Outline
DOI: 10.3390/genes14122160 ISSN: 2073-4425
Comment on Di Giosaffatte et al. A Novel Hypothesis on Choroideremia-Manifesting Female Carriers: Could CHM In-Frame Variants Exert a Dominant Negative Effect? A Case Report. Genes 2022, 13, 1268
Lewis E. Fry, Robert E. MacLaren- Genetics (clinical)
- Genetics
The recent publication of Di Giosaffatte et al. [...]
More from our Archive
- DOI: 10.3390/genes14122164 2023The Genetic Diversity of White-Backed Planthoppers (Sogatella furcifera) between Myanmar and Yunnan Province of ChinaYue Liu, Khin Nyein Chan, Xiangyong Li, Xueqing Zhao, Dong Chu, Yanqiong Yin, Ying Liu, Aidong Chen
- DOI: 10.3390/genes14122166 2023Evaluation of Optical Genome Mapping in Clinical Genetic Testing of Facioscapulohumeral Muscular DystrophyAnja Kovanda, Luca Lovrečić, Gorazd Rudolf, Ivana Babic Bozovic, Helena Jaklič, Lea Leonardis, Borut Peterlin
- DOI: 10.3390/genes14122165 2023Comparative Transcriptomic Assessment of Chemosensory Genes in Adult and Larval Olfactory Organs of Cnaphalocrocis medinalisHai-Tao Du, Jia-Qi Lu, Kun Ji, Chu-Chu Wang, Zhi-Chao Yao, Fang Liu, Yao Li
- DOI: 10.2174/0113892029268949231104165301 2023Identification of Two Novel Pathogenic Variants of the ATM Gene in the Iranian-Azeri Turkish Ethnic Group by Applying Whole Exome SequencingAmir-Reza Dalal Amandi, Neda Jabbarpour, Shadi Shiva, Mortaza Bonyadi
- DOI: 10.1002/aur.3055 2023Auditory language comprehension among children and adolescents with autism spectrum disorder: An
ALE meta‐analysis offMRI studiesZihui Hua, Jun Hu, Huanke Zeng, Jiahui Li, Yibo Cao, Yiqun Gan - DOI: 10.1002/aur.3056 2023Association of cognitive and adaptive skills with internalizing and externalizing problems in autistic children and adolescentsJaviera Donoso, Fiona Rattray, Annelies de Bildt, Julian Tillmann, Penny Williams, Michael Absoud, Vasiliki Totsika
- DOI: 10.1002/aur.3059 2023Does camouflaging predict age at autism diagnosis?
A comparison of autistic men and womenVictoria Milner, Emma Colvert, Laura Hull, Julia Cook, Dorota Ali, William Mandy, Francesca Happé - DOI: 10.3390/genes14122162 2023Navigating the Complex Landscape of Fibrodysplasia Ossificans Progressiva: From Current Paradigms to Therapeutic FrontiersSaeed Anwar, Toshifumi Yokota
- DOI: 10.1093/mutage/gead035 2023Maternal exercise during pregnancy modulates genotoxicity caused by high fructose consumption in mice offspringMarina Lummertz Magenis, Adriani Paganini Damiani, Isadora de Oliveira Monteiro, Ligia Salvan Dagostin, Nicollas dos Santos da Silva, Rahisa Scussel, Seigo Nagashima, Sabine A S Langie, Ricardo Aurino Pinho, Vanessa Moraes de Andrade
- DOI: 10.1111/hae.14895 2023Association of patient, treatment and disease characteristics with patient‐reported outcomes: Results of the ECHO RegistryCharles R. M. Hay, Michael Makris, Midori Shima, Azusa Nagao, Víctor Jiménez‐Yuste, Mark Skinner, Craig M. Kessler, Sylvia von Mackensen