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1.
Novel TONSL variants cause SPONASTRIME dysplasia and associate with spontaneous chromosome breaks, defective cell proliferation and apoptosis.
Hum Mol Genet
; 29(18): 3122-3131, 2020 11 04.
Article
in English
| MEDLINE | ID: mdl-32959051
2.
A novel complex genomic rearrangement affecting the KCNJ2 regulatory region causes a variant of Cooks syndrome.
Hum Genet
; 141(2): 217-227, 2022 Feb.
Article
in English
| MEDLINE | ID: mdl-34821995
3.
Pro-Fibrotic Phenotype in a Patient with Segmental Stiff Skin Syndrome via TGF-ß Signaling Overactivation.
Int J Mol Sci
; 21(14)2020 Jul 20.
Article
in English
| MEDLINE | ID: mdl-32698527
4.
TAB2 c.1398dup variant leads to haploinsufficiency and impairs extracellular matrix homeostasis.
Hum Mutat
; 40(10): 1886-1898, 2019 10.
Article
in English
| MEDLINE | ID: mdl-31250519
5.
A simultaneous next-generation sequencing approach to the diagnosis of couple infertility.
Minerva Endocrinol (Torino)
; 47(1): 4-10, 2022 Mar.
Article
in English
| MEDLINE | ID: mdl-33988008
6.
Non-Syndromic Autosomal Dominant Hearing Loss: The First Italian Family Carrying a Mutation in the NCOA3 Gene.
Genes (Basel)
; 12(7)2021 07 06.
Article
in English
| MEDLINE | ID: mdl-34356059
7.
Complications related to in vitro reproductive techniques support the implementation of natural procreative technologies.
Acta Biomed
; 91(13-S): e2020018, 2020 11 09.
Article
in English
| MEDLINE | ID: mdl-33170179
8.
Insights into the molecular pathogenesis of cardiospondylocarpofacial syndrome: MAP3K7 c.737-7A > G variant alters the TGFß-mediated α-SMA cytoskeleton assembly and autophagy.
Biochim Biophys Acta Mol Basis Dis
; 1866(6): 165742, 2020 06 01.
Article
in English
| MEDLINE | ID: mdl-32105826
9.
Prenatal genetic diagnosis: Fetal therapy as a possible solution to a positive test.
Acta Biomed
; 91(13-S): e2020021, 2020 11 09.
Article
in English
| MEDLINE | ID: mdl-33170180
10.
Generation and characterization of a human iPSC line from an ALS patient carrying the Q66K-MATR3 mutation.
Stem Cell Res
; 33: 146-150, 2018 12.
Article
in English
| MEDLINE | ID: mdl-30366341
11.
Design and synthesis of 2-oxindole based multi-targeted inhibitors of PDK1/Akt signaling pathway for the treatment of glioblastoma multiforme.
Eur J Med Chem
; 105: 274-88, 2015 Nov 13.
Article
in English
| MEDLINE | ID: mdl-26498573
12.
Establishment and genetic characterization of ANGM-CSS, a novel, immortal cell line derived from a human glioblastoma multiforme.
Int J Oncol
; 44(3): 717-24, 2014 Mar.
Article
in English
| MEDLINE | ID: mdl-24366606
13.
Calcium-sensing receptor (CASR) mutations in hypercalcemic states: studies from a single endocrine clinic over three years.
J Clin Endocrinol Metab
; 95(4): 1819-29, 2010 Apr.
Article
in English
| MEDLINE | ID: mdl-20164288
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