Detalhe da pesquisa
1.
Genetic testing in motor neuron disease and frontotemporal dementia: a 5-year multicentre evaluation.
J Med Genet
; 59(6): 544-548, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33963046
2.
Genomic testing in neurology.
Pract Neurol
; 23(5): 420-429, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-37468300
3.
The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction.
Genet Med
; 23(2): 352-362, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33106617
4.
De Novo Truncating Mutations in the Kinetochore-Microtubules Attachment Gene CHAMP1 Cause Syndromic Intellectual Disability.
Hum Mutat
; 37(4): 354-8, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26751395
5.
Börjeson-Forssman-Lehmann syndrome: delineating the clinical and allelic spectrum in 14 new families.
Eur J Hum Genet
; 31(12): 1421-1429, 2023 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37704779
6.
Further delineation of the clinical spectrum of White-Sutton syndrome: 12 new individuals and a review of the literature.
Eur J Hum Genet
; 30(1): 95-100, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34645992
7.
A mild case of acromesomelic dysplasia, type Maroteaux with novel natriuretic peptide receptor B (NPR2) variants.
Radiol Case Rep
; 16(8): 2240-2243, 2021 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-34178199
8.
Steroid-resistant nephrotic syndrome with mutations in NPHS2 (podocin): report from a three-generation family.
Clin Kidney J
; 7(3): 303-5, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25852895
9.
Cerebral cavernous malformation: clinical report of two families with variable phenotype associated with KRIT1 mutation.
Eur J Paediatr Neurol
; 17(6): 661-5, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23806994