Detalhe da pesquisa
1.
Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome.
Am J Hum Genet
; 100(2): 281-296, 2017 02 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28132690
2.
COLEC10 is mutated in 3MC patients and regulates early craniofacial development.
PLoS Genet
; 13(3): e1006679, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28301481
3.
Rapid Paediatric Sequencing (RaPS): comprehensive real-life workflow for rapid diagnosis of critically ill children.
J Med Genet
; 55(11): 721-728, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30049826
4.
Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndrome.
Am J Hum Genet
; 95(5): 611-21, 2014 Nov 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-25439728
5.
Mutations in SLC25A22: hyperprolinaemia, vacuolated fibroblasts and presentation with developmental delay.
J Inherit Metab Dis
; 40(3): 385-394, 2017 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28255779
6.
The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes.
J Med Genet
; 52(3): 147-56, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25564561
7.
Targeted gene panel sequencing in children with very early onset inflammatory bowel disease--evaluation and prospective analysis.
J Med Genet
; 51(11): 748-55, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25194001
8.
Detailed phenotypic and genotypic characterization of bietti crystalline dystrophy.
Ophthalmology
; 121(6): 1174-84, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24480711
9.
Screening of a large cohort of leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlations.
Hum Mutat
; 34(11): 1537-1546, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23946133
10.
ZSWIM7 Is Associated With Human Female Meiosis and Familial Primary Ovarian Insufficiency.
J Clin Endocrinol Metab
; 107(1): e254-e263, 2022 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34402903
11.
Pathogenic variants in the human m6A reader YTHDC2 are associated with primary ovarian insufficiency.
JCI Insight
; 7(5)2022 03 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35138268
12.
Genetic variant of TTLL11 gene and subsequent ciliary defects are associated with idiopathic scoliosis in a 5-generation UK family.
Sci Rep
; 11(1): 11026, 2021 05 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-34040021
13.
A recessive PRDM13 mutation results in congenital hypogonadotropic hypogonadism and cerebellar hypoplasia.
J Clin Invest
; 131(24)2021 12 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-34730112
14.
Author reply: To PMID 24480711.
Ophthalmology
; 122(4): e22, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25797088
15.
The genetic landscape of crystallins in congenital cataract.
Orphanet J Rare Dis
; 15(1): 333, 2020 11 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-33243271
16.
Novel missense variants in the RNF213 gene from a European family with Moyamoya disease.
Hum Genome Var
; 6: 35, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31645973
17.
Mutations in MAGEL2 and L1CAM Are Associated With Congenital Hypopituitarism and Arthrogryposis.
J Clin Endocrinol Metab
; 104(12): 5737-5750, 2019 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31504653
18.
An example of the utility of genomic analysis for fast and accurate clinical diagnosis of complex rare phenotypes.
Orphanet J Rare Dis
; 12(1): 24, 2017 02 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28173822
19.
The use of whole-exome sequencing to disentangle complex phenotypes.
Eur J Hum Genet
; 24(2): 298-301, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26059842
20.
Seizures Due to a KCNQ2 Mutation: Treatment with Vitamin B6.
JIMD Rep
; 27: 79-84, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-26446091