Zobrazeno 1 - 10
of 534
pro vyhledávání: '"Mowat–Wilson syndrome"'
Publikováno v:
Annals of Child Neurology. Jan2022, Vol. 30 Issue 1, p31-34. 4p.
Autor:
Yalda Zhoulideh, Jamil Joolideh
Publikováno v:
Egyptian Journal of Medical Human Genetics, Vol 25, Iss 1, Pp 1-10 (2024)
Abstract Mowat-Wilson syndrome can be mentioned as one of the most severe and, at the same time, rare genetic abnormalities. The inheritance pattern of this disorder is an autosomal dominant pattern. In this disease, the ZEB2 gene becomes abnormal. T
Externí odkaz:
https://doaj.org/article/d20f1a85dc874d0e81a7c10571777b83
Autor:
Jiang, Qian1, Zhang, Xiaoxiao2, Ma, Yinan3, Li, Qi4, Zheng, Chunhua5, Yan, Yuchun6, Zhang, Zhen4, Xiao, Ping7, Su, Lin8, Cheng, Wei9,10, Pan, Hong3, Li, Long4
Publikováno v:
Clinical Case Reports. Jan2017, Vol. 5 Issue 1, p9-13. 5p.
Publikováno v:
Pharmacogenomics and Personalized Medicine, Vol Volume 16, Pp 777-783 (2023)
Xiao Han,1 Qianjuan Zhang,2 Chengcheng Wang,3 Bingjuan Han4 1Department of Pediatrics, Jining First People’s Hospital, Jining, Shandong, 272011, People’s Republic of China; 2Department of Children’s Medical Rehabilitation Center, Jinan Maternit
Externí odkaz:
https://doaj.org/article/959f111f1aa3448b82927c6012dc470d
Autor:
Kale, Trupti1, Philip, Melissa1
Publikováno v:
Case Reports in Genetics. 12/8/2016, p1-5. 5p.
Autor:
Bapaye, Amol1, Wagholikar, Gajanan2, Jog, Sameer3, Kothurkar, Aditi4, Purandare, Shefali5, Dubale, Nachiket1, Pujari, Rajendra1, Mahadik, Mahesh1, Vyas, Viral1, Bapaye, Jay6
Publikováno v:
Digestive Endoscopy. Sep2016, Vol. 28 Issue 6, p680-684. 5p.
Autor:
Spunton, Marianna1, Garavelli, Livia2, Mainardi, Paola Cerutti3, Emmig, Uta4, Finale, Enrico1 enrico.finale@gmail.com, Guala, Andrea1
Publikováno v:
Pediatric Reports. 2018, Vol. 10 Issue 1, p14-16. 3p.
Autor:
Haiming Yuan1,2, Lina Zhang3, Mengfan Chen1, Junping Zhu1, Zhe Meng3, Liyang Liang3 liangliyang020@sina.com
Publikováno v:
Molecular Cytogenetics (17558166). 12/23/2015, Vol. 8, p1-7. 7p.
Publikováno v:
Heliyon, Vol 9, Iss 12, Pp e22989- (2023)
Microcephaly-capillary malformation syndrome (MIC-CAP) and Mowat-Wilson syndrome (MWS) are both rare hereditary diseases with several overlapping symptoms. We here report a Chinese patient simultaneously affected by MIC-CAP and MWS, presenting with m
Externí odkaz:
https://doaj.org/article/043518ad4ed7499baf36d9c437ba122b
Publikováno v:
Nutrición Hospitalaria. abr2015, Vol. 31 Issue 4, p1882-1884. 3p.