Detalles de la búsqueda
1.
Charcot-Marie-Tooth Disease with Myelin Protein Zero Mutation Presenting as Painful, Predominant Small-Fiber Neuropathy.
Int J Mol Sci
; 25(3)2024 Jan 29.
Artículo
en Inglés
| MEDLINE | ID: mdl-38338934
2.
Pure Parkinsonism as Possible Phenotype Expansion of THAP1-Related Disorders.
Mov Disord
; 2024 Feb 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-38358056
3.
Phenotypic Description of A Patient with ODLURO Syndrome and Functional Characterization of the Pathogenetic Role of A Synonymous Variant c.186G>A in KMT2E Gene.
Genes (Basel)
; 15(4)2024 03 29.
Artículo
en Inglés
| MEDLINE | ID: mdl-38674365
4.
Mosaic derivative chromosomes at chorionic villi (CV) sampling are expression of genomic instability and precursors of cryptic disease-causing rearrangements: report of further four cases.
Mol Cytogenet
; 17(1): 8, 2024 Apr 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-38589928
5.
A case series of non-small cell lung cancer patients with EGFR or HER2 exon 20 insertion in Li Fraumeni syndrome.
Tumori
; : 3008916241255485, 2024 May 23.
Artículo
en Inglés
| MEDLINE | ID: mdl-38779904
6.
Genetic Basis of Breast and Ovarian Cancer: Approaches and Lessons Learnt from Three Decades of Inherited Predisposition Testing.
Genes (Basel)
; 15(2)2024 02 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-38397209
7.
Modifiers of Autosomal Dominant Polycystic Kidney Disease Severity: The Role of PKD1 Hypomorphic Alleles.
Genes (Basel)
; 14(6)2023 06 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-37372410
8.
Reassessment of the NF1 variants of unknown significance found during the 20-year activity of a genetics diagnostic laboratory.
Eur J Med Genet
; 66(11): 104847, 2023 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-37751797
9.
Success and Pitfalls of Genetic Testing in Undiagnosed Diseases: Whole Exome Sequencing and Beyond.
Genes (Basel)
; 14(6)2023 06 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-37372421
10.
Gene Panel Analysis in a Large Cohort of Patients With Autosomal Dominant Polycystic Kidney Disease Allows the Identification of 80 Potentially Causative Novel Variants and the Characterization of a Complex Genetic Architecture in a Subset of Families.
Front Genet
; 11: 464, 2020.
Artículo
en Inglés
| MEDLINE | ID: mdl-32457805
11.
Salvage total thyroidectomy for amiodarone-induced thyrotoxicosis in a SARS-CoV-2 positive patient: results of the viral genome research on the pathology sample of this destructive thyroiditis.
Endocrine
; 76(2): 495-498, 2022 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-35278173
12.
Epilepsy with eyelid myoclonias and Sotos syndrome features in a patient with compound heterozygous missense variants in APC2 gene.
Seizure
; 83: 169-171, 2020 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-33161245
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