Detalhe da pesquisa
1.
MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement.
Acta Neuropathol
; 138(6): 1013-1031, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31463572
2.
Whole-exome sequencing is a valuable diagnostic tool for inherited peripheral neuropathies: Outcomes from a cohort of 50 families.
Clin Genet
; 93(2): 301-309, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28708278
3.
Autosomal recessive mutations in THOC6 cause intellectual disability: syndrome delineation requiring forward and reverse phenotyping.
Clin Genet
; 91(1): 92-99, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27102954
4.
Debunking Occam's razor: Diagnosing multiple genetic diseases in families by whole-exome sequencing.
Clin Genet
; 92(3): 281-289, 2017 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-28170084
5.
Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: toward recommendation for molecular testing and management.
Clin Genet
; 89(4): 501-506, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26497935
6.
Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care.
Clin Genet
; 89(3): 275-84, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26283276
7.
Whole-exome sequencing broadens the phenotypic spectrum of rare pediatric epilepsy: a retrospective study.
Clin Genet
; 88(1): 34-40, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25046240
8.
A founder mutation in BBS2 is responsible for Bardet-Biedl syndrome in the Hutterite population: utility of SNP arrays in genetically heterogeneous disorders.
Clin Genet
; 78(5): 424-31, 2010 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-20618352
9.
Septoplasty with alar battens for the treatment of alar collapse: how we do it.
Clin Otolaryngol
; 36(6): 575-8, 2011 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-22212543
10.
ASPP2 deficiency causes features of 1q41q42 microdeletion syndrome.
Cell Death Differ
; 23(12): 1973-1984, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27447114
11.
Third case of cerebral, ocular, dental, auricular, skeletal anomalies (CODAS) syndrome, further delineating a new malformation syndrome: first report of an affected male and review of literature.
Am J Med Genet
; 102(1): 44-7, 2001 Jul 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-11471171
12.
Familial trigeminal neuralgia. Case report and review of the literature.
J Neurosurg
; 95(3): 513-7, 2001 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-11565877
13.
Biallelic mutations at PPARG cause a congenital, generalized lipodystrophy similar to the Berardinelli-Seip syndrome.
Eur J Med Genet
; 57(9): 524-6, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-24980513
14.
Update on Kleefstra Syndrome.
Mol Syndromol
; 2(3-5): 202-212, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22670141
15.
Identification of eight novel NSD1 mutations in Sotos syndrome.
J Med Genet
; 40(11): e126, 2003 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-14627693
16.
Asymmetric crying facies and associated congenital anomalies: the contribution of 22q11 microdeletions.
J Child Neurol
; 16(10): 778, 2001 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-11669357
17.
Ataxia, delayed dentition and hypomyelination: a novel leukoencephalopathy.
Neuropediatrics
; 38(2): 64-70, 2007 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-17712733
18.
Genetic landmarks through philately: Woodrow Wilson 'Woody' Guthrie and Huntington disease.
Clin Genet
; 61(4): 263-7, 2002 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-12030890
19.
Hepatic carnitine palmitoyltransferase I deficiency presenting as maternal illness in pregnancy.
Pediatr Res
; 47(1): 43-5, 2000 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-10625081
20.
Bowen-Conradi syndrome: a clinical and genetic study.
Am J Med Genet A
; 120A(3): 423-8, 2003 Jul 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-12838567