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Journal Articles
Six Novel ATM Gene Variants in Sri Lankan Patients with Ataxia Telangiectasia
By: Hettiarachchi, D.; Pathirana, B. A. P. S.; Mittal, Balraj…[et al.]. Case Reports in Genetics. No. 2020 (2020), pp.1-7, 7 p.
Journal Articles
A Specific Diplotype H1jH2 of the MAPT Gene Could Be Responsible for Parkinson’s Disease with Dementia
By: Razine, Rachid; Bouslam, Naima; Mittal, Balraj…[et al.]. Case Reports in Genetics. No. 2020 (2020), pp.1-5, 5 p.
Journal Articles
Genetic Testing Distinguishes Multiple Chondroid Chordomas with Neuraxial Bone Metastases from Multicentric Tumors
By: Shin, Masahiro; Aburatani, Hiroyuki; Tanaka, Sakae…[et al.]. Case Reports in Genetics. No. 2020 (2020), pp.1-6, 6 p.
Journal Articles
Hyperkalemic Periodic Paralysis: Case Report with a SCNA4 Gene Mutation and Literature Review
By: Quiroga-Carrillo, Manuela; Correa-Arrieta, Cristian; Mittal, Balraj…[et al.]. Case Reports in Genetics. No. 2020 (2020), pp.1-4, 4 p.
Journal Articles
Acute Intermittent Porphyria in a Man with Dual Enzyme Deficiencies
By: Cerbino, G. N.; Assali, L. Abou; Mittal, Balraj…[et al.]. Case Reports in Genetics. No. 2020 (2020), pp.1-6, 6 p.
Journal Articles
Very-Long-Chain Acyl-Co-Enzyme A Dehydrogenase Deficiency Presenting as Rhabdomyolysis: First Case Report from Sri Lanka
By: Wijayabandara, Maheshi; Gamakaranage, Champika; Mittal, Balraj…[et al.]. Case Reports in Genetics. No. 2020 (2020), pp.1-5, 5 p.
Journal Articles
Hepatocellular Carcinoma in a 24-Year-Old Female with Beckwith–Wiedemann Syndrome: A Case Report and Review of the Literature
By: Ahlers, Carolyn G.; Trinh, Quoc-Huy; Mittal, Balraj…[et al.]. Case Reports in Genetics. No. 2020 (2020), pp.1-4, 4 p.
Journal Articles
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
By: Mitteldorf, Cristina Aparecida Troques da Silveira; Vilela, Rafael Sarlo; Mittal, Balraj…[et al.]. Case Reports in Genetics. No. 2020 (2020), pp.1-7, 7 p.
Journal Articles
A Japanese Patient with Genitopatellar Syndrome Transiently Presenting with Cardiac Intramural Cavity during the Neonatal Period
By: Takahashi, Kiichi; Adachi, Hiroyuki; Mittal, Balraj…[et al.]. Case Reports in Genetics. No. 2020 (2020), pp.1-5, 5 p.
Journal Articles
“Isolated” Amelogenesis Imperfecta Associated with DLX3 Mutation: A Clinical Case
By: Bonnet, Anne-Laure; Sceosole, Kevin; Mittal, Balraj…[et al.]. Case Reports in Genetics. No. 2020 (2020), pp.1-6, 6 p.
Journal Articles
Managing Sleep and Behavioral Problems in a Preschooler with SATB2-Associated Syndrome
By: Kumar, Nihit; Mittal, Balraj; Zarate, Yuri A.. Case Reports in Genetics. No. 2020 (2020), pp.1-4, 4 p.
Journal Articles
Niemann-Pick Disease: An Underdiagnosed Lysosomal Storage Disorder
By: Panigrahi, Inusha; Thapa, Babu R.; Kalra, Jasvinder…[et al.]. Case Reports in Genetics. No. 2019 (2019), pp.1-5, 5 p.
Journal Articles
Ocular Manifestations of the NAA10-Related Syndrome
By: Gupta, Angela S.; Couser, Natario L.; Mittal, Balraj…[et al.]. Case Reports in Genetics. No. 2019 (2019), pp.1-6, 6 p.
Journal Articles
T118M Variant of PMP22 Gene Presents with Painful Peripheral Neuropathy and Varying Charcot-Marie-Tooth Features: A Case Series and Review of the Literature
By: Ho, Kwo Wei David; Jerath, Nivedita U.; Mittal, Balraj. Case Reports in Genetics. No. 2018 (2018), pp.1-7, 7 p.
Journal Articles
Gastrointestinal Malignancy Presenting with a Virchow’s Node in a Patient with Rothmund-Thomson Syndrome
By: Nadeau, Kara; Mittal, Balraj; Brule, Michele. Case Reports in Genetics. No. 2018 (2018), pp.1-3, 3 p.
Journal Articles
Congenital Glaucoma: a Novel Ocular Manifestation of Hajdu-Cheney Syndrome
By: Swan, L.; Mittal, Balraj; Coman, D.…[et al.]. Case Reports in Genetics. No. 2018 (2018), pp.1-4, 4 p.
Journal Articles
The association of a rare variant of -93, -53 promoter gene polymorphisms of lipoprotein lipase gene with obesity and insulin resistance
By: Prakash, Jai; Mittal, Balraj; Srivastava, Apurva…[et al.]. Oman Medical Journal. Vol. 33, no. 5 (Sep. 2018), pp.401-408, 8 p.
Journal Articles
A Rare Case of Severe Congenital RYR1-Associated Myopathy
By: Laforgia, Nicola; Di Mauro, Antonio; Mittal, Balraj…[et al.]. Case Reports in Genetics. No. 2018 (2018), pp.1-7, 7 p.
Journal Articles
A Novel c.91dupG JAG1 Gene Mutation Is Associated with Early Onset and Severe Alagille Syndrome
By: García-Delgado, C.; Vázquez-Martínez, Edgar Ricardo; Morán-Barroso, V. F.…[et al.]. Case Reports in Genetics. No. 2018 (2018), pp.1-3, 3 p.
Journal Articles
Palpitations and Asthenia Associated with Venlafaxine in a CYP2D6 Poor Metabolizer and CYP2C19 Intermediate Metabolizer
By: Garcia, Sofia; Mittal, Balraj; Atwal, Paldeep S.…[et al.]. Case Reports in Genetics. No. 2017 (2017), pp.1-4, 4 p.
Journal Articles
FOXE1 Mutation Screening in a Case with Cleft Lip, Hypothyroidism, and Thyroid Carcinoma: A New Syndrome?
By: Mendieta Zeron, Hugo; Jiménez-Rosales, Angélica; Mittal, Balraj…[et al.]. Case Reports in Genetics. No. 2017 (2017), pp.1-8, 8 p.
Journal Articles
Neurological Manifestations of X-Linked Ichthyosis: Case Report and Review of the Literature
By: Baek, William S.; Aypar, Umut; Mittal, Balraj. Case Reports in Genetics. No. 2017 (2017), pp.1-5, 5 p.
Journal Articles
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
By: Shao, Elichilia; Mwasamwaja, Amos; Hamel, Ben C. J.…[et al.]. Case Reports in Genetics. No. 2017 (2017), pp.1-4, 4 p.
Journal Articles
Familial Case of Pelizaeus-Merzbacher Disorder Detected by Oligoarray Comparative Genomic Hybridization: Genotype-to-Phenotype Diagnosis
By: Najafi, Kimia; Kariminejad, Roxana; Mittal, Balraj…[et al.]. Case Reports in Genetics. No. 2017 (2017), pp.1-4, 4 p.
Journal Articles
Association of FTO rs9939609 SNP with obesity and obesity : associated phenotypes in a north Indian population
By: Prakash, Jai; Mittal, Balraj; Srivastava, Apurva…[et al.]. Oman Medical Journal. Vol. 31, no. 2 (Mar. 2016), pp.99-106, 8 p.
Journal Articles
Evaluation of MC4R (rs17782313, rs17700633), AGRP (rs3412352) and POMC (rs1042571) polymorphisms with obesity in northern India
By: Srivastava, Apurva; Mittal, Balraj; Prakash, Jai…[et al.]. Oman Medical Journal. Vol. 29, no. 2 (2014), pp.114-118, 5 p.