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Case Reports in Genetics|April 13, 2016
Early Infantile Epileptic Encephalopathy in an STXBP1 Patient with Lactic Acidemia and Normal Mitochondrial Respiratory Chain FunctionDong Li, Elizabeth Bhoj, Elizabeth McCormick, et al.Case Reports in Genetics|May 30, 2019
Niemann-Pick Disease: An Underdiagnosed Lysosomal Storage DisorderInusha Panigrahi, Manoj Dhanorkar, Renu Suthar, et al.Case Reports in Genetics|March 14, 2022
The Missing LNK: Evolution from Cytosis to Chronic Myelomonocytic Leukemia in a Patient with Multiple Sclerosis and Germline SH2B3 MutationKrishna Gundabolu, Bhavana J Dave, Carmelita J Alvares, et al.Case Reports in Genetics|March 14, 2022
The Efficacy of Anti-Tumor Necrosis Factor Therapy in Cryopyrin-Associated Periodic Syndromes: A Report of Two CasesFatemeh Tahghighi, Mahdieh Vahedi, Nima Parvaneh, et al.Case Reports in Genetics|August 15, 2018
Novel TRAPPC11 Mutations in a Chinese Pedigree of Limb Girdle Muscular DystrophyXike Wang, Yue Wu, Yuxia Cui, et al.Case Reports in Genetics|September 10, 2016
Ring Chromosome 4 in a Child with Multiple Congenital Abnormalities: A Case Report and Review of the LiteratureC S Paththinige, N D Sirisena, U G I U Kariyawasam, et al.Case Reports in Genetics|May 11, 2017
Pathogenic Variant in ACTB, p.Arg183Trp, Causes Juvenile-Onset Dystonia, Hearing Loss, and Developmental Delay without Midline MalformationErin Conboy, Filippo Vairo, Darrel Waggoner, et al.Case Reports in Genetics|April 4, 2018
Prenatal Identification and Molecular Characterization of Two Simultaneous De Novo Interstitial Duplications of Chromosomal Regions 7p22.1p21.1 and 15q24.1Sabrina C Burn, Kali Swift, Maria PalmquistCase Reports in Genetics|May 4, 2017
Prenatal Diagnosis of a 2.5 Mb De Novo 17q24.1q24.2 Deletion Encompassing KPNA2 and PSMD12 Genes in a Fetus with Craniofacial Dysmorphism, Equinovarus Feet, and SyndactylyMarie-Emmanuelle Naud, Lucie Tosca, Jelena Martinovic, et al.Case Reports in Genetics|April 24, 2019
Pallister-Hall Syndrome Presenting in AdolescenceAria Mahtabfar, Niall Buckley, Susan Murphy, et al.Pageof 34