Search details
1.
Next Generation Sequencing and Electromyography Reveal the Involvement of the P2RX6 Gene in Myopathy.
Curr Issues Mol Biol
; 46(2): 1150-1163, 2024 Jan 29.
Article
in English
| MEDLINE | ID: mdl-38392191
2.
Whole Exome Sequencing as a First-Line Molecular Genetic Test in Developmental and Epileptic Encephalopathies.
Int J Mol Sci
; 25(2)2024 Jan 17.
Article
in English
| MEDLINE | ID: mdl-38256219
3.
STXBP6 Gene Mutation: A New Form of SNAREopathy Leads to Developmental Epileptic Encephalopathy.
Int J Mol Sci
; 24(22)2023 Nov 17.
Article
in English
| MEDLINE | ID: mdl-38003627
4.
Specific Learning Disorders: Variation Analysis of 15 Candidate Genes in 9 Multiplex Families.
Medicina (Kaunas)
; 59(8)2023 Aug 21.
Article
in English
| MEDLINE | ID: mdl-37629793
5.
Allelic Variations in the Human Genes TMPRSS2 and CCR5, and the Resistance to Viral Infection by SARS-CoV-2.
Int J Mol Sci
; 23(16)2022 Aug 15.
Article
in English
| MEDLINE | ID: mdl-36012436
6.
PHF21A Related Disorder: Description of a New Case.
Int J Mol Sci
; 23(24)2022 Dec 17.
Article
in English
| MEDLINE | ID: mdl-36555772
7.
Prader-Willi Syndrome with Angelman Syndrome in the Offspring.
Medicina (Kaunas)
; 57(5)2021 May 08.
Article
in English
| MEDLINE | ID: mdl-34066798
8.
Possible implication of undescribed SMN1-SMN2 genotype in chronic EMG-pattern of SMA with transitory acute denervation.
J Musculoskelet Neuronal Interact
; 20(4): 610-613, 2020 12 01.
Article
in English
| MEDLINE | ID: mdl-33265090
9.
A Customized Next-Generation Sequencing-Based Panel to Identify Novel Genetic Variants in Dementing Disorders: A Pilot Study.
Neural Plast
; 2020: 8078103, 2020.
Article
in English
| MEDLINE | ID: mdl-32908482
10.
A de novo mutation of KRT1 in a baby girl causing epidermolytic ichthyosis with impressive epidermolytic palmoplantar keratoderma.
Dermatol Online J
; 26(7)2020 Jul 15.
Article
in English
| MEDLINE | ID: mdl-32898404
11.
Are Mutations in the DHRS9 Gene Causally Linked to Epilepsy? A Case Report.
Medicina (Kaunas)
; 56(8)2020 Aug 01.
Article
in English
| MEDLINE | ID: mdl-32752300
12.
The epilepsy phenotypic spectrum associated with a recurrent CUX2 variant.
Ann Neurol
; 83(5): 926-934, 2018 05.
Article
in English
| MEDLINE | ID: mdl-29630738
13.
Letter to the Editor Regarding the Article "Whole-Exome Sequencing in NF1-Related West's Syndrome Leads to the Identification of KCNC2 as a Novel Candidate Gene for Epilepsy".
Neuropediatrics
; 52(2): 153, 2021 04.
Article
in English
| MEDLINE | ID: mdl-33111300
14.
Expression of Phosphodiesterase 4B cAMP-Specific Gene in Subjects With Cryptorchidism and Down's Syndrome.
J Clin Lab Anal
; 30(3): 196-9, 2016 May.
Article
in English
| MEDLINE | ID: mdl-25546171
15.
Definition of minimal duplicated region encompassing the XIAP and STAG2 genes in the Xq25 microduplication syndrome.
Am J Med Genet A
; 164A(8): 1923-30, 2014 Aug.
Article
in English
| MEDLINE | ID: mdl-24733578
16.
GRIN2A: involvement in movement disorders and intellectual disability without seizures.
Neurol Sci
; 40(11): 2405-2406, 2019 Nov.
Article
in English
| MEDLINE | ID: mdl-31098720
17.
UNC5C: Novel Gene Associated with Psychiatric Disorders Impacts Dysregulation of Axon Guidance Pathways.
Genes (Basel)
; 15(3)2024 Feb 27.
Article
in English
| MEDLINE | ID: mdl-38540364
18.
Intragenic ILRAPL1 deletion in a male patient with intellectual disability, mild dysmorphic signs, deafness, and behavioral problems.
Am J Med Genet A
; 161A(6): 1381-5, 2013 Jun.
Article
in English
| MEDLINE | ID: mdl-23613341
19.
Fibroblast Growth Factor Receptor 2 (FGFR2), a New Gene Involved in the Genesis of Autism Spectrum Disorder.
Neuromolecular Med
; 25(4): 650-656, 2023 Dec.
Article
in English
| MEDLINE | ID: mdl-37733178
20.
Exome sequencing in a child with neurodevelopmental disorder and epilepsy: Variant analysis of the AHNAK2 gene.
Mol Genet Genomic Med
; 10(9): e2012, 2022 09.
Article
in English
| MEDLINE | ID: mdl-35789128