Detalhe da pesquisa
1.
Genetic complexity of diagnostically unresolved Ehlers-Danlos syndrome.
J Med Genet
; 61(3): 232-238, 2024 Feb 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37813462
2.
Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update.
Hum Mutat
; 37(2): 148-54, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26507355
3.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-25846194
4.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-24311407
5.
Association of De Novo RNF213 Variants With Childhood Onset Moyamoya Disease and Diffuse Occlusive Vasculopathy.
Neurology
; 96(13): e1783-e1791, 2021 03 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-33568546
6.
Mental retardation, premature balding, small genitalia, small acra and small patellae in brothers: confirmation of an entity.
Eur J Med Genet
; 53(5): 314-7, 2010.
Artigo
em Inglês
| MEDLINE | ID: mdl-20624501
7.
Unusual neuroradiological features in Schinzel-Giedion syndrome: a novel case.
Clin Dysmorphol
; 21(3): 152-154, 2012 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-22473152
8.
Adams-Oliver syndrome, a family with dominant inheritance and a severe phenotype.
Clin Dysmorphol
; 20(4): 210-213, 2011 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-21785343