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Case Reports in Genetics|March 21, 2014
A Case of False Negative NIPT for Down Syndrome-Lessons LearnedMeagan Smith, Kimberly M Lewis, Alexandrea Holmes, et al.Case Reports in Genetics|April 6, 2017
Goldenhar Syndrome with Dextrocardia and Right Pulmonary Hypoplasia: An Unusual AssociationNagendra Chaudhary, Sandeep Shrestha, Hemant Kumar HalwaiCase Reports in Genetics|April 11, 2017
Three Novel Mutations in the NPHS1 Gene in Vietnamese Patients with Congenital Nephrotic SyndromeThi Kim Lien Nguyen, Van Dem Pham, Thu Huong Nguyen, et al.Case Reports in Genetics|March 21, 2019
Werner's Syndrome: Understanding the Phenotype of Premature Aging-First Case Described in ColombiaA Rincón, L Mora, F Suarez-Obando, et al.Case Reports in Genetics|May 7, 2014
A Rare, Recurrent, De Novo 14q32.2q32.31 Microdeletion of 1.1 Mb in a 20-Year-Old Female Patient with a Maternal UPD(14)-Like Phenotype and Intellectual DisabilityAlmira Zada, Farmaditya E P Mundhofir, Rolph Pfundt, et al.Case Reports in Genetics|March 30, 2019
Identification and Mapping of a 2,009-bp DNA Deletion in SERPING1 of a Hereditary Angioedema PatientWai-Yu Wong, Helen Wong, Elaine Au, et al.Case Reports in Genetics|February 28, 2015
Novel mutation in a patient with cholesterol ester storage diseasePatrick Lin, Sheela Raikar, Jennifer Jimenez, et al.Case Reports in Genetics|September 23, 2021
The First Vietnamese Patient of LEOPARD Syndrome due to a PTPN11 Mutation: A Case Report and Review of the LiteratureHao Trong Nguyen, Nguyen Nhat Pham, Hoang Anh Vu, et al.Case Reports in Genetics|August 30, 2018
A Rare Case of Severe Congenital RYR1-Associated MyopathyNicola Laforgia, Manuela Capozza, Lucrezia De Cosmo, et al.Case Reports in Genetics|August 30, 2018
Biallelic Mismatch Repair Deficiency in an Adolescent FemaleAmber Hildreth, Mark A Valasek, Irene Thung, et al.Pageof 35