Detalhe da pesquisa
1.
Natural history of KBG syndrome in a large European cohort.
Hum Mol Genet
; 31(24): 4131-4142, 2022 12 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-35861666
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
em 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
em Inglês
| MEDLINE | ID: mdl-36161273
4.
Infantile onset encephalomyopathy, retinopathy, optic atrophy, and mitochondrial DNA depletion associated with a novel pathogenic DHX16 variant.
Clin Genet
; 104(6): 686-693, 2023 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37574199
5.
Psychiatric symptoms in Salla disease.
Eur Child Adolesc Psychiatry
; 32(10): 2043-2047, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-35796883
6.
De Novo Variants in TAOK1 Cause Neurodevelopmental Disorders.
Am J Hum Genet
; 105(1): 213-220, 2019 07 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31230721
7.
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
em Inglês
| MEDLINE | ID: mdl-35908151
8.
Cytosolic phosphoenolpyruvate carboxykinase deficiency: Expanding the clinical phenotype and novel laboratory findings.
J Inherit Metab Dis
; 45(2): 223-234, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34622459
9.
Loss of DIAPH1 causes SCBMS, combined immunodeficiency, and mitochondrial dysfunction.
J Allergy Clin Immunol
; 148(2): 599-611, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33662367
10.
Epidemiological, clinical, and genetic characteristics of paediatric genetic white matter disorders in Northern Finland.
Dev Med Child Neurol
; 63(9): 1066-1074, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33948933
11.
The CHD8 overgrowth syndrome: A detailed evaluation of an emerging overgrowth phenotype in 27 patients.
Am J Med Genet C Semin Med Genet
; 181(4): 557-564, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31721432
12.
Biallelic loss-of-function P4HTM gene variants cause hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye abnormalities (HIDEA syndrome).
Genet Med
; 21(10): 2355-2363, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30940925
13.
Gain-of-function SAMD9L mutations cause a syndrome of cytopenia, immunodeficiency, MDS, and neurological symptoms.
Blood
; 129(16): 2266-2279, 2017 04 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-28202457
14.
Transcription factor 7-like 1 is involved in hypothalamo-pituitary axis development in mice and humans.
Proc Natl Acad Sci U S A
; 113(5): E548-57, 2016 Feb 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-26764381
15.
A mutation update on the LDS-associated genes TGFB2/3 and SMAD2/3.
Hum Mutat
; 39(5): 621-634, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29392890
16.
Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa.
Am J Hum Genet
; 97(3): 483-92, 2015 Sep 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-26320891
17.
Correction: The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT.
Genet Med
; 20(9): 1098, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29300369
18.
The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT.
Genet Med
; 19(1): 104-111, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27362913
19.
Novel homozygous PCK1 mutation causing cytosolic phosphoenolpyruvate carboxykinase deficiency presenting as childhood hypoglycemia, an abnormal pattern of urine metabolites and liver dysfunction.
Mol Genet Metab
; 120(4): 337-341, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28216384
20.
Adrenomyeloneuropathy due to mutation in the ABCD1 gene as underlying factor in spastic paraparesis.
Duodecim
; 133(7): 683-7, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-29243459