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Case Reports in Genetics|May 31, 2022
Rubinstein-Taybi Syndrome in a Filipino Infant with a Novel CREBBP Gene Pathogenic VariantRhea Camille R Yumul, Mary Anne D Chiong
Case Reports in Genetics|December 30, 2020
Six Novel ATM Gene Variants in Sri Lankan Patients with Ataxia TelangiectasiaD Hettiarachchi, Hetalkumar Panchal, B A P S Pathirana, et al.
Case Reports in Genetics|March 22, 2021
Genomic Characterization of Radiation-Induced Intracranial Undifferentiated Pleomorphic SarcomaChristopher S Hong, Edwin Partovi, James Clune, et al.
Case Reports in Genetics|December 24, 2021
A Chinese Patient with Spastic Paraplegia Type 4 with a De Novo Mutation in the SPAST GeneLi Xu, Zijuan Peng, Chunhui Zhou, et al.
Case Reports in Genetics|October 24, 2022
A Neonatal Patient Diagnosed with a COL4A1 Mutation Presenting with Hemorrhagic Infarction and Severe JaundiceAkihiro Kirimura, Hajime Yasuhara, Soshi Hachisuka, et al.
Case Reports in Genetics|February 21, 2022
Farber Disease Mimicking Juvenile Idiopathic Arthritis: The First Reported Case in Qatar and Review of the LiteratureAmal Al-Naimi, Haneen Toma, Sara G Hamad, et al.
Case Reports in Genetics|April 5, 2022
Mechanism of Disease: Recessive ADAMTSL4 Mutations and Craniosynostosis with Ectopia LentisJonas Gustafson, Maria Bjork, Conny M A van Ravenswaaij-Arts, et al.
Case Reports in Genetics|April 18, 2022
A Novel Pathogenic Variant in the RDH5 Gene in a Patient with Fundus Albipunctatus and Severe Macular AtrophyHyelin You, David Sierpina
Case Reports in Genetics|October 2, 2018
Jumping Translocations of 1q in Myelodysplastic Syndrome and Acute Myeloid Leukemia: Report of Three Cases and Review of LiteratureT Couture, K Amato, A DiAdamo, et al.
Case Reports in Genetics|April 24, 2018
Whole Exome Sequencing and Molecular Modeling of a Missense Variant in TNFAIP3 That Segregates with Disease in a Family with Chronic Urticaria and AngioedemaAntoneicka L Harris, Patrick R Blackburn, John E Richter, et al.
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