Mutation analysis of the GPD1 gene in the proband and her parents. The patient was a homozygote and her parents were heterozygous for the mutation. (DOCX 853 kb
Timeline of this case. of a de novo ANK1 mutation associated to hereditary spherocytosis: a case rep...
Glycogen storage disease (GSD) Ib is a rare genetic metabolic disorder caused by gene mutation in th...
Table S1. The expected score scale of the mutation from each software. (DOCX 13 kb
Transient infantile hypertriglyceridemia is a rare autosomal recessive disorder characterized by hyp...
Figure S1. DNA sequence analysis of the exon 9 of GNAS gene. Figure S1 DNA sequence analysis of the ...
Summary of three GA II patients with compound heterozygous mutations including p.S307C. (DOCX 20 kb
Figure S1. Sequencing data for SLC35A2 mutation. [A]- Integrative Genomics Viewer image of next gene...
Glycogen storage disease (GSD) Ib is a rare genetic metabolic disorder caused by gene mutation in th...
Table S1. Genes related to thyroid disorder. 50 genes related to thyroid development, function, seru...
Figure S1. Sanger sequencing confirmed a heterozygous mutation in KMT2D. The de novo heterozygous mu...
Table S2. The ataxia gene panel. It is a list of hereditary ataxia-related genes analysed in the pro...
Avrami G, Drasdo M, Neuber S, Jorch N, Hamelmann E. A novel homozygous mutation in the Glycerol-3-Ph...
Table S1. Primers used in long-range PCR of PKD1 homologous regions. (DOC 37Â kb
This article reports the characterization of two siblings diagnosed with late-onset multiple Acyl-Co...
The putative genetic mutations in WES analysis. According to an assumed inheritance of autosomal rec...
Timeline of this case. of a de novo ANK1 mutation associated to hereditary spherocytosis: a case rep...
Glycogen storage disease (GSD) Ib is a rare genetic metabolic disorder caused by gene mutation in th...
Table S1. The expected score scale of the mutation from each software. (DOCX 13 kb
Transient infantile hypertriglyceridemia is a rare autosomal recessive disorder characterized by hyp...
Figure S1. DNA sequence analysis of the exon 9 of GNAS gene. Figure S1 DNA sequence analysis of the ...
Summary of three GA II patients with compound heterozygous mutations including p.S307C. (DOCX 20 kb
Figure S1. Sequencing data for SLC35A2 mutation. [A]- Integrative Genomics Viewer image of next gene...
Glycogen storage disease (GSD) Ib is a rare genetic metabolic disorder caused by gene mutation in th...
Table S1. Genes related to thyroid disorder. 50 genes related to thyroid development, function, seru...
Figure S1. Sanger sequencing confirmed a heterozygous mutation in KMT2D. The de novo heterozygous mu...
Table S2. The ataxia gene panel. It is a list of hereditary ataxia-related genes analysed in the pro...
Avrami G, Drasdo M, Neuber S, Jorch N, Hamelmann E. A novel homozygous mutation in the Glycerol-3-Ph...
Table S1. Primers used in long-range PCR of PKD1 homologous regions. (DOC 37Â kb
This article reports the characterization of two siblings diagnosed with late-onset multiple Acyl-Co...
The putative genetic mutations in WES analysis. According to an assumed inheritance of autosomal rec...
Timeline of this case. of a de novo ANK1 mutation associated to hereditary spherocytosis: a case rep...
Glycogen storage disease (GSD) Ib is a rare genetic metabolic disorder caused by gene mutation in th...
Table S1. The expected score scale of the mutation from each software. (DOCX 13 kb