المؤلفون: Hang Li, Qijun Li, Qin Weng, Ruixue Cui, Tzu-Chen Yen, Yanfeng Li

المصدر: Frontiers in Neurology, Vol 15 (2024)

مصطلحات موضوعية: Chinese pedigree, MAPT gene, progressive supranuclear palsy, E342K, 18F-florzolo-tau-PET, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fneur.2024.1372507/full; https://doaj.org/toc/1664-2295

URL الوصول: https://doaj.org/article/83fc6a4497e2497c864c7a08789e8213

المؤلفون: Zhang D, Xiao Z, Ouyang X, Wang X, Zhu Y, Yu S, Li C

المصدر: Clinical, Cosmetic and Investigational Dermatology, Vol Volume 16, Pp 1545-1548 (2023)

مصطلحات موضوعية: hailey-hailey disease, novel mutation, atp2c1, chinese pedigree, sanger sequencing, Dermatology, RL1-803

وصف الملف: electronic resource

Relation: https://www.dovepress.com/two-novel-and-a-recurrent-atp2c1-mutations-in-chinese-population-with--peer-reviewed-fulltext-article-CCID; https://doaj.org/toc/1178-7015

URL الوصول: https://doaj.org/article/e6415b6d01304a45bdb8580bd25c8aa9

المؤلفون: Mengfei Zhao, Runrun Zhang, Cen Chang, Yehua Jin, Lingxia Xu, Shicheng Guo, Steven Schrodi, Yong He, Dongyi He

المصدر: Frontiers in Medicine, Vol 10 (2023)

مصطلحات موضوعية: Czech dysplasia, COL2A1, whole exome-sequencing, mutation, Chinese pedigree, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fmed.2023.1244888/full; https://doaj.org/toc/2296-858X

URL الوصول: https://doaj.org/article/7393764bf2a041bb866d24a83dc1905c

المؤلفون: Yiran Han, Yajuan Zhao, Hua Wang, Liang Huo

المصدر: Frontiers in Pediatrics, Vol 10 (2022)

مصطلحات موضوعية: autosomal recessive inheritance, Chinese pedigree, febrile convulsions, HSH, novel mutation, TRPM6, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fped.2022.912524/full; https://doaj.org/toc/2296-2360

URL الوصول: https://doaj.org/article/c07dd164a9814ec9b817a497b8d96eb8

المؤلفون: Naihong Yan, Lirong Xiao, Chen Hou, Bo Guo, Wei Fan, Yingping Deng, Ke Ma

المصدر: BMC Medical Genetics, Vol 20, Iss 1, Pp 1-6 (2019)

مصطلحات موضوعية: Case report, Congenital nystagmus, Congenital cataracts, FRMD7, GJA8, Chinese pedigree, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s12881-019-0780-4; https://doaj.org/toc/1471-2350

URL الوصول: https://doaj.org/article/88990501a0ca49a5856c806873fb848d

المؤلفون: Jian Ding, Qin‐Fei Miao, Jing‐Wen Zhang, Yu‐Xiong Guo, Yu‐Xin Zhang, Qiong‐Xiang Zhai, Zhi‐Hong Chen

المصدر: Brain and Behavior, Vol 10, Iss 12, Pp n/a-n/a (2020)

مصطلحات موضوعية: Chinese pedigree, genetic epilepsy with febrile seizures plus (GEFS+), patch‐clamp technique, potassium voltage‐gated channel subfamily A regulatory beta subunit 3 (KCNAB3), whole‐exome sequencing, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2162-3279

URL الوصول: https://doaj.org/article/32dc8ef5151e48438e399dd6a0d9f7af

المؤلفون: Mengfei Zhao, Runrun Zhang, Cen Chang, Yehua Jin, Lingxia Xu, Shicheng Guo, Steven Schrodi, Yong He, Dongyi He

مصطلحات موضوعية: Dermatology, Emergency Medicine, Gastroenterology and Hepatology, Geriatrics and Gerontology, Intensive Care, Medical Genetics (excl. Cancer Genetics), Nephrology and Urology, Nuclear Medicine, Orthopaedics, Otorhinolaryngology, Pathology (excl. Oral Pathology), Radiology and Organ Imaging, Foetal Development and Medicine, Obstetrics and Gynaecology, Family Care, Primary Health Care, Medical and Health Sciences not elsewhere classified, Czech dysplasia, COL2A1, whole exome-sequencing, mutation, Chinese pedigree

Relation: https://figshare.com/articles/figure/Image_2_Case_report_Whole_exome_sequencing_and_genome-wide_methylation_profiling_of_Czech_dysplasia_in_a_Chinese_pedigree_JPEG/24482818

الاتاحة: https://doi.org/10.3389/fmed.2023.1244888.s002
https://figshare.com/articles/figure/Image_2_Case_report_Whole_exome_sequencing_and_genome-wide_methylation_profiling_of_Czech_dysplasia_in_a_Chinese_pedigree_JPEG/24482818

المؤلفون: Mengfei Zhao, Runrun Zhang, Cen Chang, Yehua Jin, Lingxia Xu, Shicheng Guo, Steven Schrodi, Yong He, Dongyi He

مصطلحات موضوعية: Dermatology, Emergency Medicine, Gastroenterology and Hepatology, Geriatrics and Gerontology, Intensive Care, Medical Genetics (excl. Cancer Genetics), Nephrology and Urology, Nuclear Medicine, Orthopaedics, Otorhinolaryngology, Pathology (excl. Oral Pathology), Radiology and Organ Imaging, Foetal Development and Medicine, Obstetrics and Gynaecology, Family Care, Primary Health Care, Medical and Health Sciences not elsewhere classified, Czech dysplasia, COL2A1, whole exome-sequencing, mutation, Chinese pedigree

Relation: https://figshare.com/articles/dataset/Table_1_Case_report_Whole_exome_sequencing_and_genome-wide_methylation_profiling_of_Czech_dysplasia_in_a_Chinese_pedigree_docx/24482821

الاتاحة: https://doi.org/10.3389/fmed.2023.1244888.s003
https://figshare.com/articles/dataset/Table_1_Case_report_Whole_exome_sequencing_and_genome-wide_methylation_profiling_of_Czech_dysplasia_in_a_Chinese_pedigree_docx/24482821

المؤلفون: Yi Dai, Yaling Ma, Shengde Li, Santasree Banerjee, Shengran Liang, Qing Liu, Yinchang Yang, Bin Peng, Liying Cui, Liri Jin

المصدر: Frontiers in Molecular Neuroscience, Vol 10 (2017)

مصطلحات موضوعية: autosomal dominant adult-onset demyelinating leukodystrophy (ADLD), LMNB1 gene, multiplex ligand-dependent probe amplification (MLPA), target exome capture, Chinese pedigree, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: http://journal.frontiersin.org/article/10.3389/fnmol.2017.00215/full; https://doaj.org/toc/1662-5099

URL الوصول: https://doaj.org/article/ecb5a40dd7234400b767caf1b82c656c

المؤلفون: Yiran Han, Yajuan Zhao, Hua Wang, Liang Huo

مصطلحات موضوعية: Foetal Development and Medicine, Obstetrics and Gynaecology, Paediatrics, Paediatrics and Reproductive Medicine not elsewhere classified, autosomal recessive inheritance, Chinese pedigree, febrile convulsions, HSH, novel mutation, TRPM6

Relation: https://figshare.com/articles/dataset/Table_1_Case_Report_Novel_TRPM6_Mutations_Cause_Hereditary_Hypomagnesemia_With_Secondary_Hypocalcemia_in_a_Chinese_Family_and_a_Literature_Review_doc/20289873

الاتاحة: https://doi.org/10.3389/fped.2022.912524.s001
https://figshare.com/articles/dataset/Table_1_Case_Report_Novel_TRPM6_Mutations_Cause_Hereditary_Hypomagnesemia_With_Secondary_Hypocalcemia_in_a_Chinese_Family_and_a_Literature_Review_doc/20289873

المؤلفون: Jing-Wen Zhang, Zhi-Hong Chen, Qin-Fei Miao, Qiong-Xiang Zhai, Yu-xiong Guo, Yu-Xin Zhang, Jian Ding

المصدر: Brain and Behavior
Brain and Behavior, Vol 10, Iss 12, Pp n/a-n/a (2020)

مصطلحات موضوعية: potassium voltage‐gated channel subfamily A regulatory beta subunit 3 (KCNAB3), Mutation, Missense, Biology, Gene mutation, medicine.disease_cause, 050105 experimental psychology, Seizures, Febrile, lcsh:RC321-571, law.invention, 03 medical and health sciences, Behavioral Neuroscience, symbols.namesake, 0302 clinical medicine, patch‐clamp technique, law, Convulsion, medicine, Missense mutation, Humans, 0501 psychology and cognitive sciences, lcsh:Neurosciences. Biological psychiatry. Neuropsychiatry, Gene, Polymerase chain reaction, Exome sequencing, Original Research, Sanger sequencing, Genetics, Mutation, Epilepsy, 05 social sciences, genetic epilepsy with febrile seizures plus (GEFS+), Pedigree, symbols, Shaker Superfamily of Potassium Channels, whole‐exome sequencing, Epilepsy, Generalized, medicine.symptom, Chinese pedigree, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5a839dbb4bcb176fc9799f6631cc6b5c
http://europepmc.org/articles/PMC7749510

المؤلفون: Shengran Liang, Yi Dai, Qing Liu, Yaling Ma, Liying Cui, Shengde Li, Santasree Banerjee, Yin-chang Yang, Liri Jin, Bin Peng

المصدر: Frontiers in Molecular Neuroscience, Vol 10 (2017)
Frontiers in Molecular Neuroscience

مصطلحات موضوعية: 0301 basic medicine, Proband, Pathology, medicine.medical_specialty, Pyramidal Tract Dysfunction, LMNB1 gene, Late onset, Neurological disorder, Biology, lcsh:RC321-571, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Gene duplication, medicine, Multiplex ligation-dependent probe amplification, Family history, Molecular Biology, lcsh:Neurosciences. Biological psychiatry. Neuropsychiatry, Original Research, multiplex ligand-dependent probe amplification (MLPA), Genetics, autosomal dominant adult-onset demyelinating leukodystrophy (ADLD), Leukodystrophy, target exome capture, medicine.disease, 030104 developmental biology, Chinese pedigree, 030217 neurology & neurosurgery, Neuroscience

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c1f575411345bc5a34071aaf81526baf
http://journal.frontiersin.org/article/10.3389/fnmol.2017.00215/full

المؤلفون: Zhi-Hong, Chen, Chun, Wang, Mu-Qing, Zhuo, Qiong-Xiang, Zhai, Qian, Chen, Yu-Xiong, Guo, Yu-Xin, Zhang, Juan, Gui, Zhi-Hong, Tang, Xiao-Lu, Zeng

المصدر: Oncotarget

مصطلحات موضوعية: autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE), whole-exome sequencing, Chinese pedigree, Research Paper, Ca2+-binding protein 4

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::82c37f12f9bfb3266eddbae0f75c7c21
https://pubmed.ncbi.nlm.nih.gov/29108277

المؤلفون: Hua Wang, Liang Huo, Ziteng Teng, Xueyan Liu

المصدر: Brain and Behavior

مصطلحات موضوعية: Adult, Male, Microcephaly, Adaptor Protein Complex sigma Subunits, Pettigrew Syndrome, Nonsense mutation, Reviews, Review, 050105 experimental psychology, 03 medical and health sciences, Behavioral Neuroscience, 0302 clinical medicine, Basal Ganglia Diseases, Seizures, Humans, Medicine, 0501 psychology and cognitive sciences, Child, Genetics, Splice site mutation, business.industry, Point mutation, 05 social sciences, Body Dysmorphic Disorders, medicine.disease, Hypotonia, Pedigree, Neurodevelopmental Disorders, Child, Preschool, Phosphopyruvate Hydratase, AP1S2 gene, Mutation, Mutation (genetic algorithm), Mental Retardation, X-Linked, X‐linked mental retardation, Female, Chinese pedigree, medicine.symptom, Abnormality, Dandy-Walker Syndrome, business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f804899430d6bacb5398dea2c9e6b61c
https://doi.org/10.1002/brb3.1221