type 4: Report of two new cases caused by SOX10 mutations in Spain

S. Borrego, G. Antiñolo, R. Fernández, 2014, American journal of medical genetics. Part A.

Clitoromegaly in neurofibromatosis.

R. Sutphen, B. Kousseff, E. Galán‐Gómez, 1995, American journal of medical genetics.

Tracheoesophageal anomalies in oculoauriculovertebral (Goldenhar) spectrum

R. Sutphen, B. Kousseff, E. Galán-Gómez, 1995, Clinical genetics.

Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications

H. Hakonarson, B. Gener, D. Sharon, 2021, Scientific reports.

Clinical manifestations in female carriers of mucopolysaccharidosis type II: a spanish cross-sectional study

M. Couce, E. Galán-Gómez, E. Guillén-Navarro, 2013, Orphanet Journal of Rare Diseases.

Intrauterine growth retardation, duodenal and extrahepatic biliary atresia, hypoplastic pancreas and other intestinal anomalies: further evidence of the Martínez-Frías syndrome.

E. Galán-Gómez, E. B. Sánchez, S. Arias-Castro, 2007, European journal of medical genetics.

Kabuki make-up (Niikawa-Kuroki) syndrome in five Spanish children.

J. Frías, M. Martínez‐Frías, E. Galán‐Gómez, 1995, American journal of medical genetics.

First experience of enzyme replacement therapy with idursulfase in Spanish patients with Hunter syndrome under 5 years of age: case observations from the Hunter Outcome Survey (HOS).

G. Pintos-Morell, R. Cancho-Candela, M. Martí-Herrero, 2010, European journal of medical genetics.

Early response to idursulfase treatment in a 3 year-old boy affected of Hunter syndrome.

E. Galán-Gómez, J. Cardesa-García, C. Cáceres-Marzal, 2008, European journal of medical genetics.

Unrelated chromosomal anomalies found in patients with suspected 22q11.2 deletion

D. Heine-Suñer, P. Lapunzina, J. Rosell, 2008, American journal of medical genetics. Part A.

A diagnostic conundrum: Two siblings with features overlapping the Kabuki and Malpuech syndromes. A new MCA syndrome?

J. Frías, José María Carbonell‐Pérez, M. Martínez‐Frías, 2004, American journal of medical genetics. Part A.

A Scoring System to Predict the Severity of Hirschsprung Disease at Diagnosis and Its Correlation With Molecular Genetics

S. Borrego, E. Galán-Gómez, J. Ruiz-Contreras, 2016, Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society.

Schuurs–Hoeijmakers Syndrome (PACS1 Neurodevelopmental Disorder): Seven Novel Patients and a Review

Á. Carracedo, L. Pérez-Jurado, P. Lapunzina, 2021, Genes.