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Case Reports in Genetics|December 20, 2021
Delayed Diagnosis of McCune-Albright SyndromeBereket Fantahun, Seblewongel DestaCase Reports in Genetics|November 15, 2021
Overlapping Phenotypes in Osteopetrosis and Pycnodysostosis in Asian-IndiansParminder Kaur, Inusha Panigrahi, Harleen Kaur, et al.Case Reports in Genetics|November 15, 2021
Whole-Exome Sequencing Identifies a Novel POLG Frameshift Variant in an Adult Patient Presenting with Progressive External Ophthalmoplegia and Mitochondrial DNA DepletionJustin Kurtz, Joseph Americo Fernandes, Mahesh Mansukhani, et al.Case Reports in Genetics|September 6, 2019
Novel SUFU Frameshift Variant Leading to Meningioma in Three Generations in a Family with Gorlin SyndromeGustav Askaner, Ulrikke Lei, Birgitte Bertelsen, et al.Case Reports in Genetics|June 12, 2015
Deletion of 7q33-q35 in a Patient with Intellectual Disability and Dysmorphic Features: Further Characterization of 7q Interstitial Deletion SyndromeKristen Dilzell, Diana Darcy, John Sum, et al.Case Reports in Genetics|July 3, 2015
Unexplained False Negative Results in Noninvasive Prenatal Testing: Two Cases Involving Trisomies 13 and 18R Hochstenbach, G C M L Page-Christiaens, A C C van Oppen, et al.Case Reports in Genetics|November 24, 2022
A Case of Autosomal Recessive Intellectual Developmental Disorder Type 5 Presenting with EpilepsyMahpara Hasan, Gayatra Mainali, Ermal Aliu, et al.Case Reports in Genetics|September 19, 2019
Identifying a Novel DPYD Polymorphism Associated with Severe Toxicity to 5-FU Chemotherapy in a Saudi PatientNedal Bukhari, Faisal Azam, Mohammed Alfawaz, et al.Case Reports in Genetics|January 2, 2026
Correction to "Intellectual Disability and Blended Phenotypes: Insights from a Centre in North India"Case Reports in Genetics|September 26, 2014
Preaxial polydactyly of the foot: variable expression of trisomy 13 in a case from central AfricaSébastien Mbuyi-Musanzayi, Aimé Lumaka, Bienvenu Yogolelo Asani, et al.Pageof 34