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Molecular Genetics & Genomic Medicine|June 10, 2021
Novel compound heterozygous STN1 variants are associated with Coats Plus syndromeTanvi Acharya, Helen V Firth, Shilpa Dugar, et al.
Molecular Genetics & Genomic Medicine|June 11, 2021
CD40LG mutations in Vietnamese patients with X-linked hyper-IgM syndrome; catastrophic anti-phospholipid syndrome as a new complicationAnh Nguyen Lien Phan, Thuy Thi Thanh Pham, Xinh Thi Phan, et al.
Molecular Genetics & Genomic Medicine|January 11, 2021
Gain-of-function mutation Met136Val in SCN8A may not be a common cause of trigeminal neuralgiaRaymond F Sekula, Kathleen Deeley, Hayley Denwood, et al.
Molecular Genetics & Genomic Medicine|January 12, 2021
Isobutyryl-CoA dehydrogenase deficiency associated with autism in a girl without an alternative genetic diagnosis by trio whole exome sequencing: A case reportMaria Eleftheriadou, Evita Medici-van den Herik, Kyra Stuurman, et al.
Molecular Genetics & Genomic Medicine|May 27, 2021
A De Novo case of autosomal dominant mitochondrial membrane protein-associated neurodegenerationStuart Fraser, Mary Koenig, Laura Farach, et al.
Molecular Genetics & Genomic Medicine|April 12, 2022
Analysis of TNFSF13B polymorphisms and BAFF expression in rheumatoid arthritis and primary Sjögren's syndrome patientsEnrique Santillán-López, José Francisco Muñoz-Valle, Edith Oregon-Romero, et al.
Molecular Genetics & Genomic Medicine|September 22, 2016
Genetics and genomic medicine in the PhilippinesCarmencita D Padilla, Eva Maria Cutiongco-de la Paz
Molecular Genetics & Genomic Medicine|September 22, 2016
The prevalence and distribution of the amyloidogenic transthyretin (TTR) V122I allele in AfricaDaniel R Jacobson, Alice A Alexander, Clement Tagoe, et al.
Molecular Genetics & Genomic Medicine|May 27, 2017
Structural modeling of a novel SLC38A8 mutation that causes foveal hypoplasiaMarcus A Toral, Gabriel Velez, Katherine Boudreault, et al.
Molecular Genetics & Genomic Medicine|May 27, 2017
A mutation creating an upstream initiation codon in the SOX9 5' UTR causes acampomelic campomelic dysplasiaAnna E von Bohlen, Johann Böhm, Ramona Pop, et al.
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