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1.
Next-generation sequencing in Charcot-Marie-Tooth: a proposal for improvement of ACMG guidelines for variant evaluation.
J Med Genet
; 2024 Jun 13.
Article
in English
| MEDLINE | ID: mdl-38871447
2.
The neurological core features of the infantile-onset multisystem neurologic, endocrine, and pancreatic disease: A novel nonsense mutation in an Italian family.
J Peripher Nerv Syst
; 2024 Jun 14.
Article
in English
| MEDLINE | ID: mdl-38874107
3.
Novel Germline PHD2 Variant in a Metastatic Pheochromocytoma and Chronic Myeloid Leukemia, but in the Absence of Polycythemia.
Medicina (Kaunas)
; 58(8)2022 Aug 17.
Article
in English
| MEDLINE | ID: mdl-36013579
4.
Chiari 1 malformation and exome sequencing in 51 trios: the emerging role of rare missense variants in chromatin-remodeling genes.
Hum Genet
; 140(4): 625-647, 2021 Apr.
Article
in English
| MEDLINE | ID: mdl-33337535
5.
Early Onset Inherited Peripheral Neuropathies: The Experience of a Specialized Referral Center for Genetic Diagnosis Achievement.
Pediatr Neurol
; 154: 4-8, 2024 May.
Article
in English
| MEDLINE | ID: mdl-38428336
6.
Novel Sources of Biodiversity and Biomolecules from Bacteria Isolated from a High Middle Ages Soil Sample in Palermo (Sicily, Italy).
Microbiol Spectr
; 11(3): e0437422, 2023 06 15.
Article
in English
| MEDLINE | ID: mdl-37071008
7.
Non-Invasive Detection of a De Novo Frameshift Variant of STAG2 in a Female Fetus: Escape Genes Influence the Manifestation of X-Linked Diseases in Females.
J Clin Med
; 11(14)2022 Jul 19.
Article
in English
| MEDLINE | ID: mdl-35887945
8.
A Novel Splicing Variant of COL2A1 in a Fetus with Achondrogenesis Type II: Interpretation of Pathogenicity of In-Frame Deletions.
Genes (Basel)
; 12(9)2021 09 10.
Article
in English
| MEDLINE | ID: mdl-34573377
9.
Variable clinical expression of Stickler Syndrome: A case report of a novel COL11A1 mutation.
Mol Genet Genomic Med
; 8(9): e1353, 2020 09.
Article
in English
| MEDLINE | ID: mdl-32558342
10.
Immunological Features of Neuroblastoma Amplified Sequence Deficiency: Report of the First Case Identified Through Newborn Screening for Primary Immunodeficiency and Review of the Literature.
Front Immunol
; 10: 1955, 2019.
Article
in English
| MEDLINE | ID: mdl-31507590
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