Detalhe da pesquisa
1.
An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome.
Am J Hum Genet
; 109(10): 1867-1884, 2022 10 06.
Artigo
Inglês
| MEDLINE | ID: mdl-36130591
2.
Biallelic hexokinase 1 (HK1) variants causative of non-spherocytic haemolytic anaemia: A case series with emphasis on the HK1 promoter variant and literature review.
Br J Haematol
; 204(5): 2040-2048, 2024 May.
Artigo
Inglês
| MEDLINE | ID: mdl-38415930
3.
ATM c.7570G>C is a high-risk allele for breast cancer.
Int J Cancer
; 152(3): 429-435, 2023 02 01.
Artigo
Inglês
| MEDLINE | ID: mdl-36161273
4.
HIDEA syndrome is caused by biallelic, pathogenic, rare or founder P4HTM variants impacting the active site or the overall stability of the P4H-TM protein.
Clin Genet
; 102(5): 444-450, 2022 11.
Artigo
Inglês
| MEDLINE | ID: mdl-35908151
5.
Expanding the clinical spectrum of biglycan-related Meester-Loeys syndrome.
NPJ Genom Med
; 9(1): 22, 2024 Mar 26.
Artigo
Inglês
| MEDLINE | ID: mdl-38531898
6.
Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study.
Eur J Hum Genet
; 2024 Feb 15.
Artigo
Inglês
| MEDLINE | ID: mdl-38355961
7.
Pathogenic REST variant causing Jones syndrome and a review of the literature.
Eur J Hum Genet
; 31(4): 469-473, 2023 04.
Artigo
Inglês
| MEDLINE | ID: mdl-36509837
8.
Clinical and Genetic Characteristics of Finnish Patients with Autosomal Recessive and Dominant Non-Syndromic Hearing Loss Due to Pathogenic TMC1 Variants.
J Clin Med
; 11(7)2022 Mar 26.
Artigo
Inglês
| MEDLINE | ID: mdl-35407445
9.
Correction: Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study.
Eur J Hum Genet
; 2024 Apr 03.
Artigo
Inglês
| MEDLINE | ID: mdl-38565641