Detalhe da pesquisa
1.
Mapping genomic loci implicates genes and synaptic biology in schizophrenia.
Nature
; 604(7906): 502-508, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35396580
2.
Age-Associated B Cell Features of the Murine High-Grade B Cell Lymphoma Bc.DLFL1 and Its Extranodal Expansion in Abdominal Adipose Tissues.
J Immunol
; 208(12): 2866-2876, 2022 06 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-35867673
3.
Co-occurrence of neurofibromatosis type 1 and pseudoachondroplasia - a first case report.
BMC Pediatr
; 23(1): 110, 2023 03 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-36890482
4.
Copy Number Variations in Neuropsychiatric Disorders.
Int J Mol Sci
; 24(18)2023 Sep 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37761973
5.
Superimposed Mosaicism in the Form of Extremely Extended Segmental Plexiform Neurofibroma Caused by a Novel Pathogenic Variant in the NF1 Gene.
Int J Mol Sci
; 24(15)2023 Jul 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-37569527
6.
Three-Year Follow-Up after Intrauterine mTOR Inhibitor Administration for Fetus with TSC-Associated Rhabdomyoma.
Int J Mol Sci
; 24(16)2023 Aug 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-37629066
7.
Identification of an NF1 Microdeletion with Optical Genome Mapping.
Int J Mol Sci
; 24(17)2023 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37686382
8.
Ancient human genomes suggest three ancestral populations for present-day Europeans.
Nature
; 513(7518): 409-13, 2014 Sep 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-25230663
9.
[A8344G mitochondrial DNA mutation observed in two generations]. / Két generációban megfigyelheto mitokondriális DNS A8344G mutáció.
Orv Hetil
; 158(12): 468-471, 2017 Mar.
Artigo
em Húngaro
| MEDLINE | ID: mdl-28328248
10.
[Importance of gross deletions in the diagnosis of tuberous sclerosis complex: the first Hungarian cases]. / A nagyobb méretu géndeletiók jelentosége a sclerosis tuberosa diagnosztikájában: az elso magyar esetek bemutatása.
Orv Hetil
; 158(30): 1188-1194, 2017 Jul.
Artigo
em Húngaro
| MEDLINE | ID: mdl-28737457
11.
[Rhabdomyolysis - may it be a metabolic myopathy? Case report and diagnostic algorithm]. / Rhabdomyolysis Mikor vessük fel metabolikus myopathia lehetoségét? Esetismertetés és diagnosztikus algoritmus.
Orv Hetil
; 158(47): 1873-1882, 2017 Nov.
Artigo
em Húngaro
| MEDLINE | ID: mdl-29153022
12.
Significant interethnic differencies in functional variants of PON1 and P2RY12 genes in Roma and Hungarian population samples.
Mol Biol Rep
; 42(1): 227-32, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25297118
13.
[De novo SCN1A gene deletion in therapy-resistant Dravet syndrome]. / De novo SCN1A géndeletio terápiarezisztens Dravet-szindrómában.
Orv Hetil
; 156(49): 2009-12, 2015 Dec 06.
Artigo
em Húngaro
| MEDLINE | ID: mdl-26614543
14.
[Genetic testing in hereditary spastic paraplegia]. / Herediter spasticus paraplegia genetikai vizsgálata.
Orv Hetil
; 156(3): 113-7, 2015 Jan 18.
Artigo
em Húngaro
| MEDLINE | ID: mdl-25577683
15.
Importance and application of WES in fetal genetic diagnostics: Identification of novel ASPM mutation in a fetus with microcephaly.
Mol Genet Metab Rep
; 38: 101056, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38469100
16.
Acylcarnitine esters profiling of serum and follicular fluid in patients undergoing in vitro fertilization.
Reprod Biol Endocrinol
; 11: 67, 2013 Jul 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-23866102
17.
Differences in circulating carnitine status of preterm infants fed fortified human milk or preterm infant formula.
J Pediatr Gastroenterol Nutr
; 57(5): 673-6, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23783025
18.
Similarities in serum acylcarnitine patterns in type 1 and type 2 diabetes mellitus and in metabolic syndrome.
Ann Nutr Metab
; 62(1): 80-5, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23296094
19.
Microhomology-Mediated Break-Induced Replication: A Possible Molecular Mechanism of the Formation of a Large CNV in FBN1 Gene in a Patient with Marfan Syndrome.
Curr Mol Med
; 23(5): 433-441, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37038253
20.
Correlation between large FBN1 deletions and severe cardiovascular phenotype in Marfan syndrome: Analysis of two novel cases and analytical review of the literature.
Mol Genet Genomic Med
; 11(7): e2166, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36945115