1. "Isolated" Amelogenesis Imperfecta Associated with DLX3 Mutation: A Clinical Case. (4th August 2020) Authors: Bonnet, Anne-Laure; Sceosole, Kevin; Vanderzwalm, Arabelle; Silve, Caroline; Collignon, Anne-Margaux; Gaucher, Celine Other Names: Mittal Balraj Academic Editor. Journal: Case reports in gastrointestinal medicine Issue: Volume 2020(2020) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A Case of Autosomal Recessive Intellectual Developmental Disorder Type 5 Presenting with Epilepsy. (14th November 2022) Authors: Hasan, Mahpara; Mainali, Gayatra; Aliu, Ermal; Paudel, Sita Other Names: Mittal Balraj Academic Editor. Journal: Case reports in genetics Issue: Volume 2022(2022) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. A Case of Congenital Hypotonia and Developmental Delay in an Individual with a De Novo Variant Outside of the Canonical HX-Motif of ATN1. (10th January 2023) Authors: Makarova, Elizaveta; Legro, Nicole R.; Aliu, Ermal Other Names: Mittal Balraj Academic Editor. Journal: Case reports in genetics Issue: Volume 2023(2023) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. A Chinese Patient with Spastic Paraplegia Type 4 with a De Novo Mutation in the SPAST Gene. (14th December 2021) Authors: Xu, Li; Peng, Zijuan; Zhou, Chunhui; Wang, Jiqing; Luo, Hunjin; Lu, Qin; Bao, Zhengjun Other Names: Mittal Balraj Academic Editor. Journal: Case reports in genetics Issue: Volume 2021(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. A De Novo sSMC (22) Characterized by High-Resolution Chromosome Microarray Analysis in a Chinese Boy with Cat-Eye Syndrome. (28th February 2021) Authors: Li, Jinjie; Zhang, Yue; Diao, Yanjun; Li, Rui; Jiang, Liqing; Zhou, Lei; Liu, Jiayun; Duan, Weixun; Yang, Liu Other Names: Mittal Balraj Academic Editor. Journal: Case reports in genetics Issue: Volume 2021(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. A Japanese Patient with Genitopatellar Syndrome Transiently Presenting with Cardiac Intramural Cavity during the Neonatal Period. (29th August 2020) Authors: Takahashi, Kiichi; Adachi, Hiroyuki; Toyono, Manatomo; Ito, Masato; Kato, Akie; Noguchi, Atsuko; Takahashi, Tsutomu Other Names: Mittal Balraj Academic Editor. Journal: Case reports in genetics Issue: Volume 2020(2020) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. A Neonatal Patient Diagnosed with a COL4A1 Mutation Presenting with Hemorrhagic Infarction and Severe Jaundice. (14th October 2022) Authors: Kirimura, Akihiro; Yasuhara, Hajime; Hachisuka, Soshi; Takagi, Kumiko; Ebisu, Reiko; Ohgitani, Ayako; Minowa, Hideki Other Names: Mittal Balraj Academic Editor. Journal: Case reports in genetics Issue: Volume 2022(2022) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. A Novel c.91dupG JAG1 Gene Mutation Is Associated with Early Onset and Severe Alagille Syndrome. (25th June 2018) Authors: Reyes-de la Rosa, Alejandra del Pilar; Varela-Fascinetto, Gustavo; García-Delgado, Constanza; Vázquez-Martínez, Edgar Ricardo; Valencia-Mayoral, Pedro; Cerbón, Marco; Morán-Barroso, Verónica Fabiola Other Names: Mittal Balraj Academic Editor. Journal: Case reports in genetics Issue: Volume 2018(2018) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. A Novel Pathogenic Variant in the RDH5 Gene in a Patient with Fundus Albipunctatus and Severe Macular Atrophy. (6th April 2022) Authors: You, Hyelin; Sierpina, David Other Names: Mittal Balraj Academic Editor. Journal: Case reports in genetics Issue: Volume 2022(2022) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. A Rare Case of Severe Congenital RYR1-Associated Myopathy. (1st August 2018) Authors: Laforgia, Nicola; Capozza, Manuela; De Cosmo, Lucrezia; Di Mauro, Antonio; Baldassarre, Maria Elisabetta; Mercadante, Francesca; Torella, Anna Laura; Nigro, Vincenzo; Resta, Nicoletta Other Names: Mittal Balraj Academic Editor. Journal: Case reports in genetics Issue: Volume 2018(2018) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗