Results 21 to 30 of about 28,149 (256)
The Tietz syndrome associated with cardiac malformation: a case report with literature review
The Egyptian Journal of Otolaryngology, 2021 Background Tietz syndrome is a very rare clinical entity characterized by the association of profound bilateral congenital sensorineural deafness and generalized hypopigmentation of skin, eyes, and integuments (snow white appearance).
Youssef Lakhdar +6 more
doaj +1 more source
Association between consanguinity and survival of marriages
Egyptian Journal of Medical Human Genetics, 2015 Background and purpose: The present study was performed to investigate the association between consanguineous marriages and divorce risk. Materials and methods: A total of 496 couples at divorce time and 800 couples from general population who have no ...
Mostafa Saadat
doaj +1 more source
Магија речи у приповеци Момчила Настасијевића Запис о даровима моје рођаке Марије
Poznańskie Studia Slawistyczne, 2013 Interpretation of Momčilo Nastasijević’s narrative „An Account of the Gifts of my Cousin Marija” indicated the significance of the storyteller’s belief in the magic of words and in calamitous effect of words on destiny – not only his own ...
Оливера Жижовић
doaj +1 more source
Advanced Engineering Materials, EarlyView.Digitalizing electroplating requires both domain knowledge and interoperability. This work introduces PlatOn, a domain ontology for trivalent chromium plating and coating characterization, and a hybrid pipeline that aligns it to a mid‐level reference ontology by combining eight similarity metrics with language model reasoning. Expert‐validated mappings
Janik Harter +10 more
wiley +1 more source
Miroirs, peignes et cosmétiques : objets de parure féminins dans les sanctuaires assyro-babyloniens
Cahiers Mondes Anciens, 2022 In Mesopotamia, statues are considered actual incarnations of the divinity, which must be sustained and clothed. Their temples therefore house real treasures, accumulations of wealth in the form of cult objects (sacred vessels made of silver or gold) or ...
Laura Cousin
doaj +1 more source
Advanced Science, EarlyView.An optimized Cas9‐enriched nanopore sequencing workflow, combined with STRiker, enables simultaneous analysis of disease‐associated STR loci from patient blood. The nCATS–STRiker workflow detects repeat expansions, de novo repeat motifs, interruption patterns, and methylation in a single assay, improving the genetic diagnosis of previously undiagnosed ...
Seungbok Lee +11 more
wiley +1 more source
TECTB Variants Reveal Tectorial Membrane Vulnerability in Dominant Non‐Syndromic Hearing Loss
Advanced Science, EarlyView.TECTB is a non‐collagenous protein of the tectorial membrane – an extracellular matrix of the cochlea. This study identifies dominant missense variants in TECTB linked to human hereditary deafness in two unrelated families. Genetically engineered mice homozygous for one of the variants are profoundly deaf, whereas heterozygous mice have normal hearing ...
Evan B. Hale +23 more
wiley +1 more source
Evolutionary Human SciencesAlthough still prevalent in many human societies, the practice of cousin marriage has precipitously declined in populations undergoing rapid demographic and socioeconomic change.
Arianna Dalzero +7 more
doaj +1 more source
Authorship, 2021 This article examines the publishing conditions and reception history of Sara Jeannette Duncan’s satirical novel Cousin Cinderella: A Canadian Girl in London (1908).
doaj +2 more sources
TTC21B: From Modifier to Causative Gene in Joubert Syndrome
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Biallelic pathogenic variants in TTC21B, encoding the retrograde intraflagellar transport protein IFT139, are a known cause of renal and skeletal ciliopathies. Single heterozygous variants in this gene were found to be enriched in a cohort of patients with various ciliopathy phenotypes, including three individuals with Joubert syndrome (JS), a
Valentina Serpieri +5 more
wiley +1 more source