Results 141 to 150 of about 247,095 (344)

The representation of female characters in Butler’s translation of the “Odyssey”: a corpus-based approach

AOQU
In The Authoress of the Odyssey (1897), Samuel Butler developed a notably controversial intuition about the poem’s author. In his analyses, he concluded that the same person could not have created the Iliad and the Odyssey: whilst the former was ...
Daniel Russo
doaj   +1 more source

Combined Long‐Read Genome and Transcriptome Sequencing Establishes Novel Variants in MEGF8 as the Cause for Carpenter Syndrome Type 2

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Carpenter syndrome type 2 (CRPT2) is a rare autosomal recessive disease mainly characterized by craniosynostosis and polysyndactyly. CRPT2 is the rarer subtype of Carpenter syndrome (CRPTS) and is caused by biallelic variants in the multiple epidermal growth factor‐like domains 8 gene (MEGF8).
Kiana Rashidi, Bhavi P. Modi, Phillip A. Richmond, Massimo Mangino, Loryn Byres, Cassie McDonald, Joshua Dalmann, Simran Samra, Kate L. Del Bel, Anna Lehman, Jessica L. Zambonin, Stuart E. Turvey   +11 more
wiley   +1 more source

Atypical Clinical Course of Griscelli Syndrome Type 2 With Primarily Neurologic Presentation and Adult‐Onset in a 46‐Year‐Old Male

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Griscelli Syndrome Type 2 (GS2) is a rare autosomal recessive disorder caused by pathogenic mutations in the RAB27A gene. Typically, it is characterized by cutaneous hypopigmentation, immunodeficiency, with or without neurological abnormalities secondary to hemophagocytic lymphohistiocytosis (HLH). Without treatment, GS2 often results in fatal
Dzhoy Papingi, Michael Kutsche, Helena Lichtenfeld, Fanny Kortüm, Angela Abicht, Laura Herrmann, Theresia Herget   +6 more
wiley   +1 more source

Pioneer 10 Doppler data analysis: disentangling periodic and secular anomalies

, 2009
This paper reports the results of an analysis of the Doppler tracking data of Pioneer probes which did show an anomalous behaviour. A software has been developed for the sake of performing a data analysis as independent as possible from that of J ...
A. Levy, Anderson, Anderson, B. Christophe, Bilitza, Boehm, Daniell, G. Métris, Henrici, J.-M. Courty, Jaekel, Jaekel, Moffat, Moyer, Niell, Nieto, Nieto, Olsen, P. Bério, S. Reynaud, Standish, Turyshev   +21 more
core   +4 more sources

Long‐Term Follow Up of Two Patients With Variants in the Cluster 1031‐1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide, Vinicius Contrucci Dantas Segarra, Siulan Vendramini‐Pittoli, Henrique Regonaschi Serigatto, Luiza Virmond, Heloisa Marcelina da Cunha Palhares, Fernanda Jehee, Ana Cristina Victorino Krepischi, Carla Rosenberg, Carlos Henrique Paiva Grangeiro, Nancy Mizue Kokitsu‐Nakata   +10 more
wiley   +1 more source

Odyssey of life [PDF]

Medical Humanities, 2016
> Born to the world > > you unfurl your sails, > > snapping and billowing > > they harness the power, > > leading you through > > the odyssey of life. > Wallowing in calm waters > > you …
openaire   +2 more sources

Diagnostic Odyssey of Atypical Long‐Chain 3‐Hydroxyacyl‐CoA Dehydrogenase Deficiency (LCHADD) Explained by Three Allelic Products From Two Pathogenic Variants

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency (LCHADD) is an autosomal recessive mitochondrial defect of long‐chain fatty acid β‐oxidation, caused by biallelic pathogenic variants in HADHA or HADHB. We report a 22‐year‐old male with an atypically mild presentation of LCHADD who was referred to the Undiagnosed Diseases Network (UDN ...
Yutaka Furuta, Lynette C. Rives, T. Andrew Burrow, Thomas A. Cassini, Rory J. Tinker, Amy K. Robertson, Kimberly M. Ezell, Rizwan Hamid, Joy D. Cogan, John A. Phillips III   +9 more
wiley   +1 more source

The Diagnosis That Arrived Decades Late: Living Without and Then With Myhre Syndrome

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MIM #139210) is a rare multisystem disorder first described in 1981, characterized by short stature, neurodevelopmental delay, joint contractures, and cardiopulmonary complications. Its molecular basis, recurrent pathogenic variants in SMAD4, was not discovered until 2011. This narrative is based on a review of medical records,
Abdallah F. Elias
wiley   +1 more source

Le rôle de la personnification de la nature dans la représentation des catastrophes naturelles : de L’Odyssée d’Homère à la climate-fiction contemporaine

Sociopoétiques
From Homer’s Odyssey to contemporary climate fiction, the perception of natural disasters within literature allows the analysis of some social reflection of the place that human beings hold in the cosmos. Through the reading of the Odyssey and three
Sofia MAVROGIANNI
doaj   +1 more source

Speaker recognition by means of restricted Boltzmann machine adaptation [PDF]

, 2016
Restricted Boltzmann Machines (RBMs) have shown success in speaker recognition. In this paper, RBMs are investigated in a framework comprising a universal model training and model adaptation.
Ghahabi Esfahani, Omid, Hernando Pericás, Francisco Javier, Safari, Pooyan   +2 more
core