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1.
Genome mapping of a LYST mutation in corn snakes indicates that vertebrate chromatophore vesicles are lysosome-related organelles.
Proc Natl Acad Sci U S A
; 117(42): 26307-26317, 2020 10 20.
Article
in English
| MEDLINE | ID: mdl-33020272
2.
A mutation in the 3'-UTR of the HDAC6 gene abolishing the post-transcriptional regulation mediated by hsa-miR-433 is linked to a new form of dominant X-linked chondrodysplasia.
Hum Mol Genet
; 19(10): 2015-27, 2010 May 15.
Article
in English
| MEDLINE | ID: mdl-20181727
3.
A 580 kb microdeletion in 17q21.32 associated with mental retardation, microcephaly, cleft palate, and cardiac malformation.
Eur J Med Genet
; 51(1): 74-80, 2008.
Article
in English
| MEDLINE | ID: mdl-18024240
4.
Spectrum of CREBBP gene dosage anomalies in Rubinstein-Taybi syndrome patients.
Eur J Hum Genet
; 15(8): 843-7, 2007 Aug.
Article
in English
| MEDLINE | ID: mdl-17473832
5.
Testing and improving experimental parameters for the use of low molecular weight targets in array-CGH experiments.
Hum Mutat
; 27(11): 1143-50, 2006 Nov.
Article
in English
| MEDLINE | ID: mdl-16952148
6.
MSRV envelope protein is a potent, endogenous and pathogenic agonist of human toll-like receptor 4: Relevance of GNbAC1 in multiple sclerosis treatment.
J Neuroimmunol
; 291: 29-38, 2016 Feb 15.
Article
in English
| MEDLINE | ID: mdl-26857492
7.
Human Endogenous Retrovirus and Neuroinflammation in Chronic Inflammatory Demyelinating Polyradiculoneuropathy.
EBioMedicine
; 6: 190-198, 2016 Apr.
Article
in English
| MEDLINE | ID: mdl-27211560
8.
Characterization of a de novo balanced translocation t(9;18)(p23;q12.2) in a patient with oculoauriculovertebral spectrum.
Eur J Med Genet
; 53(2): 104-7, 2010.
Article
in English
| MEDLINE | ID: mdl-20132917
9.
2.3 Mb terminal deletion in 12p13.33 associated with oculoauriculovertebral spectrum and evaluation of WNT5B as a candidate gene.
Eur J Med Genet
; 52(6): 446-9, 2009.
Article
in English
| MEDLINE | ID: mdl-19733267
10.
Detection of an intragenic deletion expands the spectrum of CTSC mutations in Papillon-Lefèvre syndrome.
J Invest Dermatol
; 128(2): 322-5, 2008 Feb.
Article
in English
| MEDLINE | ID: mdl-17943190
11.
COL4A1 mutation in Axenfeld-Rieger anomaly with leukoencephalopathy and stroke.
Ann Neurol
; 62(2): 177-84, 2007 Aug.
Article
in English
| MEDLINE | ID: mdl-17696175
12.
Proteolipidic vectors for gene transfer to the lung.
Biochem Biophys Res Commun
; 290(5): 1489-98, 2002 Feb 08.
Article
in English
| MEDLINE | ID: mdl-11820790
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