المؤلفون: Lang Zhang, Jin-Yuan Yang, Qiu-Quan Wang, Xue Gao, Guo-Jian Wang, Ming-Yu Han, Dong-Yang Kang, Dong-Yi Han, Sha-Sha Huang, Yong-Yi Yuan

المصدر: BMC Medical Genomics, Vol 17, Iss 1, Pp 1-10 (2024)

مصطلحات موضوعية: Autosomal recessive inheritance, DFNB111, MPZL2, Moderate sensorineural hearing loss, Progressive hearing loss, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1755-8794Test

الوصول الحر: https://doaj.org/article/9056a91342b84ef7b12cc530b53a6390Test

المؤلفون: Ryan Colburn, David Lapidus

المصدر: Frontiers in Pediatrics, Vol 11 (2024)

مصطلحات موضوعية: Pompe (glycogen storage disease type 2/II), rare disease epidemiology, newborn screening (NBS), lysosomal storage disorder/disease (LSD), autosomal recessive inheritance, genetic prevalence, Pediatrics, RJ1-570

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fped.2023.1221140/fullTest; https://doaj.org/toc/2296-2360Test

الوصول الحر: https://doaj.org/article/3aa0d14cc7d64de3aada79283356595bTest

المؤلفون: Lang Zhang, Jin-Yuan Yang, Qiu-Quan Wang, Xue Gao, Guo-Jian Wang, Ming-Yu Han, Dong-Yang Kang, Dong-Yi Han, Sha-Sha Huang, Yong-Yi Yuan

مصطلحات موضوعية: Genetics, Autosomal recessive inheritance, DFNB111, MPZL2, Moderate sensorineural hearing loss, Progressive hearing loss

العلاقة: https://figshare.com/articles/journal_contribution/Additional_file_1_of_MPZL2_a_common_autosomal_recessive_deafness_gene_related_to_moderate_sensorineural_hearing_loss_in_the_Chinese_population/25045403Test

الإتاحة: https://doi.org/10.6084/m9.figshare.25045403.v1Test
https://figshare.com/articles/journal_contribution/Additional_file_1_of_MPZL2_a_common_autosomal_recessive_deafness_gene_related_to_moderate_sensorineural_hearing_loss_in_the_Chinese_population/25045403Test

المؤلفون: Maria Elena Onore, Martina Caiazza, Antonella Farina, Gioacchino Scarano, Alberto Budillon, Rossella Nicoletta Borrelli, Giuseppe Limongelli, Vincenzo Nigro, Giulio Piluso

المصدر: Genes, Vol 15, Iss 1, p 32 (2023)

مصطلحات موضوعية: Noonan syndrome, SPRED2, autosomal recessive inheritance, RASopathies, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/2073-4425/15/1/32Test; https://doaj.org/toc/2073-4425Test

الوصول الحر: https://doaj.org/article/9f2e20f70e7a40b1b9240288ad2f63bcTest

المؤلفون: Karimova Nigora Abdisamiyevna, Sadullayeva Umida Sobir qizi

مصطلحات موضوعية: Hereditary diseases, Autosomal recessive inheritance, Polygenic inheritance, Mitochondrial inheritance,Cystic fibrosis, Phenylketonuria, Leber's congenital amaurosis

العلاقة: https://zenodo.org/record/8279342Test; https://doi.org/10.5281/zenodo.8279342Test; oai:zenodo.org:8279342

الإتاحة: https://doi.org/10.5281/zenodo.8279342Test
https://doi.org/10.5281/zenodo.8279341Test
https://zenodo.org/record/8279342Test

المؤلفون: M. Arias, P. Mir, M. Fernández-Matarrubia, J. Arpa, R. García-Ramos, P. Blanco-Arias, B. Quintans, M.J. Sobrido

المصدر: Neurología, Vol 37, Iss 4, Pp 257-262 (2022)

مصطلحات موضوعية: Ataxia, Autosomal recessive inheritance, SYNE1, ARCA1, SCAR8, Sequencing, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S0213485319300507Test; https://doaj.org/toc/0213-4853Test

الوصول الحر: https://doaj.org/article/d55a76b6c6bd41bf8b3dc3ec22495091Test

المؤلفون: Mengting Tian, Yi Feng, Yanyan Liu, Hua Wang

المصدر: Frontiers in Endocrinology, Vol 13 (2023)

مصطلحات موضوعية: INS, diabetes homozygosity, diabetes treatment, diabetes follow-up, diabetes case study, autosomal recessive inheritance, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fendo.2022.1086785/fullTest; https://doaj.org/toc/1664-2392Test

الوصول الحر: https://doaj.org/article/ccff76bf41464104b29dcb5a3baa71b9Test

المؤلفون: Tesson, Christelle, Bouchetara, Mohamed Sofiane, Ferrien, Mélanie, Lesage, Suzanne, Brice, Alexis

المساهمون: Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Service de Neurologie, Etablissement hospitalo-universitaire, Oran, Part of this work was funded by grants from France Parkinson Association, Fondation de France (n° 00076353), la Fédération pour la Recherche sur le Cerveau (FRC), the program “Investissements d’avenir” (ANR-10-IAIHU-06).

المصدر: ISSN: 0885-3185.

مصطلحات موضوعية: Autosomal recessive inheritance, DAGLB, Early-onset, Parkinson disease Abbreviations: AR, autosomal recessive CNV, copy number variation EO, early-onset PD, Parkinson's disease WES, Whole Exome Sequencing, autosomal recessive, CNV, copy number variation, EO, PD, Parkinson's disease, WES, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]

العلاقة: info:eu-repo/semantics/altIdentifier/arxiv/2310.12521; hal-04236937; https://hal.sorbonne-universite.fr/hal-04236937Test; https://hal.sorbonne-universite.fr/hal-04236937/documentTest; https://hal.sorbonne-universite.fr/hal-04236937/file/DAGLB_final_English_correct_review_clean_HAL.pdfTest; ARXIV: 2310.12521

الإتاحة: https://doi.org/10.1002/mds.29533Test
https://hal.sorbonne-universite.fr/hal-04236937Test
https://hal.sorbonne-universite.fr/hal-04236937/documentTest
https://hal.sorbonne-universite.fr/hal-04236937/file/DAGLB_final_English_correct_review_clean_HAL.pdfTest

المؤلفون: Chenghu Wang, Weihua Yang, Xiumiao Li, Chenchen Zhou, Jinghua Liu, Ling Jin, Qin Jiang, Yun Wang

المصدر: Journal of Personalized Medicine; Volume 13; Issue 3; Pages: 442

مصطلحات موضوعية: aniridia, PAX6 gene, targeted gene capture sequencing, frameshift, autosomal recessive inheritance

وصف الملف: application/pdf

العلاقة: Methodology, Drug and Device Discovery; https://dx.doi.org/10.3390/jpm13030442Test

الإتاحة: https://doi.org/10.3390/jpm13030442Test

المؤلفون: Guoliang Jiang, Lijun Zou, Lingzhi Long, Yijun He, Xin Lv, Yuanyuan Han, Tingting Yao, Yan Zhang, Mao Jiang, Zhangzhe Peng, Lijian Tao, Wei Xie, Jie Meng

المصدر: Frontiers in Genetics, Vol 13 (2022)

مصطلحات موضوعية: primary ciliary dyskinesia, female infertility, DNAAF4 mutation, pathogenic mechanism, autosomal recessive inheritance, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2022.1087818/fullTest; https://doaj.org/toc/1664-8021Test

الوصول الحر: https://doaj.org/article/8556d4dc92d34b9a9ae9a65639ebdd0dTest