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Biology
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Case Reports in Genetics
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Hindawi Publishing Corporation Cairo, Egypt :
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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
Cytogenomic Abnormalities in 19 Cases of Salivary Gland Tumors of Parotid Gland Origin
By: Zerjav, Marie; Peng, Gang; Paracchini, Silvia…[et al.]. Case Reports in Genetics. No. 2020 (2020), pp.1-6, 6 p.
Journal Articles
Multimodal Imaging Characteristics of ADRP in a Family with p.Thr58Arg Substituted RHO Mutation
By: Ruppert, Misty; Pyun, John; Suri, Mohnish…[et al.]. Case Reports in Genetics. No. 2020 (2020), pp.1-9, 9 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
Corrigendum to “Eye Manifestations of Shprintzen–Goldberg Craniosynostosis Syndrome: A Case Report and Systematic Review”
By: Choi, Jamie H.; Li, Rachel; Couser, Natario L.…[et al.]. Case Reports in Genetics. No. 2020 (2020), pp.1-1, 1 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
A Novel Mutation of VPS33B Gene Associated with Incomplete Arthrogryposis-Renal Dysfunction-Cholestasis Phenotype
By: Kambouris, Marios; Gerou, Spyridon; Suri, Mohnish…[et al.]. Case Reports in Genetics. No. 2020 (2020), pp.1-8, 8 p.
Journal Articles
An Adolescent with a Rare De Novo Distal Trisomy 6p and Distal Monosomy 6q Chromosomal Combination
By: Peterman, Leia A.; Vance, Gail H.; Paracchini, Silvia…[et al.]. Case Reports in Genetics. No. 2020 (2020), pp.1-8, 8 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
A Novel EMD Mutation Identified by Whole-Exome Sequencing in Twins with Emery–Dreifuss Muscular Dystrophy
By: Luo, Rong; He, Tao; Suri, Mohnish…[et al.]. Case Reports in Genetics. No. 2020 (2020), pp.1-7, 7 p.
Journal Articles
Eye Manifestations of Shprintzen–Goldberg Craniosynostosis Syndrome: A Case Report and Systematic Review
By: Choi, Jamie H.; Li, Rachel; Gannaway, Rachel…[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
Chromosome 20p Partial De Novo Duplication Identified in a Female Paediatric Patient with Characteristic Facial Dysmorphism and Behavioural Anomalies
By: Khattak, Shahzaib; Jan, Meryam; Yapijakis, C.…[et al.]. Case Reports in Genetics. No. 2020 (2020), pp.1-6, 6 p.
Journal Articles
Late Onset Ornithine Transcarbamylase Deficiency Triggered by an Acute Increase in Protein Intake: A Review of 10 Cases Reported in the Literature
By: Barkovich, E.; Suri, Mohnish; Gropman, A. L.. Case Reports in Genetics. No. 2020 (2020), pp.1-5, 5 p.
Journal Articles
Characterization of a Pathogenic Variant in the ABCD1 Gene Through Protein Molecular Modeling
By: Helmi, Haytham; Hines, Stephanie L.; Ban, Yoshiyuki…[et al.]. Case Reports in Genetics. No. 2020 (2020), pp.1-7, 7 p.
Journal Articles
Candidate Genes Associated with Delayed Neuropsychomotor Development and Seizures in a Patient with Ring Chromosome 20
By: Galera, Marcial Francis; Kibriya, M. G.; Riegel, Mariluce…[et al.]. Case Reports in Genetics. No. 2020 (2020), pp.1-6, 6 p.
Journal Articles
Behçet Disease-Like Symptoms with a Novel COPA Mutation
By: Cardinal, J.; Yapijakis, C.; Coman, D.…[et al.]. Case Reports in Genetics. No. 2020 (2020), pp.1-4, 4 p.
Journal Articles
Chromosome 16p13.3 Contiguous Gene Deletion Syndrome including the SLX4, DNASE1, TRAP1, and CREBBP Genes Presenting as a Relatively Mild Rubinstein–Taybi Syndrome Phenotype: A Case Report of a Saudi Boy
By: al-Qattan, Mohammad M.; Jarman, Abdulaziz; Yapijakis, C.…[et al.]. Case Reports in Genetics. No. 2020 (2020), pp.1-5, 5 p.