Detalhe da pesquisa
1.
Alterations of bone material properties in adult patients with X-linked hypophosphatemia (XLH).
J Struct Biol
; 211(3): 107556, 2020 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32619592
2.
CDK10 Mutations in Humans and Mice Cause Severe Growth Retardation, Spine Malformations, and Developmental Delays.
Am J Hum Genet
; 101(3): 391-403, 2017 Sep 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28886341
3.
Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures.
Hum Mol Genet
; 22(10): 2055-66, 2013 May 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-23393157
4.
Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian families.
Neurogenetics
; 15(2): 117-27, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24643514
5.
Identifying adult hypophosphatasia in the rheumatology unit.
Orphanet J Rare Dis
; 17(1): 435, 2022 12 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-36514157
6.
Further evidence for the pathogenicity of 15q24 microduplications distal to the minimal critical regions.
Am J Med Genet A
; 152A(12): 3173-8, 2010 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-21108404
7.
Novel PHEX mutation associated with hypophosphatemic rickets.
Nephron Physiol
; 106(1): p8-12, 2007.
Artigo
em Inglês
| MEDLINE | ID: mdl-17406123
8.
Re-alignment-procedures for skeletal dysplasia in three patients with genetically diverse syndromes.
Orthop Surg
; 5(1): 33-9, 2013 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-23420745
9.
Extra phenotypic features in a girl with Miller syndrome.
Clin Dysmorphol
; 20(2): 66-72, 2011 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-21346561
10.
Facial dysmorphism associated with distinctive spine abnormalities in a girl and her mother: novel syndromic association.
Clin Dysmorphol
; 20(4): 182-186, 2011 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-21814137
11.
Altered bone matrix mineralization in a patient with Rett syndrome.
Bone
; 47(3): 701-5, 2010 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-20601296
12.
Acroform type of enchondromatosis associated with severe vertebral involvement and facial dysmorphism in a boy with a new variant of enchondromatosis type I1 of Spranger: case report and a review of the literature.
Cases J
; 1(1): 324, 2008 Nov 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-19017386
13.
A patient with melorheostosis manifesting with features similar to tricho-dento-osseous syndrome: a case report.
J Med Case Rep
; 2: 51, 2008 Feb 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-18284671
14.
Vertebral hyperostosis, ankylosed vertebral fracture and atlantoaxial rotatory subluxation in an elderly patient with a history of infantile idiopathic scoliosis; a case report.
J Med Case Rep
; 1: 25, 2007 Jun 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-17553141