Results 101 to 110 of about 341,333 (296)

Fibroblast Transcriptomics in Molecular Diagnostics of a Comprehensive Dystonia Cohort

Annals of Neurology, EarlyView.
Objective Genomic sequencing leaves >50% of dystonia‐affected individuals without a diagnosis. Where DNA‐oriented approaches remain insufficient, integrating multiomics is essential to advance genome interpretation. Herein, we incorporated RNA sequencing (RNA‐seq) data from 167 patients with dystonia across a range of ages and presentations. Methods We
Alice Saparov, Ivana Dzinovic, Theresa Brunet, Vicente A. Yépez, Florian Hölzlwimmer, Elisabetta Indelicato, Birgit Assmann, Susann Badmann, Diana Ballhausen, Steffen Berweck, Felix Brechtmann, Melanie Brugger, Kevork Derderian, Felix Distelmaier, Philip Harrer, Denisa Harvanova, Petra Havrankova, Ann‐Kathrin Jaroszynski, Miriam Kolnikova, Robert Kopajtich, Anne Koy, Magdalena Krygier, Lukas Kunc, Katarina Kusikova, Oliver Maier, Maria Mazurkiewicz‐Bełdzińska, Christian Mertes, Ava Oberlack, Timo Roser, Alexandra Sitzberger, Ugo Sorrentino, Antonia M. Stehr, Katharina Vill, Matias Wagner, Holger Prokisch, Sylvia Boesch, Jan Necpal, Robert Jech, Juliane Winkelmann, Elisabeth Graf, Julien Gagneur, Matej Skorvanek, Michael Zech   +42 more
wiley   +1 more source

Ontogeny of the malleus in Mesocricetus auratus (Mammalia, Rodentia): Systematic and functional implications for the muroid middle ear

The Anatomical Record, EarlyView.
Abstract The three mammalian auditory ossicles enhance sound transmission from the tympanic membrane to the inner ear. The anterior anchoring of the malleus is one of the key characters for functional classification of the auditory ossicles. Previous studies revealed a medial outgrowth of the mallear anterior process, the processus internus ...
Franziska Fritzsche, Wolfgang Maier, Irina Ruf   +2 more
wiley   +1 more source

Educación prenatal y Pedagogía prenatal

Revista Iberoamericana de Educación, 2015
El artículo tiene como objetivo analizar posibilidades de desarrollo de la educación prenatal desde la Pedagogía junto a las demás ciencias que se ocupan de ella. Para ello se definirán nuevas perspectivas de comprensión, investigación y desarrollo de la educación prenatal desde la Pedagogía.
openaire   +3 more sources

Trabecular bone ontogeny of the human talus

The Anatomical Record, EarlyView.
Abstract Studies of trabecular ontogeny may provide insight into the factors that drive healthy bone development. There is a growing understanding of how the juvenile skeleton responds to these influences; however, gaps in our knowledge remain. This study aims to identify ontogenetic trabecular patterns and regional changes during development within ...
Rebecca A. G. Reid, Catriona Davies, Craig Cunningham   +2 more
wiley   +1 more source

Health disparities in chronic liver disease

Hepatology, EarlyView., 2022
Abstract The syndemic of hazardous alcohol consumption, opioid use, and obesity has led to important changes in liver disease epidemiology that have exacerbated health disparities. Health disparities occur when plausibly avoidable health differences are experienced by socially disadvantaged populations.
Ani Kardashian, Marina Serper, Norah Terrault, Lauren D. Nephew   +3 more
wiley   +1 more source

Diagnóstico Prenatal de Fibroelastosis Endocardica

, 2021
Freddy Maita Quispe
openalex   +2 more sources

Evaluation of IHH, PTCH1, and SMO protein immunohistochemistry in the human mandibular condyle at fetal stages from 30 to 80 mm greatest length

The Anatomical Record, EarlyView.
Abstract This study evaluated the morphogenesis of the temporomandibular joint (TMJ) in human fetuses during the third month of gestation through the analysis of immunohistochemistry for the proteins Indian Hedgehog (IHH), Patched‐1 (PTCH1), and Smoothened (SMO).
Filipe Santos da Silva, Carolina de Oliveira Gigek, Andreia Fabiana Do Vale Franco, Amanda Alves Ribeiro Massoni, José Ramon Mérida‐Velasco, Luís Otávio Carvalho de Moraes   +5 more
wiley   +1 more source

Genetic analysis of albinism caused by compound heterozygous mutations of the OCA2 gene in a Chinese family

Hereditas
Background Oculocutaneous albinism (OCA) is a group of rare genetic disorders characterized by a reduced or complete lack of melanin in the skin, hair, and eyes. Patients present with colorless retina, pale pink iris, and pupil, and fear of light.
Yanan Wang, Yujie Chang, Mingya Gao, Weiwei Zang, Xiaofei Liu   +4 more
doaj   +1 more source

Ontogeny of murine bony semicircular canal form

The Anatomical Record, EarlyView.
Abstract The labyrinthine geometry and functional anatomy of the semicircular canals have intrigued scientists for decades, and there has been considerable interest in understanding how these complex structures grow and develop with evidence emerging from human studies that size maturation occurs exceptionally early by comparison with other systems ...
Marcela Cárdenas‐Serna, Nathan Jeffery   +1 more
wiley   +1 more source

Single-cell RNA sequencing reveals cellular and molecular landscape of fetal cystic hygroma

BMC Medical Genomics
Background The molecular mechanism of fetal cystic hygroma (CH) is still unclear, and no study has previously reported the transcriptome changes of single cells in CH.
Fang Fu, Xin Yang, Ru Li, Yingsi Li, Hang Zhou, Ken Cheng, Ruibin Huang, You Wang, Fei Guo, Lina Zhang, Min Pan, Jin Han, Li Zhen, Lushan Li, Tingying Lei, Dongzhi Li, Can Liao   +16 more
doaj   +1 more source