Enrique Nogueira

4PUBLICATIONS
0CO-AUTHORS
Genetics not elsewhere classifiedNeurology and neuromuscular diseasesShip and platform structures (incl. maritime hydrodynamics)
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Publications (4)

|Nov 12, 2024
A Novel Compound Heterozygous Genotype of the WDR73 Gene Associated With a Psychomotor Retardation Syndrome Without Cerebellar Atrophy and Other CNS Structural Abnormalities.

Enrique Nogueira, Beatriz Del Olmo, Lara Babín

|Jan 15, 2022
ALS2-related disorders in Spanish children: a severely affected case of infantile ascending spastic paraplegia due to homozygous R704X mutation.

Enrique Nogueira, Carmen Garma, Concepción Lobo

|Jul 02, 2021
Severe developmental expressive language disorder due to a frameshift mutation in exon 18 of SRCAP gene, far away from the mutational hotspot in exons 33 and 34 associated to the Floating-Harbor syndrome.

Enrique Nogueira, Carmen Garma, Concepción Lobo

|Jan 07, 2021
ALS2-related disorders in Spanish children.

Enrique Nogueira, Juana Alarcón, Carmen Garma

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