Showing results (281-290 of 344) with videos related to

Sort By:
Pageof 35
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.
Case Reports in Genetics|December 15, 2015
The Use of High-Density SNP Array to Map Homozygosity in Consanguineous Families to Efficiently Identify Candidate Genes: Application to Woodhouse-Sakati SyndromeMolly B Sheridan, Elizabeth Wohler, Denise A S Batista, et al.
Case Reports in Genetics|December 8, 2017
SOX5-Null Heterozygous Mutation in a Family with Adult-Onset Hyperkinesia and Behavioral AbnormalitiesMichael Zech, Katharina Poustka, Sylvia Boesch, et al.
Case Reports in Genetics|September 9, 2017
Neurological Manifestations of X-Linked Ichthyosis: Case Report and Review of the LiteratureWilliam S Baek, Umut Aypar
Case Reports in Genetics|February 2, 2018
A Novel Mutation in ACTG2 Gene in Mother with Chronic Intestinal Pseudoobstruction and Fetus with Megacystis Microcolon Intestinal Hypoperistalsis SyndromeJulie R Whittington, Aaron T Poole, Eryn H Dutta, et al.
Case Reports in Genetics|November 11, 2017
Palpitations and Asthenia Associated with Venlafaxine in a CYP2D6 Poor Metabolizer and CYP2C19 Intermediate MetabolizerSofia Garcia, Michael Schuh, Anvir Cheema, et al.
Pageof 35