Detalhe da pesquisa
1.
MPV17 mutations in juvenile- and adult-onset axonal sensorimotor polyneuropathy.
Clin Genet
; 95(1): 182-186, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30298599
2.
PRUNE1 Deficiency: Expanding the Clinical and Genetic Spectrum.
Neuropediatrics
; 49(5): 330-338, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29940663
3.
SLC13A5 is the second gene associated with Kohlschütter-Tönz syndrome.
J Med Genet
; 54(1): 54-62, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27600704
4.
Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway.
Am J Hum Genet
; 95(3): 285-93, 2014 Sep 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-25152457
5.
A survey of tools for variant analysis of next-generation genome sequencing data.
Brief Bioinform
; 15(2): 256-78, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23341494
6.
The phenotype of the musculocontractural type of Ehlers-Danlos syndrome due to CHST14 mutations.
Am J Med Genet A
; 170A(1): 103-15, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26373698
7.
Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss.
Am J Hum Genet
; 90(2): 201-16, 2012 Feb 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-22265013
8.
Severe growth retardation, delayed bone age, and facial dysmorphism in two patients with microduplications in 2p16 â p22.
Am J Med Genet A
; 161A(12): 3176-81, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24115558
9.
Novel mutation in potassium channel related gene KCTD7 and progressive myoclonic epilepsy.
Ann Hum Genet
; 76(4): 326-31, 2012 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-22606975
10.
Loss of dermatan-4-sulfotransferase 1 function results in adducted thumb-clubfoot syndrome.
Am J Hum Genet
; 85(6): 873-82, 2009 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-20004762
11.
Mutations in SPINT2 cause a syndromic form of congenital sodium diarrhea.
Am J Hum Genet
; 84(2): 188-96, 2009 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-19185281
12.
Macrostomia, thin upper vermilion border, long philtrum, broad halluces, and intellectual disability in two sibs.
Am J Med Genet A
; 155A(10): 2465-8, 2011 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-21910233
13.
A further case of familial ring chromosome 20 mosaicism - molecular characterization of the ring and review of the literature.
Eur J Med Genet
; 62(11): 103564, 2019 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-30385235
14.
SYNE1-ataxia: Novel genotypic and phenotypic findings.
Parkinsonism Relat Disord
; 62: 210-214, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30573412
15.
Unknown mutations and genotype/phenotype correlations of autosomal recessive congenital ichthyosis in patients from Saudi Arabia and Pakistan.
Mol Genet Genomic Med
; 7(3): e539, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30600594
16.
Homozygous SYNE1 mutation causes congenital onset of muscular weakness with distal arthrogryposis: a genotype-phenotype correlation.
Eur J Hum Genet
; 25(2): 262-266, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27782104
17.
MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta.
Nat Commun
; 7: 11920, 2016 07 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27380894
18.
Clinical, cytogenetic, and molecular findings in a patient with a 46,XX,del(18)(q22)/46,XX,idic(18)(q22) karyotype.
Eur J Med Genet
; 58(11): 603-7, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26417856
19.
Agenesis of the corpus callosum and gray matter heterotopia in three patients with constitutional mismatch repair deficiency syndrome.
Eur J Hum Genet
; 21(1): 55-61, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22692065
20.
Desbuquois dysplasia type I and fetal hydrops due to novel mutations in the CANT1 gene.
Eur J Hum Genet
; 19(11): 1133-7, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-21654728