Detalhe da pesquisa
1.
Compound heterozygous mutations in the IFT140 gene cause Opitz trigonocephaly C syndrome in a patient with typical features of a ciliopathy.
Clin Genet
; 91(4): 640-646, 2017 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-27874174
2.
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
3.
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
4.
Buschke-Ollendorff syndrome: a novel case series and systematic review.
Br J Dermatol
; 174(4): 723-9, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26708699
5.
Aplasia of cochlear nerves and olfactory bulbs in association with SOX10 mutation.
Am J Med Genet A
; 149A(3): 431-6, 2009 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-19208381
6.
Molecular and clinical characterization of de novo and familial cases with microduplication 3q29: guidelines for copy number variation case reporting.
Cytogenet Genome Res
; 123(1-4): 65-78, 2008.
Artigo
em Inglês
| MEDLINE | ID: mdl-19287140
7.
NSD1 mutations generate a genome-wide DNA methylation signature.
Nat Commun
; 6: 10207, 2015 Dec 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-26690673
8.
A Colombian family with X-linked juvenile retinoschisis with three affected females finding of a frameshift mutation.
Ophthalmic Genet
; 20(1): 37-43, 1999 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-10415464
9.
Omphalocele in trisomy 3q: further delineation of phenotype.
Clin Genet
; 64(5): 404-13, 2003 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-14616763