المؤلفون: Joel Hooper, Marzieh Azarbadegan, Evie Cogley, Michelle Mackie, Nathan Bransden, Department for Education (DfE) (United Kingdom), Ipsos

المصدر: UK Department for Education. 2024.

Peer Reviewed: N

Page Count: 45

Descriptors: Foreign Countries, Genetics, Genetic Disorders, Congenital Impairments, Educational Diagnosis, Early Intervention, Testing Programs, Ethics, At Risk Students, Risk Assessment, Educational Opportunities

مصطلحات جغرافية: United Kingdom

المؤلفون: Guglielmino, Valeria¹ (AUTHOR), Vitali, Francesca¹ (AUTHOR), Romano, Angela² (AUTHOR), Primiano, Guido^1,3 (AUTHOR), Sciarrone, Maria Ausilia¹ (AUTHOR), Luigetti, Marco^1,2 (AUTHOR) mluigetti@gmail.com

المصدر: Neurology & Therapy. Feb2025, Vol. 14 Issue 1, p71-84. 14p.

مصطلحات موضوعية: *CARDIAC amyloidosis, *GENETIC disorders, *TRANSTHYRETIN, *NERVOUS system, *DISEASE management

المؤلفون: Patel, Ruchee¹ (AUTHOR), Mukherjee-Clavin, Bipasha¹ (AUTHOR) bmukher2@jhmi.edu

المصدر: Seminars in Neurology. Feb2025, Vol. 45 Issue 1, p88-98. 11p.

مصطلحات موضوعية: *GENE therapy, *GENETIC disorders, *POLYNEUROPATHIES, *NEUROLOGISTS, *NEUROPATHY

المؤلفون: Meroni, Marica¹ (AUTHOR), Longo, Miriam¹ (AUTHOR), Paolini, Erika¹ (AUTHOR), Dongiovanni, Paola¹ (AUTHOR) paola.dongiovanni@policlinico.mi.it

المصدر: Journal of Advanced Research. Feb2025, Vol. 68, p231-240. 10p.

مصطلحات موضوعية: *GENETIC disorders, *COGNITIVE processing speed, *FECAL microbiota transplantation, *MENTAL illness, *COGNITION disorders, *BLOOD-brain barrier

المؤلفون: Li, Mingxi^1,2 (AUTHOR), Qu, Kang¹ (AUTHOR), Wang, Yueyuan³ (AUTHOR), Wang, Yongchun^1,2 (AUTHOR), Shen, Yanxin^1,2 (AUTHOR), Sun, Li^1,2 (AUTHOR) sunli99@jlu.edu.cn

المصدر: Journal of Affective Disorders. Feb2025, Vol. 370, p547-556. 10p.

مصطلحات موضوعية: *GENETIC disorders, *MENDELIAN randomization, *GENOME-wide association studies, *NEUROLOGICAL disorders, *GENETIC correlations, *POST-traumatic stress disorder

المؤلفون: Ambrosio, Lucia^1,2 (AUTHOR) lucia.ambrosio@unina.it, Perepelkina, Tatiana³ (AUTHOR), Elhusseiny, Abdelrahman M.^4,5,6 (AUTHOR) amelhusseiny@uams.edu, Fulton, Anne B.^5,6 (AUTHOR), Gonzalez Monroy, Jose Efren^5,6 (AUTHOR)

المصدر: Journal of Clinical Medicine. Jan2025, Vol. 14 Issue 2, p614. 22p.

مصطلحات موضوعية: *STARGARDT disease, *GENETIC disorders, *VISION disorders, *RETINAL diseases, *MACULAR degeneration

المؤلفون: Kunčič, Ajda¹ (AUTHOR) ajda.kuncic@mf.uni-lj.si, Urbančič, Mojca^2,3 (AUTHOR) mojca.urbancic@kclj.si, Dobovšek Divjak, Darja^2,3 (AUTHOR) darja.dobovsekdivjak@kclj.si, Hudler, Petra¹ (AUTHOR) petra.hudler@mf.uni-lj.si, Debeljak, Nataša¹ (AUTHOR) natasa.debeljak@mf.uni-lj.si

المصدر: International Journal of Molecular Sciences. Jan2025, Vol. 26 Issue 2, p684. 19p.

مصطلحات موضوعية: *RETINAL diseases, *GENETIC disorders, *LIPID metabolism, *DISEASE susceptibility, *NEUROLOGICAL disorders

المؤلفون: Chekr, Jebran¹ (AUTHOR) jebranchekr4@gmail.com, Andraws, Jan¹ (AUTHOR) jandraws2001@gmail.com, Elias, Jubran¹ (AUTHOR) jubrane390@gmail.com, Alasmar, Diana² (AUTHOR) alasmar.diana@gmail.com

المصدر: Journal of Medical Case Reports. 1/15/2025, Vol. 19 Issue 1, p1-5. 5p.

مصطلحات موضوعية: *PALMOPLANTAR keratoderma, *GENETIC disorders, *NEUTROPENIA, *GENETIC mutation, *DISEASE relapse

المؤلفون: Chang, Kaihui^1,2,3 (AUTHOR), Jian, Xuemin^1,4 (AUTHOR), Wu, Chuanhong^1,2 (AUTHOR), Gao, Chengwen¹ (AUTHOR), Li, Yafang^1,2 (AUTHOR), Chen, Jianhua^4,5 (AUTHOR), Xue, Baiqiang^1,6 (AUTHOR), Ding, Yonghe^1,6 (AUTHOR), Peng, Lixia^1,7 (AUTHOR), Wang, Baokun^1,7 (AUTHOR), He, Lin⁴ (AUTHOR), Xu, Yifeng⁵ (AUTHOR), Li, Changgui⁸ (AUTHOR), Li, Xingwang⁴ (AUTHOR), Wang, Zhuo⁴ (AUTHOR), Zhao, Xiangzhong¹ (AUTHOR), Pan, Dun⁴ (AUTHOR), Yang, Qiangzhen⁴ (AUTHOR), Zhou, Juan⁴ (AUTHOR), Zhu, Zijia⁴ (AUTHOR)

المصدر: Biological Psychiatry. Jan2025, Vol. 97 Issue 2, p198-207. 10p.

مصطلحات موضوعية: *FISHER exact test, *GENETIC disorders, *ODDS ratio, *NEUROBEHAVIORAL disorders, *MOSAICISM

المؤلفون: Holm-Mercer, Leah^1,2 (AUTHOR), Coysh, Thomas^1,2 (AUTHOR), Mok, Tze How^1,2 (AUTHOR), Rudge, Peter^1,2 (AUTHOR), Reisz, Zita³ (AUTHOR), Troakes, Claire⁴ (AUTHOR), Al-Sarraj, Safa³ (AUTHOR), Campbell, Tracy¹ (AUTHOR), Hosszu, Laszlo L.P.¹ (AUTHOR), Bieschke, Jan¹ (AUTHOR), Zhang, Fuquan¹ (AUTHOR), Wadsworth, Jonathan D.F.¹ (AUTHOR), Smith, Colin⁵ (AUTHOR), Jenkinson, Jenna⁵ (AUTHOR), Rittman, Timothy^6,7 (AUTHOR), Brandner, Sebastian^8,9 (AUTHOR), Jaunmuktane, Zane^8,10 (AUTHOR), Collinge, John^1,2 (AUTHOR), Mead, Simon^1,2 (AUTHOR) s.mead@prion.ucl.ac.uk

المصدر: Journal of Neurogenetics. Jan2025, p1-7. 7p. 3 Illustrations.

مصطلحات موضوعية: *PRION diseases, *GENETIC disorders, *MISSENSE mutation, *NEURODEGENERATION, *PHENOTYPES

المؤلفون: Mudassir, Behjat Ul¹ (AUTHOR), Mudassir, Mujaddid² (AUTHOR), Williams, Jamal B.³ (AUTHOR) jbwillia@buffalo.edu, Agha, Zehra³ (AUTHOR) zehranajam@gmail.com

المصدر: PLoS ONE. 1/8/2025, Vol. 20 Issue 1, p1-17. 17p.

مصطلحات موضوعية: *GENETIC disorders, *AMINO acid residues, *PROTEIN genetics, *RNA-binding proteins, *DISABILITIES, *ZINC-finger proteins

المؤلفون: Hayes, Hattie

المصدر: Ophthalmology Times Europe. Jan/Feb2025, Vol. 21 Issue 1, p16-19. 4p.

مصطلحات موضوعية: *EYE diseases, *GENETIC disorders, *OPHTHALMOLOGISTS, *RETINA, *MEDICAL personnel

المؤلفون: Baikova, Iuliia P.¹ (AUTHOR) baykjulia@gmail.com, Ilchuk, Leonid A.^1,2 (AUTHOR) pdsafonova@gmail.com, Safonova, Polina D.² (AUTHOR), Varlamova, Ekaterina A.^1,3 (AUTHOR) katerinavarlamova196@gmail.com, Okulova, Yulia D.^1,2 (AUTHOR) ul.okulova@gmail.com, Kubekina, Marina V.^1,2 (AUTHOR) annatvor@mail.ru, Tvorogova, Anna V.¹ (AUTHOR) sv.daria.m@gmail.com, Dolmatova, Daria M.^1,2 (AUTHOR) aleabruter@gmail.com, Bakaeva, Zanda V.^4,5 (AUTHOR) zv.bakaeva@gmail.com, Kislukhina, Evgenia N.⁴ (AUTHOR) kislukhina.en@yandex.ru, Lizunova, Natalia V.⁴ (AUTHOR), Bruter, Alexandra V.^1,3 (AUTHOR), Silaeva, Yulia Yu.^1,2 (AUTHOR) yulya.silaeva@gmail.com

المصدر: International Journal of Molecular Sciences. Jan2025, Vol. 26 Issue 1, p158. 17p.

مصطلحات موضوعية: *X-linked genetic disorders, *DUCHENNE muscular dystrophy, *ALTERNATIVE RNA splicing, *DYSTROPHIN genes, *GENE therapy, *FRAMESHIFT mutation

المؤلفون: Mangali, Navya Paulson¹ (AUTHOR) navyapaulson025@gmail.com, Antony, Amal¹ (AUTHOR) dramalantony@gmail.com, Kumar, Nidhi¹ (AUTHOR) kumarmnidhi@gmail.com

المصدر: Pediatric Radiology. Jan2025, Vol. 55 Issue 1, p195-200. 6p.

مصطلحات موضوعية: *SENSORINEURAL hearing loss, *GENETIC disorders, *HEARING disorders, *COCHLEA, *ETIOLOGY of diseases

المؤلفون: Baloch, Imamuddin¹ surgeon.imam80@gmail.com, Shaikh, Bushra¹, Shah, Azhar Ali², Mirani, Abdul Sami¹, Bijarani, Farman Ali³, Faisal, Lubna⁴, Azhar, Nosheen⁵

المصدر: Professional Medical Journal. Jan2025, Vol. 32 Issue 1, p1-5. 5p.

مصطلحات موضوعية: *INGUINAL hernia, *GENETIC disorders, *HERNIA, *SURGICAL emergencies, *FAMILY history (Sociology)

المؤلفون: Frazier, Zoë J.¹ (AUTHOR), Kilic, Seyda² (AUTHOR), Osika, Hailey¹ (AUTHOR), Mo, Alisa³ (AUTHOR), Quinn, Meg¹ (AUTHOR), Ballal, Sonia⁴ (AUTHOR), Katz, Tamar⁵ (AUTHOR), Shearer, A. Eliot⁶ (AUTHOR), Horlbeck, Max A.⁷ (AUTHOR), Pais, Lynn S.^7,8 (AUTHOR), Dies, Kira A.¹ (AUTHOR), O'Donnell‐Luria, Anne^7,8 (AUTHOR), Kossowsky, Joe⁹ (AUTHOR), Lipton, Jonathan O.^1,3 (AUTHOR), Kleefstra, Tjitske^10,11 (AUTHOR), Srivastava, Siddharth^1,3 (AUTHOR) siddharth.srivastava@childrens.harvard.edu

المصدر: Clinical Genetics. Jan2025, p1. 10p. 2 Illustrations.

مصطلحات موضوعية: *GENETIC disorders, *HEARING disorders, *CEREBRAL atrophy, *AUTISM spectrum disorders, *CHILDREN'S hospitals

المؤلفون: Brain, Caroline¹, Grey, Joanna² jo.grey@amend.org.uk, Purnell, Kirstie²

المصدر: Endocrine-Related Cancer. Jan2025, Vol. 32 Issue 1, p1-6. 6p.

مصطلحات موضوعية: *HIRSCHSPRUNG'S disease, *GENETIC disorders, *MEDULLARY thyroid carcinoma, *PATIENT experience, *NEUROENDOCRINE tumors

المؤلفون: Satekge, Tumelo M.¹ (AUTHOR) tumelo.satekge@nhls.ac.za, Rikhotso, Glenrose² (AUTHOR), Rossouw, Bianca³ (AUTHOR), Dillon, Bronwyn³ (AUTHOR), Baine-Savanhu, Fiona³ (AUTHOR)

المصدر: Egyptian Journal of Medical Human Genetics. 12/30/2024, Vol. 25 Issue 1, p1-7. 7p.

مصطلحات موضوعية: *MEDICAL sciences, *GENETIC disorders, *MEDICAL genetics, *SENSORINEURAL hearing loss, *CONGENITAL disorders, *DYSPLASIA

المؤلفون: Yong Jin¹, Jiayu Xing¹, Chenyu Dai², Lei Jin^3,4, Wanying Zhang¹, Qianqian Tao^3,4, Mei Hou¹, Ziyi Li^3,4, Wen Yang^1,5,6 woodeasy66@hotmail.com, Qiyu Feng¹ qiyufeng@ustc.edu.cn, Hongyang Wany^1,5,6 hywangk@vip.sina.com, Qingsheng Yu^2,3 qsy6312@163.com

المصدر: eLife. 12/30/2024, p1-23. 23p.

مصطلحات موضوعية: *HEPATOLENTICULAR degeneration, *GENETIC disorders, *LIVER cells, *RNA sequencing, *CELL physiology

المؤلفون: Kim, Ji-il^1,2 (AUTHOR), Miura, Yuki^1,2 (AUTHOR), Li, Min-Yin^1,2 (AUTHOR), Revah, Omer^1,2,3 (AUTHOR), Selvaraj, Sridhar⁴ (AUTHOR), Birey, Fikri^1,2 (AUTHOR), Meng, Xiangling^1,2 (AUTHOR), Thete, Mayuri Vijay^1,2 (AUTHOR), Pavlov, Sergey D.^1,2 (AUTHOR), Andersen, Jimena^1,2 (AUTHOR), Pașca, Anca M.⁴ (AUTHOR), Porteus, Matthew H.⁴ (AUTHOR), Huguenard, John R.³ (AUTHOR), Pașca, Sergiu P.^1,2 (AUTHOR) spasca@stanford.edu

المصدر: Neuron. Dec2024, Vol. 112 Issue 24, p4048-40405. 36358p.

مصطلحات موضوعية: *GENETIC disorders, *NEUROBEHAVIORAL disorders, *GENETIC variation, *INTELLECTUAL disabilities, *PHENOTYPES, *CALCIUM channels, *THALAMIC nuclei