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1.
P4HB recurrent missense mutation causing Cole-Carpenter syndrome.
J Med Genet
; 55(3): 158-165, 2018 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-29263160
2.
A cohort of 17 patients with kyphoscoliotic Ehlers-Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and mutational spectrum and description of the natural history.
Genet Med
; 20(1): 42-54, 2018 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-28617417
3.
Novel PLS3 variants in X-linked osteoporosis: Exploring bone material properties.
Am J Med Genet A
; 176(7): 1578-1586, 2018 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-29736964
4.
Diagnostic conundrums in antenatal presentation of a skeletal dysplasia with description of a heterozygous C-propeptide mutation in COL1A1 associated with a severe presentation of osteogenesis imperfecta.
Am J Med Genet A
; 170(12): 3303-3307, 2016 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-27549894
5.
Phenotypic variability in patients with osteogenesis imperfecta caused by BMP1 mutations.
Am J Med Genet A
; 170(12): 3150-3156, 2016 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-27576954
6.
CRTAP mutation in a patient with Cole-Carpenter syndrome.
Am J Med Genet A
; 167A(3): 587-91, 2015 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-25604815
7.
Clinical, structural, biochemical and X-ray crystallographic correlates of pathogenicity for variants in the C-propeptide region of the COL3A1 gene.
Am J Med Genet A
; 167A(8): 1763-72, 2015 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-25846194
8.
Four patients with Sillence type I osteogenesis imperfecta and mild bone fragility, complicated by left ventricular cardiac valvular disease and cardiac tissue fragility caused by type I collagen mutations.
Am J Med Genet A
; 164A(2): 386-91, 2014 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-24311407
9.
A novel homozygous variant in SERPINH1 associated with a severe, lethal presentation of osteogenesis imperfecta with hydranencephaly.
Gene
; 595(1): 49-52, 2016 Dec 20.
Artículo
en Inglés
| MEDLINE | ID: mdl-27677223
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