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Lista de obras de Bauer P

A draft genome of Yersinia pestis from victims of the Black Death

artículo científico publicado en 2011

A founder nonsense variant in NUDT2 causes a recessive neurodevelopmental disorder in Saudi Arab children

artículo científico publicado en 2018

A homozygous frameshift variant in an alternatively spliced exon of DLG5 causes hydrocephalus and renal dysplasia

artículo científico publicado en 2019

A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome

artículo científico publicado en 2020

ADAMTS19 associated heart valve defects: novel genetic variants consolidating a recognizable cardiac phenotype

artículo científico publicado en 2020

An X-linked syndrome with severe neurodevelopmental delay, hydrocephalus, and early lethality caused by a missense variation in the OTUD5 gene

artículo científico publicado en 2020

Biallelic loss-of-function HACD1 variants are a bona fide cause of congenital myopathy

artículo científico publicado en 2020

EIF4G1 is neither a strong nor a common risk factor for Parkinson's disease: evidence from large European cohorts

artículo científico publicado en 2014

Expanding the clinical and genetic spectra of NKX6-2-related disorder

artículo científico publicado en 2018

FOXP2 variants in 14 individuals with developmental speech and language disorders broaden the mutational and clinical spectrum

artículo científico publicado en 2016

First-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is efficient and facilitates disease gene discovery

scientific article published on 25 March 2020

Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort

artículo científico publicado en 2020

VPS26C homozygous nonsense variant in two cousins with neurodevelopmental deficits, growth failure, skeletal abnormalities, and distinctive facial features

scientific article published on 26 December 2019

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