Results 11 to 20 of about 19,738 (160)
Management of functional neurological disorder. [PDF]
, 2020 Functional neurological disorder (FND) is a common cause of persistent and disabling neurological symptoms. These symptoms are varied and include abnormal control of movement, episodes of altered awareness resembling epileptic seizures and abnormal ...
Coebergh, JA +7 more
core +1 more source
Nosology of genetic skeletal disorders: 2023 revision
American Journal of Medical Genetics Part A, Volume 191, Issue 5, Page 1164-1209, May 2023., 2023 Abstract The “Nosology of genetic skeletal disorders” has undergone its 11th revision and now contains 771 entries associated with 552 genes reflecting advances in molecular delineation of new disorders thanks to advances in DNA sequencing technology.
Sheila Unger +20 more
wiley +1 more source
Al‐Gazali Skeletal Dysplasia Constitutes the Lethal End of ADAMTSL2‐Related Disorders
Journal of Bone and Mineral Research, Volume 38, Issue 5, Page 692-706, May 2023., 2023 ABSTRACT Lethal short‐limb skeletal dysplasia Al‐Gazali type (OMIM %601356), also called dysplastic cortical hyperostosis, Al‐Gazali type, is an ultra‐rare disorder previously reported in only three unrelated individuals. The genetic etiology for Al‐Gazali skeletal dysplasia has up until now been unknown.
Dominyka Batkovskyte +31 more
wiley +1 more source
Molecular Genetics &Genomic Medicine, Volume 10, Issue 11, November 2022., 2022 Abstract Background Hearing loss (HL) is a heterogeneous condition that causes partial or complete hearing impairment. Hundreds of variants in >60 genes have been reported to be associated with Hereditary HL (HHL), variants of the GJB2 gene are the most common cause of congenital SNHL, with >100 variants reported.
Omnia Elsayed, Aisha Al‐Shamsi
wiley +1 more source
Qatar genome: Insights on genomics from the Middle East
Human Mutation, Volume 43, Issue 4, Page 499-510, April 2022., 2022 Abstract Despite recent biomedical breakthroughs and large genomic studies growing momentum, the Middle Eastern population, home to over 400 million people, is underrepresented in the human genome variation databases. Here we describe insights from Phase 1 of the Qatar Genome Program with whole genome sequenced 6047 individuals from Qatar.
Hamdi Mbarek +23 more
wiley +1 more source
Genotype–phenotype correlates in Joubert syndrome: A review
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, Volume 190, Issue 1, Page 72-88, March 2022., 2022 Abstract Joubert syndrome (JS) is a genetically heterogeneous primary ciliopathy characterized by a pathognomonic cerebellar and brainstem malformation, the “molar tooth sign,” and variable organ involvement. Over 40 causative genes have been identified to date, explaining up to 94% of cases. To date, gene‐phenotype correlates have been delineated only
Simone Gana +2 more
wiley +1 more source
Tevilat, 2023 İslam tasavvuf düşüncesinin teşekkülünden bu yana sûfîler, nefsin en ağır hastalıklarından biri olan içinde kibir ve rablık iddiası barındıran yetkin olma arzusunun sebebini incelemişler ve söz konusu hastalığın kaynağını bulup o kaynağı kurutmak için ...
Ahmet Halil Utkuoğlu
doaj +1 more source
Human Behavior and Emerging Technologies, Volume 2022, Issue 1, 2022., 2022 The goal of this study is to find out what people think about cryptocurrencies and how they feel about it. The study used a questionnaire to assess the factors that influence people’s willingness to accept cryptocurrency. The study used a pretest, posttest quantitative analysis to determine the level of awareness among users in the first phase.
Saher Zeast Hasan +4 more
wiley +1 more source
KONSEP KEBAHAGIAAN MENURUT AL-GHAZALI DALAM KIMIYA AS-SA’ADAH DAN RELEVANSINYA TERHADAP RUMAH TANGGA
El-Fikr, 2021 In the course of the household not all can feel happiness. Of course there are several factors that result in households not being able to achieve happiness, the cause of unhappiness may be due to economic factors, incompatibility between partners, not ...
Nadia Safitri, Idrus Al-Kaf
doaj +1 more source
Demand for Imported versus Domestic Fish in Nigeria
Journal of Agricultural Economics, Volume 72, Issue 3, Page 782-804, September 2021., 2021 Abstract Fish is among the most important animal‐sourced foods in Africa and is crucial in combatting malnutrition. Fish demand in Africa has far outpaced supply as the import share rose from 16% in 1970 to 39% by 2017. Little is known about who is consuming the imports: rural versus urban, rich versus poor.
Lenis Saweda O. Liverpool‐Tasie +3 more
wiley +1 more source