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Case Reports in Genetics|March 15, 2014
Warfarin Dosing in a Patient with CYP2C9(∗)3(∗)3 and VKORC1-1639 AA GenotypesMark Johnson, Craig Richard, Renee Bogdan, et al.Case Reports in Genetics|March 21, 2014
An interstitial deletion at 10q26.2q26.3Ivan Y Iourov, Svetlana G Vorsanova, Oxana S Kurinnaia, et al.Case Reports in Genetics|January 31, 2017
Familial Case of Pelizaeus-Merzbacher Disorder Detected by Oligoarray Comparative Genomic Hybridization: Genotype-to-Phenotype DiagnosisKimia Najafi, Roxana Kariminejad, Kaveh Hosseini, et al.Case Reports in Genetics|March 19, 2014
Mandibuloacral Dysplasia Caused by LMNA Mutations and Uniparental DisomyShaochun Bai, Anthony Lozada, Marilyn C Jones, et al.Case Reports in Genetics|November 10, 2018
Epileptic Encephalopathy and Cerebellar Atrophy Resulting from Compound Heterozygous CACNA2D2 VariantsKameryn M Butler, Philip J Holt, Sarah S Milla, et al.Case Reports in Genetics|November 13, 2018
A Rare Case of Heterozygous Gain of Function Thyrotropin Receptor Mutation Associated with Development of Thyroid Follicular CarcinomaJames Blackburn, Dinesh Giri, Barbara Ciolka, et al.Case Reports in Genetics|October 24, 2012
Vici syndrome: a rare autosomal recessive syndrome with brain anomalies, cardiomyopathy, and severe intellectual disabilityR Curtis Rogers, Bridgette Aufmuth, Stephanie MonessonCase Reports in Genetics|August 19, 2024
Two Pediatric Cases of Primary Ciliary Dyskinesia Caused by Loss-of-Function Variants in Oral-Facial-Digital Syndrome Gene, OFD1Yifei Xu, Yuki Tsurinaga, Tsubasa Matsumoto, et al.Case Reports in Genetics|July 5, 2021
Total Anomalous Pulmonary Venous Connection in Mother and Son with a Central 22q11.2 MicrodeletionSigne Faurschou, Dorte L Lildballe, Lisa L Maroun, et al.Case Reports in Genetics|December 21, 2020
A Specific Diplotype H1j/H2 of the MAPT Gene Could Be Responsible for Parkinson's Disease with DementiaImane Smaili, Imane Hajjaj, Rachid Razine, et al.Pageof 34