Detalhe da pesquisa
1.
Duplication Xp11.22-p14 in females: does X-inactivation help in assessing their significance?
Am J Med Genet A
; 167A(3): 553-62, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25691408
2.
Mosaic deletion of EXOC6B: further evidence for an important role of the exocyst complex in the pathogenesis of intellectual disability.
Am J Med Genet A
; 164A(12): 3088-94, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25256811
3.
3p25.3 microdeletion of GABA transporters SLC6A1 and SLC6A11 results in intellectual disability, epilepsy and stereotypic behavior.
Am J Med Genet A
; 164A(12): 3061-8, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25256099
4.
The phenotypic spectrum of duplication 5q35.2-q35.3 encompassing NSD1: is it really a reversed Sotos syndrome?
Am J Med Genet A
; 161A(9): 2158-66, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23913520
5.
Disruption of SOX6 is associated with a rapid-onset dopa-responsive movement disorder, delayed development, and dysmorphic features.
Pediatr Neurol
; 52(1): 115-8, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25439488
6.
Characterization of the first intragenic SATB2 duplication in a girl with intellectual disability, nearly absent speech and suspected hypodontia.
Eur J Hum Genet
; 23(5): 704-7, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25118029
7.
Five children with deletions of 1p34.3 encompassing AGO1 and AGO3.
Eur J Hum Genet
; 23(6): 761-5, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25271087
8.
Hipercalcemia secundária à necrose de tecido adiposo subcutâneo / Hypercalcemia secondary to subcutaneous fat necrosis
Arq. bras. endocrinol. metab
; 47(2): 198-202, abr. 2003. ilus, tab
Artigo
em Português
| LILACS | ID: lil-337109