Detalhe da pesquisa
1.
De novo, heterozygous, loss-of-function mutations in SYNGAP1 cause a syndromic form of intellectual disability.
Am J Med Genet A
; 167A(10): 2231-7, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26079862
2.
Correction to: Bisphosphonate therapy for spinal osteoporosis in Hajdu-Cheney syndrome - new data and literature review.
Orphanet J Rare Dis
; 14(1): 104, 2019 May 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31077240
3.
Bisphosphonate therapy for spinal osteoporosis in Hajdu-Cheney syndrome - new data and literature review.
Orphanet J Rare Dis
; 13(1): 47, 2018 04 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29618366
4.
Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts.
Nat Genet
; 48(10): 1185-92, 2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27571260
5.
Congenital melanocytic naevus with associated neurofibroma and schwannoma-like change.
Clin Dysmorphol
; 14(3): 159-160, 2005 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-15930909
6.
Isochromosome 20p associated with multiple congenital abnormalities.
Clin Dysmorphol
; 14(1): 49-50, 2005 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-15602096
7.
Warsaw Breakage Syndrome--A further report, emphasising cutaneous findings.
Eur J Med Genet
; 58(4): 235-7, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25701697
8.
Corrigendum: Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts.
Nat Genet
; 49(2): 317, 2017 01 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-28138155
9.
The tale of a nail continues: further delineation using CGHarray of the critical region at 4q34 causing the volar nail sign.
Clin Dysmorphol
; 23(4): 152-4, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25003208
10.
Genitourinary malformations as a feature of the Pallister-Hall syndrome.
Clin Dysmorphol
; 15(2): 75-9, 2006 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-16531732
11.
A family with Duane anomaly and distal limb abnormalities: a further family with the arthrogryposis-ophthalmoplegia syndrome.
Am J Med Genet A
; 139A(2): 123-6, 2005 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-16278891
12.
Septo-optic dysplasia, limb anomalies and cutis aplasia: further evidence for overlap between Pagon and Adams-Oliver syndromes.
Clin Dysmorphol
; 18(4): 228-31, 2009 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-19623038