Detalhe da pesquisa
1.
Evaluation of tumour surveillance protocols and outcomes in von Hippel-Lindau disease in a national health service.
Br J Cancer
; 126(9): 1339-1345, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35184155
2.
DOCK6 mutations are responsible for a distinct autosomal-recessive variant of Adams-Oliver syndrome associated with brain and eye anomalies.
Hum Mutat
; 36(6): 593-8, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25824905
3.
DOCK6 Mutations Are Responsible for a Distinct Autosomal-Recessive Variant of Adams-Oliver Syndrome Associated with Brain and Eye Anomalies.
Hum Mutat
; 36(11): 1112, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26457590
4.
Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism.
J Med Genet
; 51(10): 659-68, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25125236
5.
Gain-of-function mutations of ARHGAP31, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomalies.
Am J Hum Genet
; 88(5): 574-85, 2011 May 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-21565291
6.
Chloride channels in myotonia congenita assessed by velocity recovery cycles.
Muscle Nerve
; 49(6): 845-57, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24037712
7.
Pharmacists' knowledge, attitudes, and practices regarding influenza vaccination and treatment of pregnant women.
J Am Pharm Assoc (2003)
; 52(1): 43-51, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-22257615
8.
Investigation and Management of Apparently Sporadic Central Nervous System Haemangioblastoma for Evidence of Von Hippel-Lindau Disease.
Genes (Basel)
; 12(9)2021 09 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-34573396
9.
Vici syndrome associated with sensorineural hearing loss and evidence of neuromuscular involvement on muscle biopsy.
Am J Med Genet A
; 152A(3): 741-7, 2010 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-20186778
10.
The spectra of clinical phenotypes in aplasia cutis congenita and terminal transverse limb defects.
Am J Med Genet A
; 149A(8): 1860-81, 2009 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-19610107
11.
Familial amyotrophic lateral sclerosis with frontotemporal dementia is linked to a locus on chromosome 9p13.2-21.3.
Brain
; 129(Pt 4): 868-76, 2006 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-16495328
12.
Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac Anomalies.
Circ Cardiovasc Genet
; 8(4): 572-581, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25963545
13.
Nasopharyngeal teratoma and diaphragmatic hernia: no longer a random association but a new syndrome?
Clin Dysmorphol
; 18(3): 131-134, 2009 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-19339878
14.
Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6.
Science
; 323(5918): 1208-1211, 2009 Feb 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-19251628
15.
Two families with familial amyotrophic lateral sclerosis are linked to a novel locus on chromosome 16q.
Am J Hum Genet
; 73(2): 390-6, 2003 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-12840784