Detalhe da pesquisa
1.
Mutations of GPR126 are responsible for severe arthrogryposis multiplex congenita.
Am J Hum Genet
; 96(6): 955-61, 2015 Jun 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-26004201
2.
Complex sarcolemmal invaginations mimicking myotendinous junctions in a case of Laing early-onset distal myopathy.
Neuropathology
; 35(6): 575-81, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26094647
3.
Novel mutations widen the phenotypic spectrum of slow skeletal/ß-cardiac myosin (MYH7) distal myopathy.
Hum Mutat
; 35(7): 868-79, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24664454
4.
Partial deficiency of the C-terminal-domain phosphatase of RNA polymerase II is associated with congenital cataracts facial dysmorphism neuropathy syndrome.
Nat Genet
; 35(2): 185-9, 2003 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-14517542
5.
Elevated water temperature and carbon dioxide concentration increase the growth of a keystone echinoderm.
Proc Natl Acad Sci U S A
; 106(23): 9316-21, 2009 Jun 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-19470464
6.
Anxiety and depression in a sample of UK college students: a study of prevalence, comorbidity, and quality of life.
J Am Coll Health
; 69(8): 813-819, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-31995452
7.
WGS and RNA Studies Diagnose Noncoding DMD Variants in Males With High Creatine Kinase.
Neurol Genet
; 7(1): e554, 2021 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-33977140
8.
Targeted gene panel use in 2249 neuromuscular patients: the Australasian referral center experience.
Ann Clin Transl Neurol
; 7(3): 353-362, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32153140
9.
Recessive MYH7-related myopathy in two families.
Neuromuscul Disord
; 29(6): 456-467, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31130376
10.
Clinical spectrum of CMT4C disease in patients homozygous for the p.Arg1109X mutation in SH3TC2.
Neuromuscul Disord
; 16(7): 449-53, 2006 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-16806930
11.
Quantifying the Effects of Predator and Prey Body Size on Sea Star Feeding Behaviors.
Biol Bull
; 228(3): 192-200, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-26124446
12.
A mutation in MT-TW causes a tRNA processing defect and reduced mitochondrial function in a family with Leigh syndrome.
Mitochondrion
; 25: 113-9, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26524491
13.
Congenital cataracts facial dysmorphism neuropathy (CCFDN) syndrome: a rare cause of parainfectious rhabdomyolysis.
Eur J Pediatr
; 166(7): 747-9, 2007 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-17195938
14.
Founder mutation causing infantile GM1-gangliosidosis in the Gypsy population.
Mol Genet Metab
; 88(1): 93-5, 2006 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-16466959
15.
Ocular features of the congenital cataracts facial dysmorphism neuropathy syndrome.
Ophthalmology
; 111(7): 1415-23, 2004 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-15234148
16.
Mutation history of the roma/gypsies.
Am J Hum Genet
; 75(4): 596-609, 2004 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-15322984