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1.
Bi-Allelic DES Gene Variants Causing Autosomal Recessive Myofibrillar Myopathies Affecting Both Skeletal Muscles and Cardiac Function.
Int J Mol Sci;
23(24)2022 Dec 14.
Artículo
en Inglés
| MEDLINE | ID: mdl-36555543
2.
A novel RAB39B mutation and concurrent de novo NF1 mutation in a boy with neurofibromatosis type 1, intellectual disability, and autism: a case report.
BMC Neurol;
20(1): 327, 2020 Sep 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-32873259
3.
A rare co-occurrence of phosphorylase kinase deficiency (GSD type IXd) and alpha-glycosidase deficiency (GSD Type II) in a 53-year-old man presenting with an atypical glycogen storage disease phenotype.
Acta Myol;
43(1): 21-26, 2024.
Artículo
en Inglés
| MEDLINE | ID: mdl-38586167
4.
Phenotypic Variability of Andersen-Tawil Syndrome Due to Allelic Mutation c.652C>T in the KCNJ2 Gene-A New Family Case Report.
Biomolecules;
14(4)2024 Apr 22.
Artículo
en Inglés
| MEDLINE | ID: mdl-38672523
5.
DAG1 haploinsufficiency is associated with sporadic and familial isolated or pauci-symptomatic hyperCKemia.
Eur J Hum Genet;
32(3): 342-349, 2024 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-38177406
6.
Xp21 contiguous gene deletion syndrome presenting as Duchenne muscular dystrophy and glycerol kinase deficiency associated with intellectual disability: case report and review literature.
Acta Myol;
42(1): 24-30, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-37091526
7.
Spectrum of Genetic Variants in the Dystrophin Gene: A Single Centre Retrospective Analysis of 750 Duchenne and Becker Patients from Southern Italy.
Genes (Basel);
14(1)2023 01 14.
Artículo
en Inglés
| MEDLINE | ID: mdl-36672955
8.
A Novel Homozygous Loss-of-Function Variant in SPRED2 Causes Autosomal Recessive Noonan-like Syndrome.
Genes (Basel);
15(1)2023 12 25.
Artículo
en Inglés
| MEDLINE | ID: mdl-38254922
9.
Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy.
Sci Rep;
12(1): 20815, 2022 12 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-36460718
10.
Linked-Read Whole Genome Sequencing Solves a Double DMD Gene Rearrangement.
Genes (Basel);
12(2)2021 01 21.
Artículo
en Inglés
| MEDLINE | ID: mdl-33494189
11.
Urine concentrating defect as presenting sign of progressive renal failure in Bardet-Biedl syndrome patients.
Clin Kidney J;
14(6): 1545-1551, 2021 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-34084454
12.
Mild Clinical Presentation of Joubert Syndrome in a Male Adult Carrying Biallelic MKS1 Truncating Variants.
Diagnostics (Basel);
11(7)2021 Jul 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-34359301
13.
Out-of-Frame Mutations in ACTN2 Last Exon Cause a Dominant Distal Myopathy With Facial Weakness.
Neurol Genet;
7(5): e619, 2021 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-34386585
14.
Clinical and Genetic Findings in Children with Neurofibromatosis Type 1, Legius Syndrome, and Other Related Neurocutaneous Disorders.
Genes (Basel);
10(8)2019 07 31.
Artículo
en Inglés
| MEDLINE | ID: mdl-31370276
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