Search details
1.
Developmental epileptic encephalopathy in DLG4-related synaptopathy.
Epilepsia
; 65(4): 1029-1045, 2024 Apr.
Article
in English
| MEDLINE | ID: mdl-38135915
2.
Mosaic IL6ST variant inducing constitutive GP130 cytokine receptor signaling as a cause of neonatal onset immunodeficiency with autoinflammation and dysmorphy.
Hum Mol Genet
; 30(3-4): 226-233, 2021 04 26.
Article
in English
| MEDLINE | ID: mdl-33517393
3.
Allogenic Adipose-Derived Stem Cells in Diabetic Foot Ulcer Treatment: Clinical Effectiveness, Safety, Survival in the Wound Site, and Proteomic Impact.
Int J Mol Sci
; 24(2)2023 Jan 12.
Article
in English
| MEDLINE | ID: mdl-36674989
4.
Postzygotic mosaicism of a novel PTPN11 mutation in monozygotic twins discordant for metachondromatosis.
Am J Med Genet A
; 188(5): 1482-1487, 2022 05.
Article
in English
| MEDLINE | ID: mdl-35112464
5.
NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with Leigh-like Encephalomyopathy.
Am J Hum Genet
; 102(3): 460-467, 2018 03 01.
Article
in English
| MEDLINE | ID: mdl-29429571
6.
A recurrent de novo variant supports KCNC2 involvement in the pathogenesis of developmental and epileptic encephalopathy.
Am J Med Genet A
; 185(11): 3384-3389, 2021 11.
Article
in English
| MEDLINE | ID: mdl-34448338
7.
Homozygous mutation in the Neurofascin gene affecting the glial isoform of Neurofascin causes severe neurodevelopment disorder with hypotonia, amimia and areflexia.
Hum Mol Genet
; 27(21): 3669-3674, 2018 11 01.
Article
in English
| MEDLINE | ID: mdl-30124836
8.
The remarkable phenotypic variability of the p.Arg269HiS variant in the TRPV4 gene.
Muscle Nerve
; 59(1): 129-133, 2019 01.
Article
in English
| MEDLINE | ID: mdl-30230566
9.
Dominant ELOVL1 mutation causes neurological disorder with ichthyotic keratoderma, spasticity, hypomyelination and dysmorphic features.
J Med Genet
; 55(6): 408-414, 2018 06.
Article
in English
| MEDLINE | ID: mdl-29496980
10.
Novel de novo mutation affecting two adjacent aminoacids in the EED gene in a patient with Weaver syndrome.
J Hum Genet
; 63(4): 517-520, 2018 Apr.
Article
in English
| MEDLINE | ID: mdl-29410511
11.
Evidence for HNRNPH1 being another gene for Bain type syndromic mental retardation.
Clin Genet
; 94(3-4): 381-385, 2018 10.
Article
in English
| MEDLINE | ID: mdl-29938792
12.
Co-occurrence of Jalili syndrome and muscular overgrowth.
Am J Med Genet A
; 173(8): 2280-2283, 2017 Aug.
Article
in English
| MEDLINE | ID: mdl-28586144
13.
Epigenetic Findings in Twins with Esophageal Atresia.
Genes (Basel)
; 14(9)2023 09 20.
Article
in English
| MEDLINE | ID: mdl-37761962
14.
Novel Loss of Function Variants in CENPF Including a Large Intragenic Deletion in Patients with Strømme Syndrome.
Genes (Basel)
; 14(11)2023 Oct 24.
Article
in English
| MEDLINE | ID: mdl-38002928
15.
Severe Infantile Axonal Neuropathy with Respiratory Failure Caused by Novel Mutation in X-Linked LAS1L Gene.
Genes (Basel)
; 13(5)2022 04 21.
Article
in English
| MEDLINE | ID: mdl-35627110
16.
A cautionary note on using binary calls for analysis of DNA methylation.
Bioinformatics
; 31(9): 1519-20, 2015 May 01.
Article
in English
| MEDLINE | ID: mdl-25682069
17.
Occurrence of Esophageal Atresia With Tracheoesophageal Fistula in Siblings From Three-Generation Family Affected by Variable Expressivity MYCN Mutation: A Case Report.
Front Pediatr
; 9: 783553, 2021.
Article
in English
| MEDLINE | ID: mdl-34926353
18.
Intracardiac tumor as a rare manifestation of genetic syndromes-presentation of a family with Gorlin syndrome and a literature review.
J Appl Genet
; 61(4): 559-565, 2020 Dec.
Article
in English
| MEDLINE | ID: mdl-32964316
19.
Leukoencephalopathy with Calcifications and Cysts-The First Polish Patient with Labrune Syndrome.
Brain Sci
; 10(11)2020 Nov 18.
Article
in English
| MEDLINE | ID: mdl-33218075
20.
Rapid Whole-Exome Sequencing as a Diagnostic Tool in a Neonatal/Pediatric Intensive Care Unit.
J Clin Med
; 9(7)2020 Jul 13.
Article
in English
| MEDLINE | ID: mdl-32668698