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Authors whose works are in public domain in at least one jurisdiction

List of works by Ellen Macnamara

A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation

article

Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay

scientific article published on 25 October 2018

Cases from the Undiagnosed Diseases Network: The continued value of counseling skills in a new genomic era

scientific article published on 24 January 2019

DYRK1A pathogenic variants in two patients with syndromic intellectual disability and a review of the literature

scientific article published on 07 November 2020

De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic Features

scientific article published on 28 June 2018

Defective ciliogenesis in INPP5E-related Joubert syndrome.

scientific article published on 20 October 2017

Expanding the phenotype of COPA syndrome: a kindred with typical and atypical features

scientific article published on 01 November 2018

KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants

scientific article published on 24 September 2018

Kilquist syndrome: A novel syndromic hearing loss disorder caused by homozygous deletion of SLC12A2

scientific article published on 12 March 2019

Linkage-specific deubiquitylation by OTUD5 defines an embryonic pathway intolerant to genomic variation

scientific article published on 20 January 2021

Novel variants in SPTAN1 without epilepsy: An expansion of the phenotype

scientific article published on 11 December 2018

Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylation

scientific article published on 7 July 2016

SAS1B protein [ovastacin] shows temporal and spatial restriction to oocytes in several eutherian orders and initiates translation at the primary to secondary follicle transition

scientific article

Severe bleeding with subclinical oculocutaneous albinism in a patient with a novel HPS6 missense variant

scientific article published on 04 October 2018

The Impact of Living with Klinefelter Syndrome: A Qualitative Exploration of Adolescents and Adults

scientific article published on 10 November 2016

yippee like 3 (ypel3) is a novel gene required for myelinating and perineurial glia development

scientific article published on 16 June 2020

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