Detalles de la búsqueda
1.
A novel pathogenic ATP6V1B2 variant: Widening the genotypic spectrum of the epileptic neurodevelopmental phenotype.
Am J Med Genet A;
188(12): 3563-3566, 2022 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-36135319
2.
Phenotype-driven variant filtration strategy in exome sequencing toward a high diagnostic yield and identification of 85 novel variants in 400 patients with rare Mendelian disorders.
Am J Med Genet A;
185(8): 2561-2571, 2021 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-34008892
3.
Identification of a Novel IQCE Large Deletion through Copy Number Variant Analysis from Whole-Exome Sequencing Data of a Patient with Postaxial Polydactyly Type A7.
Mol Syndromol;
14(3): 225-230, 2023 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-37323200
4.
Hepatomegaly and fatty liver disease secondary to central hypothyroidism in combination with macrosomia as initial presentation of IGSF1 deficiency syndrome.
Hormones (Athens);
22(3): 515-520, 2023 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-37493943
5.
Germline CNV Detection through Whole-Exome Sequencing (WES) Data Analysis Enhances Resolution of Rare Genetic Diseases.
Genes (Basel);
14(7)2023 07 21.
Artículo
en Inglés
| MEDLINE | ID: mdl-37510394
6.
Retrospective analysis of persistent HyperCKemia with or without muscle weakness in a case series from Greece highlights vast DMD variant heterogeneity.
Expert Rev Mol Diagn;
23(11): 999-1010, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-37754746
7.
Combined exome analysis and exome depth assessment achieve a high diagnostic yield in an epilepsy case series, revealing significant genomic heterogeneity and novel mechanisms.
Expert Rev Mol Diagn;
23(1): 85-103, 2023 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-36714946
Resultados
1 -
7
de 7
1
Próxima >
>>