Detalhe da pesquisa
1.
A novel missense mutation affecting the same amino acid as the recurrent PACS1 mutation in Schuurs-Hoeijmakers syndrome.
Clin Genet
; 93(4): 929-930, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28975623
2.
Bilateral cerebellar cysts and cerebral white matter lesions with cortical dysgenesis: Expanding the phenotype of LAMB1 gene mutations.
Clin Genet
; 94(3-4): 391-392, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29888467
3.
PRUNE1-related disorder: Expanding the clinical spectrum.
Clin Genet
; 94(3-4): 362-367, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29797509
4.
Novel biallelic SZT2 mutations in 3 cases of early-onset epileptic encephalopathy.
Clin Genet
; 93(2): 266-274, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28556953
5.
Genetic analysis of adult leukoencephalopathy patients using a custom-designed gene panel.
Clin Genet
; 94(2): 232-238, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29700822
6.
Detection of copy number variations in epilepsy using exome data.
Clin Genet
; 93(3): 577-587, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28940419
7.
Response to Lefebvre et al.
Clin Genet
; 92(5): 563-564, 2017 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-28990171
8.
A case of atypical Kabuki syndrome arising from a novel missense variant in HNRNPK.
Clin Genet
; 92(5): 554-555, 2017 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-28771707
9.
Different X-linked KDM5C mutations in affected male siblings: is maternal reversion error involved?
Clin Genet
; 90(3): 276-81, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-26919706
10.
Delineation of clinical features in Wiedemann-Steiner syndrome caused by KMT2A mutations.
Clin Genet
; 89(1): 115-9, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25810209
11.
Molecular genetic analysis of 30 families with Joubert syndrome.
Clin Genet
; 90(6): 526-535, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27434533
12.
De novo EEF1A2 mutations in patients with characteristic facial features, intellectual disability, autistic behaviors and epilepsy.
Clin Genet
; 87(4): 356-61, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24697219
13.
Mutations in COG2 encoding a subunit of the conserved oligomeric golgi complex cause a congenital disorder of glycosylation.
Clin Genet
; 87(5): 455-60, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24784932
14.
Long-term correction of biochemical and neurological abnormalities in MLD mice model by neonatal systemic injection of an AAV serotype 9 vector.
Gene Ther
; 21(4): 427-33, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24572788
15.
Coffin-Siris syndrome is a SWI/SNF complex disorder.
Clin Genet
; 85(6): 548-54, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23815551
16.
Development of loop-mediated isothermal amplification assay for the detection of Pythium myriotylum.
Lett Appl Microbiol
; 59(1): 49-57, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24612040
17.
Exome sequencing in a family with an X-linked lethal malformation syndrome: clinical consequences of hemizygous truncating OFD1 mutations in male patients.
Clin Genet
; 83(2): 135-44, 2013 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-22548404
18.
Confirmation of SLC5A7-related distal hereditary motor neuropathy 7 in a family outside Wales.
Clin Genet
; 94(2): 274-275, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29782645
19.
Pharmacological treatment of schizophrenia: a critical review of the pharmacology and clinical effects of current and future therapeutic agents.
Mol Psychiatry
; 17(12): 1206-27, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-22584864
20.
Exome sequencing of two patients in a family with atypical X-linked leukodystrophy.
Clin Genet
; 80(2): 161-6, 2011 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-21644943