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Lista de obras de Benoit Arveiler

19p13 microduplications encompassing NFIX are responsible for intellectual disability, short stature and small head circumference.

artículo científico publicado en 2017

A new case with Hermansky-Pudlak syndrome type 9, a rare cause of syndromic albinism with severe defect of platelets dense bodies

artículo científico publicado en 2020

Albinism: An Underdiagnosed Condition

artículo científico publicado en 2019

Clinical and molecular findings of FRMD7 related congenital nystagmus as adifferential diagnosis of ocular albinism

artículo científico publicado en 2019

Complete loss of function of the ubiquitin ligase HERC2 causes a severe neurodevelopmental phenotype.

artículo científico publicado en 2016

Deletion in 2q35 excluding the IHH gene leads to fetal severe limb anomalies and suggests a disruption of chromatin architecture

article

Dopachrome tautomerase variants in patients with oculocutaneous albinism

artículo científico publicado en 2020

Hereditary Mucoepithelial Dysplasia Results from Heterozygous Variants at p.Arg557 Mutational Hotspot in SREBF1, Encoding a Transcription Factor Involved in Cholesterol Homeostasis

artículo científico publicado en 2019

Molecular characterization of a series of 990 index patients with albinism.

artículo científico publicado en 2018

Novel variants in the BLOC1S3 gene in patients presenting a mild form of Hermansky-Pudlak Syndrome

artículo científico publicado en 2020

[Clinical and genetic aspects of albinism]

scientific article published on 19 July 2017

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