Case Reports in Genetics: 2021, vol: 2021, issue:
- 1)- Bereket Fantahun, Seblewongel Desta. Delayed Diagnosis of McCune-Albright Syndrome. Case reports in genetics. 2021, 2021: 2999349
Cited : 0Read More - 2)- Signe Faurschou, Dorte L Lildballe, Lisa L Maroun, Morten Helvind, Maria Rasmussen. Total Anomalous Pulmonary Venous Connection in Mother and Son with a Central 22q11.2 Microdeletion. Case reports in genetics. 2021, 2021: 5539855Cited : 0Read More
- 3)- Christopher S Hong, Edwin Partovi, James Clune, Anita Huttner, Henry S Park, Sacit Bulent Omay. Genomic Characterization of Radiation-Induced Intracranial Undifferentiated Pleomorphic Sarcoma. Case reports in genetics. 2021, 2021: 5586072Cited : 0Read More
- 4)- Li Xu, Zijuan Peng, Chunhui Zhou, Jiqing Wang, Hunjin Luo, Qin Lu, Zhengjun Bao. A Chinese Patient with Spastic Paraplegia Type 4 with a Mutation in the SPAST Gene. Case reports in genetics. 2021, 2021: 6636855Cited : 0Read More
- 5)- Parminder Kaur, Inusha Panigrahi, Harleen Kaur, Thakurvir Singh, Chakshu Chaudhry. Overlapping Phenotypes in Osteopetrosis and Pycnodysostosis in Asian-Indians. Case reports in genetics. 2021, 2021: 7133508Cited : 2Read More
- 6)- Hao Trong Nguyen, Nguyen Nhat Pham, Hoang Anh Vu, Tu Nguyen Anh Tran. The First Vietnamese Patient of LEOPARD Syndrome due to a Mutation: A Case Report and Review of the Literature. Case reports in genetics. 2021, 2021: 8197435Cited : 1Read More
- 7)- Jinjie Li, Yue Zhang, Yanjun Diao, Rui Li, Liqing Jiang, Lei Zhou, Jiayun Liu, Weixun Duan, Liu Yang. A De Novo sSMC (22) Characterized by High-Resolution Chromosome Microarray Analysis in a Chinese Boy with Cat-Eye Syndrome. Case reports in genetics. 2021, 2021: 8824184Cited : 0Read More
- 8)- Jamie H Choi, Rachel Li, Rachel Gannaway, Tahnee N Causey, Anna Harrison, Natario L Couser. Corrigendum #2 to "Eye Manifestations of Shprintzen-Goldberg Craniosynostosis Syndrome: A Case Report and Systematic Review". Case reports in genetics. 2021, 2021: 9897523Cited : 0Read More
- 9)- Justin Kurtz, Joseph Americo Fernandes, Mahesh Mansukhani, William C Copeland, Ali B Naini. Whole-Exome Sequencing Identifies a Novel POLG Frameshift Variant in an Adult Patient Presenting with Progressive External Ophthalmoplegia and Mitochondrial DNA Depletion. Case reports in genetics. 2021, 2021: 9969071Cited : 1Read More
