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Case Reports in Genetics|May 20, 2016
Whole Exome Sequencing Leading to the Diagnosis of Dysferlinopathy with a Novel Missense Mutation (c.959G>C)Abhisek Swaika, Nicole J Boczek, Neha Sood, et al.Case Reports in Genetics|May 31, 2016
Multiple Coronary Artery Microfistulas in a Girl with Kleefstra SyndromeEuthymia Vargiami, Athina Ververi, Hamda Al-Mutawa, et al.Case Reports in Genetics|October 11, 2014
Alsin related disorders: literature review and case study with novel mutationsFilipa Flor-de-Lima, Mafalda Sampaio, Nahid Nahavandi, et al.Case Reports in Genetics|July 5, 2016
Adult Prader-Willi Syndrome: An Update on ManagementLuk Ho-MingCase Reports in Genetics|December 16, 2014
A new case of 13q12.2q13.1 microdeletion syndrome contributes to phenotype delineationGiorgia Mandrile, Eleonora Di Gregorio, Alessandro Calcia, et al.Case Reports in Genetics|December 2, 2014
A Case of Acute Myeloid Leukemia with a Previously Unreported Translocation (14; 15) (q32; q13)Mohamad Khawandanah, Bradley Gehrs, Shibo Li, et al.Case Reports in Genetics|May 11, 2017
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 TanzaniaElichilia R Shao, Lucas F Kiyegi, Amos O Mwasamwaja, et al.Case Reports in Genetics|August 28, 2018
LAMA2 Congenital Muscle Dystrophy: A Novel Pathogenic Mutation in Bulgarian PatientIvanka Dimova, Ivo KremenskyCase Reports in Genetics|June 2, 2018
Ocular Manifestations of a Novel Proximal 19p13.3 MicrodeletionL Swan, D ComanCase Reports in Genetics|October 18, 2012
Early intervention combined with targeted treatment promotes cognitive and behavioral improvements in young children with fragile x syndromeTri Indah Winarni, Andrea Schneider, Mariya Borodyanskara, et al.Pageof 34