Results 131 to 140 of about 387,299 (307)

Biallelic PIGB Variants Cause Motor Neuropathy with Conduction Blocks and Peripheral Nerve Hyperexcitability

Annals of Neurology, EarlyView.
Objective Glycosylphosphatidylinositol (GPI)‐anchored proteins play critical roles in nervous system function. Pathogenic variants in genes involved in GPI‐anchor biosynthesis cause early‐onset multisystem disorders known as inherited GPI deficiencies. We describe a novel neuromuscular phenotype associated with PIGB deficiency.
Gorka Fernández‐Eulate, Romain Duval, Marina Konyukh, Alessandro Bertini, Ayse Candayan, Albena Jordanova, Theresa Brunet, Wolfgang Müller‐Felber, Helena F. Pernice, Katrin Hahn, Nadja Ehmke, Juliane Beuschlein, Bertrand Isidor, Benjamin Cogné, Yann Péréon, Annabelle Chaussenot, John Rendu, Aysylu Murtazina, Dmitrii Subbotin, Artem Borovikov, Andrey Marakhonov, Chiara Pisciotta, Paola Saveri, Daniele Cazzato, Lucie Lemeray, Bérengère Koehl, Jean‐Madeleine de Sainte‐Agathe, Stefano Facchini, Ilaria Quartesan, Andrea Cortese, Yesim Parman, Arman Cakar, Davide Pareyson, Slim Azouzi, Tanya Stojkovic   +34 more
wiley   +1 more source

Congenital malformations [PDF]

Postgraduate Medical Journal, 1968
openaire   +2 more sources

Risk Factors For Congenital Heart Defects in Saudi Arabian Infants [PDF]

Two studies were undertaken. Firstly, congenital heart defect (CHD) data from the Saudi Arabian Congenital Heart Defects registry (CHD registry) were compared to data published by the Baltimore-Washington Infant Survey (BWIS) group and the European ...
Sandridge, Amy Leona
core   +1 more source

Methacrylated Gelatin and Graphene Oxide Hybrid Hydrogels Composed‐Bioinks for 3D Tissue Engineering

Advanced NanoBiomed Research, EarlyView.
Bioinks made from hydrogels, such as methacrylated gelatin (GelMA), serve as the base material for bioprinted tissues, offering versatility and biocompatibility for a range of applications. Additional components however are still needed to improve functionality and mechanical stability of hydrogels. One of these components is graphene oxide (GO), added
Wanessa S. Mota, Erika S. Lisboa, Victoria L. S. dos Santos, Carine Serafim, Maria L. F. Bezerra, Thais F. R. Alves, Marco V. Chaud, Frederico S. Martins, Juliana C. Cardoso, Eliana B. Souto, Patrícia Severino   +10 more
wiley   +1 more source

Major congenital malformations in neonates at U.T.H. Lusaka Zambia [PDF]

, 1977
The incidences of some common major malformations are compared with the other series in this paper.The purpose of this series of congenital malformations is to show the incidence of major congenital malformations in U.T.H., Lusaka and compare the ...
Sukhani, S., Yashvant Kumar, S.P., Chintu, C.   +2 more
core   +1 more source

One and a half ventricle repair: clinical and animal study [PDF]

, 2013
SUMMARY Since the first description of the so called “one and a half ventricle repair”, published by Billingsly et al. in 1989 1, this type of correction has been applied to several complex congenital cardiac anomalies.
Bhattarai, Anil
core  

Morphological and morphometric aspects of the equine aortic valve: New insights for comparative studies in mammals

The Anatomical Record, EarlyView.
Abstract New data on the equine aortic valve obtained using advanced techniques is especially important given the greater availability of animal models for translational research. Here we characterized the morphological and morphometric aspects of the equine aortic valve from 60 healthy hearts collected at equine abattoirs.
Vitor Pires Pereira, Victoria Brondani de Oliveira, Carlos Eduardo Seyfert, Luciano de Morais‐Pinto   +3 more
wiley   +1 more source

In silico analysis of mutation spectrum of Ehlers–Danlos, osteogenesis imperfecta, and cutis laxa overlapping phenotypes in Iranian population

Egyptian Journal of Medical Human Genetics
Background Ehlers–Danlos syndrome (EDS), osteogenesis imperfecta (OI), and cutis laxa (CL) are three rare and heterogeneous connective tissue disorders.
Teymoor Khosravi, Karim Naghipoor, Fatemeh Vaghefi, Ali Mohammad Falahati, Morteza Oladnabi   +4 more
doaj   +1 more source

Statistical shape modeling of the human inner ear through micro‐computed tomography imaging

The Anatomical Record, EarlyView.
In this study, 54 cadaveric temporal bone specimens underwent high‐resolution micro‐CT imaging. Images were semi‐automatically segmented and converted to 3D surface mesh models for morphological measurement and analysis. Statistical shape models were created for the inner ear, cochlea, and vestibular system, as well as for sex‐ and side‐based subgroups.
Carmine Spedaliere, Alexandra Vaupotic, Jaehyun Hwang, Khalil Husein, Mustafa Hafidh, Kyle Rioux, S. Alireza Rohani, Sumit K. Agrawal, Hanif M. Ladak   +8 more
wiley   +1 more source

The Prevalence and Perinatal Outcome of obvious Congenital Malformations among Inborn Babies at Aminu Kano Teaching Hospital, Kano

Nigerian Journal of Paediatrics
Background: The prevalence of congenital malformations varies from place to place. With a declining economy, increased utilization of traditional medications, and the traditional culture of consanguinity in Kano area, we decided to examine the incidence
Mukhtar - Yola M , Ibrahim M , Belonwu R , Farouk Z , Mohammed A   +4 more
doaj