Showing results (121-130 of 335) with videos related to

Sort By:
Pageof 34
Case Reports in Genetics|January 16, 2016
Mitchell-Riley Syndrome: A Novel Mutation in RFX6 GeneMarta Zegre Amorim, Jayne A L Houghton, Sara Carmo, et al.
Case Reports in Genetics|December 8, 2015
Hereditary Neuropathy with Liability to Pressure Palsies Masked by Previous Gunshots and TuberculosisMartin Gencik, Josef Finsterer
Case Reports in Genetics|February 5, 2016
Early Morphokinetic Monitoring of Embryos after Intracytoplasmic Sperm Injection with Fresh Ejaculate Sperm in Nonmosaic Klinefelter Syndrome: A Different PresentationAli Sami Gurbuz, Ahmet Salvarci, Necati Ozcimen, et al.
Case Reports in Genetics|September 30, 2015
Different Cardiac Anomalies in Mother and Son with 4q-SyndromeMarcello Marcì, Angela Guarina, M Cristina Castiglione, et al.
Case Reports in Genetics|December 16, 2014
Partial Gene Deletions of PMP22 Causing Hereditary Neuropathy with Liability to Pressure PalsiesSun-Mi Cho, Bo Young Hong, Yoonjung Kim, et al.
Case Reports in Genetics|September 10, 2020
Novel Mutations in Pilomatrixoma, CTNNB1 p.s45F, and FGFR2 p.s252L: A Report of Three Cases Diagnosed by Fine-Needle Aspiration Biopsy, with Review of the LiteratureCristina Aparecida Troques da Silveira Mitteldorf, Rafael Sarlo Vilela, Melissa Lissae Fugimori, et al.
Case Reports in Genetics|February 13, 2020
Characterization of a Pathogenic Variant in the ABCD1 Gene Through Protein Molecular ModelingJohn E Richter, Charitha Vadlamudi, Sarah K Macklin, et al.
Case Reports in Genetics|August 22, 2015
Mild Phenotype in a Patient with a De Novo 6.3 Mb Distal Deletion at 10q26.2q26.3George A Tanteles, Elpiniki Nikolaou, Yiolanda Christou, et al.
Case Reports in Genetics|December 12, 2018
Multifactorial Origin of Exertional Rhabdomyolysis, Recurrent Hematuria, and Episodic Pain in a Service Member with Sickle Cell TraitNyamkhishig Sambuughin, Mingqiang Ren, John F Capacchione, et al.
Case Reports in Genetics|January 16, 2018
Schinzel-Giedion Syndrome with Congenital Megacalycosis in a Turkish Patient: Report of SETBP1 Mutation and Literature Review of the Clinical FeaturesOzgul Bulut, Zeynep Ince, Umut Altunoglu, et al.
Pageof 34