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1.
An unusual diagnosis of alpha-mannosidosis with ocular anomalies: Behind the scenes of a hidden copy number variation.
Am J Med Genet A
; 194(5): e63532, 2024 May.
Article
in English
| MEDLINE | ID: mdl-38192009
2.
Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature.
Genet Med
; 25(1): 49-62, 2023 01.
Article
in English
| MEDLINE | ID: mdl-36322151
3.
The PRSS3P2 and TRY7 deletion copy number variant modifies risk for chronic pancreatitis.
Pancreatology
; 23(1): 48-56, 2023 Jan.
Article
in English
| MEDLINE | ID: mdl-36517351
4.
A new case of Kaufman Oculocerebrofacial syndrome caused by two splicing variants in UBE3B and review of the literature.
Clin Genet
; 103(3): 377-379, 2023 03.
Article
in English
| MEDLINE | ID: mdl-36444497
5.
A Founder Effect of c.257 + 2T > C Mutation in NCF2 Gene Underlies Severe Chronic Granulomatous Disease in Eleven Patients.
J Clin Immunol
; 36(6): 547-54, 2016 08.
Article
in English
| MEDLINE | ID: mdl-27220316
6.
A genetic overview of Atlantic coastal populations from Europe and North-West Africa based on a 17 X-STR panel.
Forensic Sci Int Genet
; 27: 167-171, 2017 03.
Article
in English
| MEDLINE | ID: mdl-27931869
7.
A founder mutation underlies a severe form of phosphoglutamase 3 (PGM3) deficiency in Tunisian patients.
Mol Immunol
; 90: 57-63, 2017 10.
Article
in English
| MEDLINE | ID: mdl-28704707
8.
Analysis of the R1b-DF27 haplogroup shows that a large fraction of Iberian Y-chromosome lineages originated recently in situ.
Sci Rep
; 7(1): 7341, 2017 08 04.
Article
in English
| MEDLINE | ID: mdl-28779148
9.
New clues to the evolutionary history of the main European paternal lineage M269: dissection of the Y-SNP S116 in Atlantic Europe and Iberia.
Eur J Hum Genet
; 24(3): 437-41, 2016 Mar.
Article
in English
| MEDLINE | ID: mdl-26081640
10.
Evidence for the high importance of co-morbid factors in HFE C282Y/H63D patients cared by phlebotomies: results from an observational prospective study.
PLoS One
; 8(12): e81128, 2013.
Article
in English
| MEDLINE | ID: mdl-24339903
11.
A missense mutation in the alpha-actinin 1 gene (ACTN1) is the cause of autosomal dominant macrothrombocytopenia in a large French family.
PLoS One
; 8(9): e74728, 2013.
Article
in English
| MEDLINE | ID: mdl-24069336
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