Showing results (1271-1280 of 2,521) with videos related to

Sort By:
Pageof 253
Molecular Genetics & Genomic Medicine|July 29, 2016
A view on clinical genetics and genomics in Spain: of challenges and opportunitiesTeresa Pàmpols, Feliciano J Ramos, Pablo Lapunzina, et al.
Molecular Genetics & Genomic Medicine|July 29, 2016
A novel approach for next-generation sequencing of circulating tumor cellsStephanie S Yee, David B Lieberman, Tatiana Blanchard, et al.
Molecular Genetics & Genomic Medicine|July 29, 2016
Computational assessment of feature combinations for pathogenic variant predictionEva König, Johannes Rainer, Francisco S Domingues
Molecular Genetics & Genomic Medicine|July 29, 2016
The effect of parental age on the presence of de novo mutations - Lessons from neurofibromatosis type ITom Dubov, Hagit Toledano-Alhadef, Felix Bokstein, et al.
Molecular Genetics & Genomic Medicine|February 12, 2025
Psychological Distress and Quality of Life in Families With a Germline CDKN2A Pathogenic VariantA M Onnekink, D C F Klatte, J E van Hooft, et al.
Molecular Genetics & Genomic Medicine|December 31, 2024
Delineation of the Genetic Architecture and Clinical Polymorphism of 3q29 Duplication Syndrome: A Review of the Literature and a Report of Two Novel Patients With Single-Gene BDH1 DuplicationsA A Kashevarova, M E Lopatkina, O Yu Vasilyeva, et al.
Molecular Genetics & Genomic Medicine|December 2, 2024
Genotype-Phenotype Spectrum of 52 Mexican Patients With Fabry Disease: A Novel GLA Variant With Atypical PhenotypeTamara N Kimball, Pamela Rivero-García, Eduardo R Argaiz, et al.
Molecular Genetics & Genomic Medicine|November 27, 2024
Pathogenicity of the LDLR c.97C>T (p.Gln33Ter) Mutation in Familial HypercholesterolemiaKaihan Wang, Tingting Hu, Mengmeng Tai, et al.
Molecular Genetics & Genomic Medicine|November 15, 2024
Reclassification of Two MLH1 Variants of Uncertain Significance Utilizing Clinical and Functional DataJane Hübertz Frederiksen, Ulf Birkedal, Sarah Bachmann, et al.
Molecular Genetics & Genomic Medicine|February 20, 2025
Unmasking a Recessive Allele by a Rare Interstitial Deletion at 10q26.13q26.2: Prenatal Diagnosis of MMP21 -Related Disorder and Further Refine INSYN2A Involvement in the Postnatal Cognitive PhenotypeJiasun Su, Shujie Zhang, Wei Li, et al.
Pageof 253