Detalhe da pesquisa
1.
Mendelian inheritance revisited: dominance and recessiveness in medical genetics.
Nat Rev Genet
; 24(7): 442-463, 2023 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-36806206
2.
Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations.
Am J Hum Genet
; 108(11): 2195-2204, 2021 11 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34715011
3.
Constitutional Microsatellite Instability, Genotype, and Phenotype Correlations in Constitutional Mismatch Repair Deficiency.
Gastroenterology
; 164(4): 579-592.e8, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36586540
4.
Sleep-stage dependence and co-existence of cardio-respiratory coordination and phase synchronization.
Chaos
; 34(4)2024 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38572945
5.
The Genetic Landscape and Epidemiology of Phenylketonuria.
Am J Hum Genet
; 107(2): 234-250, 2020 08 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32668217
6.
Filling the gap: Genetic risk assessment in hypercholesterolemia using LDL-C and LPA genetic scores.
Clin Genet
; 104(3): 334-343, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37417318
7.
Amp(1q) and tetraploidy are commonly acquired chromosomal abnormalities in relapsed multiple myeloma.
Eur J Haematol
; 110(3): 296-304, 2023 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-36433728
8.
Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: Third revision.
J Inherit Metab Dis
; 46(3): 482-519, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36221165
9.
Gregor Mendel and the concepts of dominance and recessiveness.
Nat Rev Genet
; 23(7): 387-388, 2022 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-35508637
10.
ost in promiscuity? An evolutionary and biochemical evaluation of HSD10 function in cardiolipin metabolism.
Cell Mol Life Sci
; 79(11): 562, 2022 Oct 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-36271951
11.
Constitutional POLE variants causing a phenotype reminiscent of constitutional mismatch repair deficiency.
Hum Mutat
; 43(1): 85-96, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34816535
12.
The lipid environment modulates cardiolipin and phospholipid constitution in wild type and tafazzin-deficient cells.
J Inherit Metab Dis
; 45(1): 38-50, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34494285
13.
Sarcoid-like lesions obfuscating the diagnosis of disseminated Mycobacterium genavense infection in a patient with IL-12Rß1-associated immunodeficiency.
BMC Infect Dis
; 22(1): 770, 2022 Oct 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36192705
14.
Oral characteristics in adult individuals with periodontal Ehlers-Danlos syndrome.
J Clin Periodontol
; 49(12): 1244-1252, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35833531
15.
Clonal dynamics in a composite chronic lymphocytic leukemia and hairy cell leukemia-variant.
Genes Chromosomes Cancer
; 60(4): 287-292, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33277788
16.
Fatty acyl availability modulates cardiolipin composition and alters mitochondrial function in HeLa cells.
J Lipid Res
; 62: 100111, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34450173
17.
Oral manifestations of Ehlers-Danlos syndromes.
Am J Med Genet C Semin Med Genet
; 187(4): 520-526, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34741498
18.
Prospective clinical investigations of children with periodontal Ehlers-Danlos syndrome identify generalized lack of attached gingiva as a pathognomonic feature.
Genet Med
; 23(2): 316-322, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33005042
19.
An international classification of inherited metabolic disorders (ICIMD).
J Inherit Metab Dis
; 44(1): 164-177, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33340416
20.
The genetic counseling profession in Austria: Stakeholders' perspectives.
J Genet Couns
; 30(3): 861-871, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33797821