Detalhe da pesquisa
1.
GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome.
Am J Hum Genet
; 104(1): 35-44, 2019 01 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30554721
2.
Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes.
Am J Hum Genet
; 104(3): 422-438, 2019 03 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30773277
3.
Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.
Am J Hum Genet
; 101(4): 503-515, 2017 Oct 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28942966
4.
Mutations in PCYT1A cause spondylometaphyseal dysplasia with cone-rod dystrophy.
Am J Hum Genet
; 94(1): 113-9, 2014 Jan 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-24387991
5.
Cervicothoracic myelopathy in children with Morquio syndrome A: a report of 4 cases.
J Pediatr Orthop
; 34(2): 223-8, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24096444
6.
Karyotype/phenotype correlation in partial trisomies of the long arm of chromosome 16: case report and review of literature.
Am J Med Genet A
; 158A(4): 821-7, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22354628
7.
A newly recognized syndrome with characteristic facial features, skeletal dysplasia, and developmental delay.
Am J Med Genet A
; 158A(8): 1815-22, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22711505
8.
International Consensus Statement on the diagnosis, multidisciplinary management and lifelong care of individuals with achondroplasia.
Nat Rev Endocrinol
; 18(3): 173-189, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34837063
9.
Stüve-Wiedemann Syndrome: Update on Clinical and Genetic Aspects.
Mol Syndromol
; 7(1): 12-8, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-27194968