Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2002 1
2003 1
2006 1
2007 1
2008 3
2009 3
2010 8
2011 5
2012 4
2013 3
2014 4
2015 2
2016 3
2017 5
2018 11
2019 9
2020 12
2021 12
2022 13
2023 5
2024 2

Text availability

Article attribute

Article type

Publication date

Search Results

90 results

Results by year

Filters applied: . Clear all
Page 1
Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies.
Opladen T, López-Laso E, Cortès-Saladelafont E, Pearson TS, Sivri HS, Yildiz Y, Assmann B, Kurian MA, Leuzzi V, Heales S, Pope S, Porta F, García-Cazorla A, Honzík T, Pons R, Regal L, Goez H, Artuch R, Hoffmann GF, Horvath G, Thöny B, Scholl-Bürgi S, Burlina A, Verbeek MM, Mastrangelo M, Friedman J, Wassenberg T, Jeltsch K, Kulhánek J, Kuseyri Hübschmann O; International Working Group on Neurotransmitter related Disorders (iNTD). Opladen T, et al. Among authors: horvath g. Orphanet J Rare Dis. 2020 May 26;15(1):126. doi: 10.1186/s13023-020-01379-8. Orphanet J Rare Dis. 2020. PMID: 32456656 Free PMC article. Review.
Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study.
Elliott AM, Adam S, du Souich C, Lehman A, Nelson TN, van Karnebeek C, Alderman E, Armstrong L, Aubertin G, Blood K, Boelman C, Boerkoel C, Bretherick K, Brown L, Chijiwa C, Clarke L, Couse M, Creighton S, Watts-Dickens A, Gibson WT, Gill H, Tarailo-Graovac M, Hamilton S, Heran H, Horvath G, Huang L, Hulait GK, Koehn D, Lee HK, Lewis S, Lopez E, Louie K, Niederhoffer K, Matthews A, Meagher K, Peng JJ, Patel MS, Race S, Richmond P, Rupps R, Salvarinova R, Seath K, Selby K, Steinraths M, Stockler S, Tang K, Tyson C, van Allen M, Wasserman W, Mwenifumbo J, Friedman JM. Elliott AM, et al. Among authors: horvath g. HGG Adv. 2022 Apr 18;3(3):100108. doi: 10.1016/j.xhgg.2022.100108. eCollection 2022 Jul 14. HGG Adv. 2022. PMID: 35599849 Free PMC article.
SETD1B-associated neurodevelopmental disorder.
Roston A, Evans D, Gill H, McKinnon M, Isidor B, Cogné B, Mwenifumbo J, van Karnebeek C, An J, Jones SJM, Farrer M, Demos M, Connolly M, Gibson WT; CAUSES Study; EPGEN Study. Roston A, et al. J Med Genet. 2021 Mar;58(3):196-204. doi: 10.1136/jmedgenet-2019-106756. Epub 2020 Jun 16. J Med Genet. 2021. PMID: 32546566
Psychiatric Manifestations in Patients with Biopterin Defects.
Parfyonov M, Friedlander R, Banno B, Elbe D, Horvath G. Parfyonov M, et al. Among authors: horvath g. Neuropediatrics. 2022 Jun;53(3):176-181. doi: 10.1055/s-0042-1742323. Epub 2022 Jan 28. Neuropediatrics. 2022. PMID: 35098520 Review.
Protective Effects of PACAP in Peripheral Organs.
Toth D, Szabo E, Tamas A, Juhasz T, Horvath G, Fabian E, Opper B, Szabo D, Maugeri G, D'Amico AG, D'Agata V, Vicena V, Reglodi D. Toth D, et al. Among authors: horvath g. Front Endocrinol (Lausanne). 2020 Jul 14;11:377. doi: 10.3389/fendo.2020.00377. eCollection 2020. Front Endocrinol (Lausanne). 2020. PMID: 32765418 Free PMC article. Review.
Macrocytosis in Mitochondrial DNA Deletion Syndromes.
Almarzooqi F, Vallance H, Mezei M, Lehman A, Horvath G, Rakic B, Zypchen L, Mattman A. Almarzooqi F, et al. Among authors: horvath g. Acta Haematol. 2023;146(3):220-225. doi: 10.1159/000529311. Epub 2023 Feb 10. Acta Haematol. 2023. PMID: 36774923 Review.
Aminoacyl-tRNA synthetases in human health and disease.
Turvey AK, Horvath GA, Cavalcanti ARO. Turvey AK, et al. Among authors: horvath ga. Front Physiol. 2022 Oct 18;13:1029218. doi: 10.3389/fphys.2022.1029218. eCollection 2022. Front Physiol. 2022. PMID: 36330207 Free PMC article. Review.
Clinical and electrophysiological features of SCN8A variants causing episodic or chronic ataxia.
Lyu H, Boßelmann CM, Johannesen KM, Koko M, Ortigoza-Escobar JD, Aguilera-Albesa S, Garcia-Navas Núñez D, Linnankivi T, Gaily E, van Ruiten HJA, Richardson R, Betzler C, Horvath G, Brilstra E, Geerdink N, Orsucci D, Tessa A, Gardella E, Fleszar Z, Schöls L, Lerche H, Møller RS, Liu Y. Lyu H, et al. Among authors: horvath g. EBioMedicine. 2023 Dec;98:104855. doi: 10.1016/j.ebiom.2023.104855. Epub 2023 Oct 28. EBioMedicine. 2023. PMID: 38251463 Free PMC article.
90 results