Results 41 to 50 of about 7,377 (241)
Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Malan syndrome is an ultra‐rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (NFIX) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients.
Alex F. Nisbet +10 more
wiley +1 more source
Surely fades away: Polaroid photography and the contradictions of cultural value [PDF]
, 2008 Photography has always had a precarious relation to cultural value: as Walter Benjamin put it, those who argued for photography as an art were bringing it to a tribunal it was in the process of overthrowing.
Buse, P
core +2 more sources
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The 2q31 region is commonly associated with pathogenic alleles of the HOXD cluster leading to various clinical phenotypes related to skeletal development. We present a proband with tetralogy of Fallot and multiple congenital anomalies. Genomic variant screening including an in‐house CGR detection pipeline pairing genome sequencing (GS ...
Katherine Helle +10 more
wiley +1 more source
, 2023 We will present an updated version of our research on ultraprocessed food consumption and class in France. In Bridg’it 2022, we asked: is it a case of selective exclusion? Selective exclusion happens when the upper social groups are omnivorous but exclude some products that express lower-status tastes.
Plessz, Marie, Gojard, Séverine
openaire +1 more source
Spartan Daily, May 10, 1949 [PDF]
, 1949 Volume 37, Issue 130https://scholarworks.sjsu.edu/spartandaily/11243/thumbnail ...
San Jose State University, School of Journalism and Mass Communications
core +1 more source
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 +10 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Fanconi Anemia (FA) is the most frequent inherited bone marrow failure syndrome. A role for the XRCC2 gene in FA was suspected in 2012 and confirmed in 2016, but only two affected individuals have been described thus far, and no long‐term follow‐up is available.
Sabina Cenciarelli +11 more
wiley +1 more source
From made in Italy to etno-chic. Some thoughts on costume design in contemporary Italian cinema (class, gender and national identity) [PDF]
, 2016 This article outlines an overview of the relationship between costume and film in contemporary Italian cinema, with particular reference to class, gender and ideological discourse.
Minuz, Andrea
core +1 more source
Descriptive, comparative, and functional anatomy of the facial musculature in cattle (Bos taurus)
The Anatomical Record, EarlyView.Abstract Facial expressions can provide insight into animal emotions and pain, but no standardized system for assessing the entire facial display in cattle (Bos taurus Linnaeus) exists. The Facial Action Coding System (FACS), originally developed for humans, identifies distinct facial movements based on mimetic muscles.
Maja Söderlind +6 more
wiley +1 more source
BBC radio and sport 1922–39 [PDF]
, 2007 The BBC, the sole national broadcaster, was slow in entering the world of sport, but between the wars it helped reshape the way sport was experienced by the British, first presenting ‘national’ sports events such as the Derby or FA Cup final to a ...
Huggins, Mike
core +1 more source