Detalhe da pesquisa
1.
Guidelines for investigating causality of sequence variants in human disease.
Nature
; 508(7497): 469-76, 2014 Apr 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-24759409
2.
Pathogenic FBN1 variants in familial thoracic aortic aneurysms and dissections.
Clin Genet
; 89(6): 719-23, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-26621581
3.
Targeted genomic enrichment and massively parallel sequencing identifies novel nonsyndromic hearing impairment pathogenic variants in Cameroonian families.
Clin Genet
; 90(3): 288-90, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27246798
4.
A homozygous missense mutation in SLC25A16 associated with autosomal recessive isolated fingernail dysplasia in a Pakistani family.
Br J Dermatol
; 178(2): 556-558, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28504827
5.
Test Performance and Potential Clinical Utility of the GenMark Dx ePlex Blood Culture Identification Gram-Negative Panel.
Microbiol Spectr
; 11(1): e0409222, 2023 02 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-36688641
6.
Novel TMPRSS3 variants in Pakistani families with autosomal recessive non-syndromic hearing impairment.
Clin Genet
; 82(1): 56-63, 2012 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-21534946
7.
Analytical performance and potential clinical utility of the GenMark Dx ePlex® blood culture identification gram-positive panel.
Diagn Microbiol Infect Dis
; 104(3): 115762, 2022 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-35988351
8.
A novel g.-1258G>A mutation in a conserved putative regulatory element of PAX9 is associated with autosomal dominant molar hypodontia.
Clin Genet
; 80(3): 265-72, 2011 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-21443745
9.
A novel missense variant in the PNPLA1 gene underlies congenital ichthyosis in three consanguineous families.
J Eur Acad Dermatol Venereol
; 30(12): e210-e213, 2016 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26691440
10.
Neuromancer1 and Neuromancer2 regulate cell fate specification in the developing embryonic CNS of Drosophila melanogaster.
Dev Biol
; 325(1): 138-50, 2009 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-19013145
11.
Novel OTOA mutations cause autosomal recessive non-syndromic hearing impairment in Pakistani families.
Clin Genet
; 84(3): 294-6, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23173898
12.
Homeopathic practice in Intensive Care Units: objective semiology, symptom selection and a series of sepsis cases.
Homeopathy
; 97(4): 206-13, 2008 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-19371570
13.
A mutation in the hair matrix and cuticle keratin KRTHB5 gene causes ectodermal dysplasia of hair and nail type.
J Med Genet
; 43(3): 274-9, 2006 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-16525032
14.
AUNX1, a novel locus responsible for X linked recessive auditory and peripheral neuropathy, maps to Xq23-27.3.
J Med Genet
; 43(7): e33, 2006 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-16816020
15.
Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed syndrome).
J Med Genet
; 42(7): 551-7, 2005 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-15994876
16.
Genetic and physiologic analysis of the role of uncoupling protein 3 in human energy homeostasis.
Diabetes
; 48(9): 1890-5, 1999 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-10480626
17.
Nephropathic cystinosis (CTNS-LSB): construction of a YAC contig comprising the refined critical region on chromosome 17p13.
Eur J Hum Genet
; 5(1): 9-14, 1997.
Artigo
em Inglês
| MEDLINE | ID: mdl-9156315
18.
A second middle eastern kindred with autosomal recessive non-syndromic hearing loss segregates DFNB9.
Eur J Hum Genet
; 6(4): 341-4, 1998.
Artigo
em Inglês
| MEDLINE | ID: mdl-9781041
19.
Phenotypes and genetic analysis of psychiatric and neuropsychiatric traits.
Am J Med Genet
; 105(1): 4-7, 2001 Jan 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-11424993
20.
Novel and previously reported single-nucleotide polymorphisms in the human 5-HT(1B) receptor gene: no association with cocaine or alcohol abuse or dependence.
Am J Med Genet
; 105(6): 489-97, 2001 Aug 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-11496363