Novel biallelic SZT2 mutations in 3 cases of early‐onset epileptic encephalopathy

By  

CLINICAL GENETICS, Vol. 93, Iss. 2, 2018-02 ,pp. : 266-274

John Wiley & Sons Inc

Access to resources Recommend Favorite

Identification of Inherited Retinal Disease-Associated Genetic Variants in 11 Candidate Genes

By Astuti Galuh D. N.   van den Born L. Ingeborgh   Khan M. Imran   Hamel Christian P.   Bocquet Béatrice   Manes Gaël   Quinodoz Mathieu   Ali Manir   Toomes Carmel   McKibbin Martin   El-Asrag Mohammed E.   Haer-Wigman Lonneke   Inglehearn Chris F.   Black Graeme C. M.   Hoyng Carel B.   Cremers Frans P. M.   Roosing Susanne  

Genes, Vol. 9, Iss. 1, 2018-01 ,pp. : 21-21

MDPI

Access to resources Recommend Favorite

A comprehensive approach to identification of pathogenic FANCA variants in Fanconi anemia patients and their families

By  

HUMAN MUTATION, Vol. 39, Iss. 2, 2018-02 ,pp. : 237-254

John Wiley & Sons Inc

Access to resources Recommend Favorite

Identification and In Vivo Functional Characterization of Novel Compound Heterozygous BMP1 Variants in Osteogenesis Imperfecta

By  

HUMAN MUTATION, Vol. 36, Iss. 2, 2015-02 ,pp. : 191-195

John Wiley & Sons Inc

Access to resources Recommend Favorite

Identification of Variants in the 4q35 Gene FAT1 in Patients with a Facioscapulohumeral Dystrophy‐Like Phenotype

By  

HUMAN MUTATION, Vol. 36, Iss. 4, 2015-04 ,pp. : 443-453

John Wiley & Sons Inc

Access to resources Recommend Favorite