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1.
A 132 bp deletion affecting the KCNQ1OT1 gene associated with Silver-Russell syndrome clinical phenotype.
J Med Genet
; 60(2): 134-136, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-35772847
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2.
A novel CHD3 variant in a patient with central precocious puberty: Expanded phenotype of Snijders Blok-Campeau syndrome?
Am J Med Genet A
; 191(4): 1065-1069, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36565043
3.
Phenotypic spectrum associated with pathogenic mutation in the NRG1 gene in Acadian family.
Am J Med Genet A
; 185(4): 1211-1215, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33421311
4.
Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly is caused by a duplication in RUNX2.
Am J Hum Genet
; 92(2): 252-8, 2013 Feb 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-23290074
5.
Osteogenesis imperfecta.
Pediatr Endocrinol Rev
; 10 Suppl 2: 397-405, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23858623
6.
Dividend policy and crisis: Exploring the interplay between performance and financial constraints in the French context.
Heliyon
; 9(10): e20586, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-37842631
7.
Novel dermatological and skeletal features associated with PTEN variant in PTEN hamartoma tumor syndrome.
Eur J Med Genet
; 66(8): 104798, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-37307869
8.
Pathogenic variants carrier screening in New Brunswick: Acadians reveal high carrier frequency for multiple genetic disorders.
BMC Med Genomics
; 15(1): 98, 2022 04 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-35488281
9.
Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly in a Finnish woman: first confirmation of a duplication in RUNX2 as pathogenic variant.
Eur J Med Genet
; 57(11-12): 617-20, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-25311905
10.
Abnormalities in muscle density and muscle function in hypophosphatemic rickets.
J Clin Endocrinol Metab
; 97(8): E1492-8, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22639288