المؤلفون: Gudrun Schottmann, Carmen Martínez Almudéver, Julia C. M. Knop, Eun Kyung Suk, Zianka Meyer, Jürgen Kohlhase, Nastassja Himmelreich, Jirko Kühnisch, Claus-Eric Ott, Wenke Seifert

المصدر: Frontiers in Neuroscience, Vol 18 (2024)

مصطلحات موضوعية: VPS13B, Cohen syndrome, missense variant, functional testing, Golgi complex, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fnins.2024.1488133/full; https://doaj.org/toc/1662-453X

URL الوصول: https://doaj.org/article/82687391224c45b8a7d66b0cc0823b37

المؤلفون: Xinming Li, Sufang Qi, Wenjie Li, Xin Liu, Zhicheng Xue, Tiangui Yu, Guanglei Xun

المصدر: BMC Psychiatry, Vol 24, Iss 1, Pp 1-5 (2024)

مصطلحات موضوعية: Cohen syndrome, Psychiatric symptoms, Gene mutation, Psychiatry, RC435-571

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1471-244X

URL الوصول: https://doaj.org/article/912f8d0b45a5418bac27e6dfad0dd1ad

المؤلفون: Rodrigo Manuel Robalo Curado Vilares Morgado, Ana Margarida Ferreira, Renato Santos-Silva, Rita Quental, Angela Carneiro, Sérgio Estrela-Silva

المصدر: Case Reports in Ophthalmology, Vol 14, Iss 1, Pp 519-527 (2023)

مصطلحات موضوعية: cohen syndrome, pigmentary retinopathy, vsp13b, rod-cone dystrophy, Ophthalmology, RE1-994

وصف الملف: electronic resource

Relation: https://beta.karger.com/Article/FullText/533974; https://doaj.org/toc/1663-2699

URL الوصول: https://doaj.org/article/5972c07ec35447f282b072e3b82a7d22

المؤلفون: Charlotte Montillot, Emilia Skutunova, Ayushma, Morgane Dubied, Adam Lahmar, Sylvie Nguyen, Benazir Peerally, Fabrice Prin, Yannis Duffourd, Christel Thauvin-Robinet, Laurence Duplomb, Heng Wang, Muhammad Ansar, Laurence Faivre, Nicolas Navarro, Shilpi Minocha, Stephan C. Collins, Binnaz Yalcin

المصدر: Neurobiology of Disease, Vol 185, Iss , Pp 106259- (2023)

مصطلحات موضوعية: Brain neuroanatomical phenotyping, Cohen syndrome, Mouse mutants, Neurodegeneration, VPS13B, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S0969996123002747; https://doaj.org/toc/1095-953X

URL الوصول: https://doaj.org/article/f9f8187efd4345399a21f8121cc60521

المؤلفون: Kang Li, Ma Yixuan, Zhao Peng

المصدر: Translational Neuroscience, Vol 14, Iss 1, Pp e3330-4 (2023)

مصطلحات موضوعية: cohen syndrome, mutation, vps13b gene, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2081-6936

URL الوصول: https://doaj.org/article/9a6824c2db69492d9e9dd5dd8e24b551

المؤلفون: Yanping Shu, Yongzhe Hou, Qin Zhang

المصدر: Asian Journal of Surgery, Vol 46, Iss 12, Pp 5909-5910 (2023)

مصطلحات موضوعية: VPS13B gene, Cohen syndrome, KRT9 gene, Epidermolytic palmoplantar keratoderma, Genetic mutation, Surgery, RD1-811

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S1015958423013829; https://doaj.org/toc/1015-9584

URL الوصول: https://doaj.org/article/d31e8651e1ed4162acaba3a931b52344

المؤلفون: Alyssa Zoto, Chelsea Stecklein, Michael A. Scott, Thomas R. Bauer Jr., Cynthia Lucidi, Harry Cridge

المصدر: Journal of Veterinary Internal Medicine, Vol 36, Iss 6, Pp 2170-2176 (2022)

مصطلحات موضوعية: bone marrow, Cohen syndrome, ineffective myelopoiesis, neutropenia, VPS13B, Veterinary medicine, SF600-1100

وصف الملف: electronic resource

Relation: https://doaj.org/toc/0891-6640; https://doaj.org/toc/1939-1676

URL الوصول: https://doaj.org/article/8c753085808b43699a0e21176720e377

المؤلفون: Hu X, Huang T, Liu Y, Zhang L, Zhu L, Peng X, Zhang S

المصدر: Pharmacogenomics and Personalized Medicine, Vol Volume 14, Pp 1583-1589 (2021)

مصطلحات موضوعية: cohen syndrome, vps13b gene, heterozygous mutation, heterozygous deletion, Therapeutics. Pharmacology, RM1-950

وصف الملف: electronic resource

Relation: https://www.dovepress.com/identification-of-a-novel-vps13b-mutation-in-a-chinese-patient-with-co-peer-reviewed-fulltext-article-PGPM; https://doaj.org/toc/1178-7066

URL الوصول: https://doaj.org/article/d34b9c09195548ef8bc624ffe0afb0ff

المؤلفون: Alice AbdelAleem, Naim Haddad, Ghada Al-Ettribi, Amy Crunk, Ahmed Elsotouhy

مصطلحات موضوعية: Biological sciences, Genetics, Biomedical and clinical sciences, Neurosciences, Autism, Cohen syndrome, Multifocal epilepsy, NAPB, Sexual arousal, SNARE complex, VPS13B

Relation: https://figshare.com/articles/journal_contribution/Cohen_syndrome_and_early-onset_epileptic_encephalopathy_in_male_triplets_two_disease-causing_mutations_in_VPS13B_and_NAPB/24980856

الاتاحة: https://doi.org/10.1007/s10048-023-00710-2
https://figshare.com/articles/journal_contribution/Cohen_syndrome_and_early-onset_epileptic_encephalopathy_in_male_triplets_two_disease-causing_mutations_in_VPS13B_and_NAPB/24980856

المؤلفون: Tatiana A. Shnaider, Anna A. Khabarova, Ksenia N. Morozova, Anastasia M. Yunusova, Sophia A. Yakovleva, Anastasia S. Chvileva, Ekaterina R. Wolf, Elena V. Kiseleva, Elena V. Grigor’eva, Viktori Y. Voinova, Maria A. Lagarkova, Ekaterina A. Pomerantseva, Elizaveta V. Musatova, Alexander V. Smirnov, Anna V. Smirnova, Diana S. Stoklitskaya, Tatiana I. Arefieva, Daria A. Larina, Tatiana V. Nikitina, Inna E. Pristyazhnyuk

المصدر: Cells, Vol 12, Iss 23, p 2702 (2023)

مصطلحات موضوعية: Cohen syndrome, VPS13B, COH1, iPSCs, Golgi apparatus, ultrastructure, Cytology, QH573-671

Relation: https://www.mdpi.com/2073-4409/12/23/2702; https://doaj.org/toc/2073-4409; https://doaj.org/article/46fae80a53d840f5ae947d70a2822115

الاتاحة: https://doi.org/10.3390/cells12232702
https://doaj.org/article/46fae80a53d840f5ae947d70a2822115

المؤلفون: Jiaoe Gong, Lily Zhang, Yanwei Long, Bo Xiao, Hongyu Long

المصدر: Molecular Genetics & Genomic Medicine, Vol 10, Iss 12, Pp n/a-n/a (2022)

مصطلحات موضوعية: Chinese, Cohen syndrome, compound heterozygous mutation, VPS13B gene, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2324-9269

URL الوصول: https://doaj.org/article/fe9385b127c94af9b4a64a2438f1206a

المؤلفون: Rakusiewicz Klaudia, Kanigowska Krystyna, Hautz Wojciech, Wicher Dorota, Młynek Marlena, Wyszyńska Marta, Rogowska Anna, Jędrzejczak-Młodziejewska Joanna, Danowska Małgorzata, Czeszyk Agnieszka

المصدر: Open Medicine, Vol 16, Iss 1, Pp 156-160 (2021)

مصطلحات موضوعية: cohen syndrome, macular edema, pale optic disc, facial dysmorphism, cgh test, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2391-5463

URL الوصول: https://doaj.org/article/6067c8c03bda4cab8994a7a3dc12931d

المؤلفون: Sara Momtazmanesh, Elham Rayzan, Sepideh Shahkarami, Meino Rohlfs, Christoph Klein, Nima Rezaei

المصدر: BMC Medical Genetics, Vol 21, Iss 1, Pp 1-6 (2020)

مصطلحات موضوعية: Cohen syndrome, Neutropenia, Frameshift mutation, Vesicular transport proteins, VPS13B protein, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s12881-020-01075-1; https://doaj.org/toc/1471-2350

URL الوصول: https://doaj.org/article/2ac1c58069254cbf8a4995ca13ea5bd2

المؤلفون: You-Kyung Lee, Soo-Kyeong Lee, Suin Choi, Yang Hoon Huh, Ji-Hye Kwak, Yong-Seok Lee, Deok-Jin Jang, Jae-Hyung Lee, Kyungmin Lee, Bong-Kiun Kaang, Chae-Seok Lim, Jin-A Lee

المصدر: Molecular Brain, Vol 13, Iss 1, Pp 1-4 (2020)

مصطلحات موضوعية: Cohen syndrome, Autophagy, VPS13B, iPSC, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13041-020-00611-7; https://doaj.org/toc/1756-6606

URL الوصول: https://doaj.org/article/824d909088ed44a9ac6c7f9b7ac6ee98

المؤلفون: González-Gómez, Andrea Milena, Laguado-Vera, Diana Josefina, Mora-Bautista, Victor Manuel, Contreras-García, Gustavo Adolfo

المصدر: CES Medicina; Vol. 36 Núm. 3 (2022): CES Medicina; 115-124 ; 2215-9177 ; 0120-8705

مصطلحات موضوعية: Cohen syndrome, VPS13B protein – human, microcephaly, phenotype, molecular analysis, gene, Síndrome de Cohen, Proteína VSPB13B (COH1), microcefalia, fenotipo, análisis molecular, gen

وصف الملف: application/pdf

Relation: https://revistas.ces.edu.co/index.php/medicina/article/view/6805/3729; https://revistas.ces.edu.co/index.php/medicina/article/view/6805

الاتاحة: https://revistas.ces.edu.co/index.php/medicina/article/view/6805

المؤلفون: Zorn, Malte, Kühnisch, Jirko, Bachmann, Sebastian, Seifert, Wenke

مصطلحات موضوعية: Cohen Syndrome, VPS13B Missense Variants, Golgi Complex, Neurodevelopmental Disorder, Pathomechanism, ddc:610

وصف الملف: application/pdf

Relation: https://refubium.fu-berlin.de/handle/fub188/44258; http://dx.doi.org/10.17169/refubium-43969

الاتاحة: https://refubium.fu-berlin.de/handle/fub188/44258
https://doi.org/10.17169/refubium-43969
https://doi.org/10.1038/s41598-022-13717-w

المؤلفون: Shu-ying Cai, Pei Li, Shu-xiang Hu, Hui-qiang Cai, Wen-jie Li, Gui-lan Peng

المصدر: Journal of Neurorestoratology, Vol 10, Iss 2, Pp 100003-100003 (2022)

مصطلحات موضوعية: cohen syndrome, vps13b, phenotype, mutation, Neurology. Diseases of the nervous system, RC346-429

Relation: https://www.sciopen.com/article/10.1016/j.jnrt.2022.100003; https://doaj.org/toc/2324-2426; https://doaj.org/article/9e37f878b0034cde9bd90428f1991b48

الاتاحة: https://doi.org/10.1016/j.jnrt.2022.100003
https://doaj.org/article/9e37f878b0034cde9bd90428f1991b48

المؤلفون: Chiaki Kitamura, Kaori Kuraishi, Tatsuya Nishijo, 倉石 佳織, 北村 千章, 西條 竜也

المصدر: 日本遺伝看護学会誌 / Journal of Japanese Society of Genetic Nursing. 2022, 21:10

المؤلفون: Sha Zhao, Zhenqing Luo, Zhenghui Xiao, Liping Li, Rui Zhao, Yongjia Yang, Yan Zhong

المصدر: BMC Medical Genetics, Vol 20, Iss 1, Pp 1-5 (2019)

مصطلحات موضوعية: Cohen syndrome, Hyperlinear palm, VPS13B gene, Mutation, Chinese, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s12881-019-0920-x; https://doaj.org/toc/1471-2350

URL الوصول: https://doaj.org/article/850b897199484412ae41ba8cb226297e

المؤلفون: A. S. Olshanskaya, A. V. Dyuzhakova, N. A. Shnayder, D. V. Dmitrenko

المصدر: Русский журнал детской неврологии, Vol 14, Iss 2, Pp 35-41 (2019)

مصطلحات موضوعية: cohen syndrome, infantile epileptic encephalopathy, neuro-oculocutaneous syndromes, differential diagnosis, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://rjdn.abvpress.ru/jour/article/view/296; https://doaj.org/toc/2073-8803; https://doaj.org/toc/2412-9178

URL الوصول: https://doaj.org/article/4b4924793d614a87b66c6ad292b2e476