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
2001 1
2002 4
2003 3
2004 4
2005 4
2006 2
2007 3
2008 4
2009 3
2010 4
2011 2
2012 6
2013 8
2014 8
2015 10
2016 6
2017 9
2018 3
2019 7
2020 12
2021 11
2022 7
2023 5
2024 6

Text availability

Article attribute

Article type

Publication date

Search Results

112 results

Results by year

Filters applied: . Clear all
Page 1
Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia.
Baumgartner MR, Hörster F, Dionisi-Vici C, Haliloglu G, Karall D, Chapman KA, Huemer M, Hochuli M, Assoun M, Ballhausen D, Burlina A, Fowler B, Grünert SC, Grünewald S, Honzik T, Merinero B, Pérez-Cerdá C, Scholl-Bürgi S, Skovby F, Wijburg F, MacDonald A, Martinelli D, Sass JO, Valayannopoulos V, Chakrapani A. Baumgartner MR, et al. Among authors: haliloglu g. Orphanet J Rare Dis. 2014 Sep 2;9:130. doi: 10.1186/s13023-014-0130-8. Orphanet J Rare Dis. 2014. PMID: 25205257 Free PMC article. Review.
Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision.
Forny P, Hörster F, Ballhausen D, Chakrapani A, Chapman KA, Dionisi-Vici C, Dixon M, Grünert SC, Grunewald S, Haliloglu G, Hochuli M, Honzik T, Karall D, Martinelli D, Molema F, Sass JO, Scholl-Bürgi S, Tal G, Williams M, Huemer M, Baumgartner MR. Forny P, et al. Among authors: haliloglu g. J Inherit Metab Dis. 2021 May;44(3):566-592. doi: 10.1002/jimd.12370. Epub 2021 Mar 9. J Inherit Metab Dis. 2021. PMID: 33595124 Free PMC article.
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.
Bachmann-Gagescu R, Dempsey JC, Phelps IG, O'Roak BJ, Knutzen DM, Rue TC, Ishak GE, Isabella CR, Gorden N, Adkins J, Boyle EA, de Lacy N, O'Day D, Alswaid A, Ramadevi A R, Lingappa L, Lourenço C, Martorell L, Garcia-Cazorla À, Ozyürek H, Haliloğlu G, Tuysuz B, Topçu M; University of Washington Center for Mendelian Genomics; Chance P, Parisi MA, Glass IA, Shendure J, Doherty D. Bachmann-Gagescu R, et al. Among authors: haliloglu g. J Med Genet. 2015 Aug;52(8):514-22. doi: 10.1136/jmedgenet-2015-103087. Epub 2015 Jun 19. J Med Genet. 2015. PMID: 26092869 Free PMC article.
Neonatal presentations of neuromuscular disorders.
Haliloglu G. Haliloglu G. Eur J Paediatr Neurol. 2022 May;38:A6-A11. doi: 10.1016/j.ejpn.2022.04.003. Epub 2022 Apr 25. Eur J Paediatr Neurol. 2022. PMID: 35570117 Review.
Arthrogryposis and fetal hypomobility syndrome.
Haliloglu G, Topaloglu H. Haliloglu G, et al. Handb Clin Neurol. 2013;113:1311-9. doi: 10.1016/B978-0-444-59565-2.00003-4. Handb Clin Neurol. 2013. PMID: 23622356 Review.
Glycosylation defects in muscular dystrophies.
Haliloğlu G, Topaloğlu H. Haliloğlu G, et al. Curr Opin Neurol. 2004 Oct;17(5):521-7. doi: 10.1097/00019052-200410000-00002. Curr Opin Neurol. 2004. PMID: 15367856 Review.
The genomic and clinical landscape of fetal akinesia.
Pergande M, Motameny S, Özdemir Ö, Kreutzer M, Wang H, Daimagüler HS, Becker K, Karakaya M, Ehrhardt H, Elcioglu N, Ostojic S, Chao CM, Kawalia A, Duman Ö, Koy A, Hahn A, Reimann J, Schoner K, Schänzer A, Westhoff JH, Schwaibold EMC, Cossee M, Imbert-Bouteille M, von Pein H, Haliloglu G, Topaloglu H, Altmüller J, Nürnberg P, Thiele H, Heller R, Cirak S. Pergande M, et al. Among authors: haliloglu g. Genet Med. 2020 Mar;22(3):511-523. doi: 10.1038/s41436-019-0680-1. Epub 2019 Nov 4. Genet Med. 2020. PMID: 31680123 Free article.
Inflammatory milieu of muscle biopsies in juvenile dermatomyositis.
Sag E, Kale G, Haliloglu G, Bilginer Y, Akcoren Z, Orhan D, Gucer S, Topaloglu H, Ozen S, Talim B. Sag E, et al. Among authors: haliloglu g. Rheumatol Int. 2021 Jan;41(1):77-85. doi: 10.1007/s00296-020-04735-w. Epub 2020 Oct 26. Rheumatol Int. 2021. PMID: 33106894
112 results