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.
Biallelic Mutations in UNC80 Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability.
Am J Hum Genet
; 98(1): 202-9, 2016 Jan 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-26708751
3.
De novo and biallelic DEAF1 variants cause a phenotypic spectrum.
Genet Med
; 21(9): 2059-2069, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30923367
4.
Using data from the 100,000 Genomes Project to resolve conflicting interpretations of a recurrent TUBB2A mutation.
J Med Genet
; 59(4): 366-369, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33547136
5.
When the right (Drug) should be left: Prenatal drug exposure and heterotaxy syndrome.
Birth Defects Res A Clin Mol Teratol
; 106(7): 573-9, 2016 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-26991659
6.
Opposite effects on facial morphology due to gene dosage sensitivity.
Hum Genet
; 133(9): 1117-25, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-24889830
7.
Quantification of SMN protein in leucocytes from spinal muscular atrophy patients: effects of treatment with valproic acid.
J Neurol Neurosurg Psychiatry
; 82(8): 850-2, 2011 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-20551479
8.
Pontine tegmental cap dysplasia: a novel brain malformation with a defect in axonal guidance.
Brain
; 130(Pt 9): 2258-66, 2007 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-17690130
9.
CDC73-Related Disorders: Clinical Manifestations and Case Detection in Primary Hyperparathyroidism.
J Clin Endocrinol Metab
; 102(12): 4534-4540, 2017 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29040582
10.
Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome.
Eur J Med Genet
; 58(5): 279-92, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25792522
11.
Coenzyme Q10 deficiency due to a COQ4 gene defect causes childhood-onset spinocerebellar ataxia and stroke-like episodes.
Mol Genet Metab Rep
; 17: 19-21, 2018 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-30225196
12.
Clinical and mutational characteristics of spinal muscular atrophy with respiratory distress type 1 in The Netherlands.
Neuromuscul Disord
; 23(6): 461-8, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23566544
13.
Bohring-Opitz (Oberklaid-Danks) syndrome: clinical study, review of the literature, and discussion of possible pathogenesis.
Eur J Hum Genet
; 19(5): 513-9, 2011 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-21368916
14.
Clinical utility gene card for: Proximal spinal muscular atrophy (SMA) - update 2015.
Eur J Hum Genet
; 23(11)2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25990799
15.
Clinical utility gene card for: proximal spinal muscular atrophy.
Eur J Hum Genet
; 20(6)2012 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-22510849