31. Novel EPG5 Mutation Associated with Vici Syndrome Gene. (5th July 2022) Authors: Mahjoubi, Frouzandeh; Shabani, Samira; Khakbazpour, Sogand; Khaligh Akhlaghi, Aylar 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) ↗
32. Novel Mutations in Pilomatrixoma, CTNNB1 p.s45F, and FGFR2 p.s252L: A Report of Three Cases Diagnosed by Fine-Needle Aspiration Biopsy, with Review of the Literature. (29th August 2020) Authors: Mitteldorf, Cristina Aparecida Troques da Silveira; Vilela, Rafael Sarlo; Fugimori, Melissa Lissae; Godoy, Carla Daniele de; Coudry, Renata de Almeida 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) ↗
33. Novel Phenotype in Unbalanced 7;9 Translocation with Critical Incidental Finding. (17th May 2022) Authors: Fischer, Julie; Rohena, Luis 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) ↗
34. Ocular Manifestations of the NAA10-Related Syndrome. (8th April 2019) Authors: Gupta, Angela S.; Saif, Hind Al; Lent, Jennifer M.; Couser, Natario L. Other Names: Mittal Balraj Academic Editor. Journal: Case reports in genetics Issue: Volume 2019(2019) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
35. Overlapping Phenotypes in Osteopetrosis and Pycnodysostosis in Asian-Indians. (3rd November 2021) Authors: Kaur, Parminder; Panigrahi, Inusha; Kaur, Harleen; Singh, Thakurvir; Chaudhry, Chakshu 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) ↗
36. Palpitations and Asthenia Associated with Venlafaxine in a CYP2D6 Poor Metabolizer and CYP2C19 Intermediate Metabolizer. (16th October 2017) Authors: Garcia, Sofia; Schuh, Michael; Cheema, Anvir; Atwal, Herjot; Atwal, Paldeep S. Other Names: Mittal Balraj Academic Editor. Journal: Case reports in genetics Issue: Volume 2017(2017) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
37. Prenatal Lethal Diagnosis of 8p23.1 Duplication Syndrome Associated with Omphalocele and Encephalocele. (25th February 2023) Authors: Hicks, Melissa A.; Ebrahim, Salah; Gonik, Bernard 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) ↗
38. Respiratory Failure due to Severe Obesity and Kyphoscoliosis in a 24-Year-Old Male with Molecularly Confirmed Prader-Willi Syndrome in Tertiary Hospital in Northern Tanzania. (9th April 2017) Authors: Shao, Elichilia R.; Kiyegi, Lucas F.; Mwasamwaja, Amos O.; Kilonzo, Kajiru; Hamel, Ben C. J. Other Names: Mittal Balraj Academic Editor. Journal: Case reports in genetics Issue: Volume 2017(2017) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
39. Six Novel ATM Gene Variants in Sri Lankan Patients with Ataxia Telangiectasia. (9th December 2020) Authors: Hettiarachchi, D.; Panchal, Hetalkumar; Pathirana, B. A. P. S.; Rathnayaka, P. D.; Padeniya, A.; Lai, P. S.; Dissanayake, V. H. W. 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) ↗
40. The Benefits of Early versus Late Therapeutic Intervention in Fabry Disease. (30th December 2022) Authors: Furlano, Mónica; Ars, Elisabet; Matamala, Anna; Brossa, Vicens; Martí, Joan; Prado-Venegas, Maria del; Crespi, Jaume; Roe, Esther; Torra, Roser 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) ↗