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Select item 68499711.

Abdominal aortic aneurysm in a patient with occipital horn syndrome

Elina Quiroga, Rachel Heneghan

J Vasc Surg Cases. 2015 Jun; 1(2): 138–140. Published online 2015 Jun 17. doi: 10.1016/j.jvsc.2015.03.012

PMCID:: PMC6849971

Article PubReader PDF–471K Cite

Select item 66785392.

Defining the Clinical, Molecular and Ultrastructural Characteristics in Occipital Horn Syndrome: Two New Cases and Review of the Literature

Aude Beyens, Kyaran Van Meensel, Lore Pottie, Riet De Rycke, Michiel De Bruyne, Femke Baeke, Piet Hoebeke, Frank Plasschaert, Bart Loeys, Sofie De Schepper, Sofie Symoens, Bert Callewaert

Genes (Basel) 2019 Jul; 10(7): 528. Published online 2019 Jul 12. doi: 10.3390/genes10070528

PMCID:: PMC6678539

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Select item 55229583.

A novel nonsense ATP7A pathogenic variant in a family exhibiting a variable occipital horn syndrome phenotype

Maria Teresa Bonati, Federico Verde, Uros Hladnik, Paola Cattelan, Luca Campana, Chiara Castronovo, Nicola Ticozzi, Luca Maderna, Claudia Colombrita, Sergio Papa, Paolo Banfi, Vincenzo Silani

Mol Genet Metab Rep. 2017 Dec; 13: 14–17. Published online 2017 Jul 21. doi: 10.1016/j.ymgmr.2017.07.007

PMCID:: PMC5522958

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Select item 39539174.

Occipital horn syndrome and classical Menkes Syndrome caused by deep intronic mutations, leading to the activation of ATP7A pseudo-exon

Saiqa Yasmeen, Katrine Lund, Anne De Paepe, Sylvia De Bie, Arvid Heiberg, João Silva, Márcia Martins, Tina Skjørringe, Lisbeth B Møller

Eur J Hum Genet. 2014 Apr; 22(4): 517–521. Published online 2013 Sep 4. doi: 10.1038/ejhg.2013.191

PMCID:: PMC3953917

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Select item 25979225.

Differences in ATP7A gene expression underlie intrafamilial variability in Menkes disease/occipital horn syndrome

Anthony Donsante, Jingrong Tang, Sarah C Godwin, Courtney S Holmes, David S Goldstein, Alexander Bassuk, Stephen G Kaler

J Med Genet. 2007 Aug; 44(8): 492–497. Published online 2007 May 11. doi: 10.1136/jmg.2007.050013

Correction in:: J Med Genet, volume 45 on page 64

PMCID:: PMC2597922

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Select item 18011806.

S Das, B Levinson, C Vulpe, S Whitney, J Gitschier, S Packman

Am J Hum Genet. 1995 Mar; 56(3): 570–576.

PMCID:: PMC1801180

Summary Page Browse PDF–1.4M Cite

Select item 12881887.

Lisbeth Birk Møller, Zeynep Tümer, Connie Lund, Carsten Petersen, Trevor Cole, Ralf Hanusch, Jürg Seidel, Lars Riff Jensen, Nina Horn

Am J Hum Genet. 2000 Apr; 66(4): 1211–1220. Published online 2000 Mar 17. doi: 10.1086/302857

PMCID:: PMC1288188

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Select item 12353138.

A Novel Frameshift Mutation in Exon 23 of ATP7A (MNK) Results in Occipital Horn Syndrome and Not in Menkes Disease

Susan L. Dagenais, Ayla N. Adam, Jeffrey W. Innis, Thomas W. Glover

Am J Hum Genet. 2001 Aug; 69(2): 420–427. Published online 2001 Jun 26. doi: 10.1086/321290

PMCID:: PMC1235313

Article PubReader PDF–328K Cite

Select item 95265259.

Working with alcohol prevention in occupational health services: “knowing how” is more important than “knowing that” – the WIRUS OHS study

Mikkel Magnus Thørrisen, Talieh Sadeghi, Tore Bonsaksen, Ian D. Graham, Randi Wågø Aas

Addict Sci Clin Pract. 2022; 17: 54. Published online 2022 Oct 1. doi: 10.1186/s13722-022-00335-0

PMCID:: PMC9526525

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Select item 935648110.

Do health professionals’ attitudes towards alcohol use matter for alcohol prevention efforts? Results from the WIRUS-OHS study

Tore Bonsaksen, Mikkel Magnus Thørrisen, Neda Hashemi, David Gimeno Ruiz de Porras, Randi Wågø Aas

BMC Health Serv Res. 2022; 22: 1004. Published online 2022 Aug 6. doi: 10.1186/s12913-022-08400-9

Correction in:: BMC Health Serv Res. 2022; 22: 1158.

PMCID:: PMC9356481

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Select item 887228611.

Exploring the Formation Mechanism of Unsafe Construction Behavior and Testing Efficient Occupational Health and Safety (OHS) Programs

Xun Liu, Xiaobo Li

Int J Environ Res Public Health. 2022 Feb; 19(4): 2090. Published online 2022 Feb 13. doi: 10.3390/ijerph19042090

PMCID:: PMC8872286

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Select item 874440612.

Moderating effect of OHS actions based on WHO recommendations to mitigate the effects of COVID-19 in multinational companies

Geraldo Cardoso de Oliveira Neto, Henrricco Nieves Pujol Tucci, Moacir Godinho Filho, Wagner Cezar Lucato, Dirceu da Silva

Process Saf Environ Prot. 2022 Mar; 159: 652–661. Published online 2022 Jan 10. doi: 10.1016/j.psep.2022.01.011

PMCID:: PMC8744406

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Select item 809789713.

Artificial intelligence and robotisation in the EU - should we change OHS law?

Maciej Jarota

J Occup Med Toxicol. 2021; 16: 18. Published online 2021 May 5. doi: 10.1186/s12995-021-00301-7

PMCID:: PMC8097897

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Select item 809704814.

Occipital Horn Syndrome as a Result of Splice Site Mutations in ATP7A. No Activity of ATP7A Splice Variants Missing Exon 10 or Exon 15

Lisbeth Birk Møller, Mie Mogensen, David D. Weaver, Per Amstrup Pedersen

Front Mol Neurosci. 2021; 14: 532291. Published online 2021 Apr 21. doi: 10.3389/fnmol.2021.532291

PMCID:: PMC8097048

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Select item 791036215.

Synthesis of chimera oligopeptide including furanoid β-sugar amino acid derivatives with free OHs: mild but successful removal of the 1,2-O-isopropylidene from the building block

Kim Hoang Yen Duong, Viktória Goldschmidt Gőz, István Pintér, András Perczel

Amino Acids. 2021; 53(2): 281–294. Published online 2021 Feb 9. doi: 10.1007/s00726-020-02923-3

PMCID:: PMC7910362

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Select item 750332016.

A Cumulative Risk Perspective for Occupational Health and Safety (OHS) Professionals

Richard Todd Niemeier, Pamela R.D. Williams, Alan Rossner, Jane E. Clougherty, Glenn E. Rice

Int J Environ Res Public Health. 2020 Sep; 17(17): 6342. Published online 2020 Aug 31. doi: 10.3390/ijerph17176342

PMCID:: PMC7503320

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Select item 739210017.

Activities of employers and OHS services during the developing COVID-19 epidemic in Poland

Krzysztof Nowacki, Sandra Grabowska, Karolina Łakomy

Saf Sci. 2020 Nov; 131: 104935. Published online 2020 Jul 30. doi: 10.1016/j.ssci.2020.104935

PMCID:: PMC7392100

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Select item 729662418.

Mapping analysis to predict EQ-5D-5 L utility values based on the Oxford Hip Score (OHS) and Oxford Knee Score (OKS) questionnaires in the Spanish population suffering from lower limb osteoarthritis

Jesús Martín-Fernández, Mariel Morey-Montalvo, Nuria Tomás-García, Elena Martín-Ramos, Juan Carlos Muñoz-García, Elena Polentinos-Castro, Gemma Rodríguez-Martínez, Juan Carlos Arenaza, Lidia García-Pérez, Laura Magdalena-Armas, Amaia Bilbao

Health Qual Life Outcomes. 2020; 18: 184. Published online 2020 Jun 15. doi: 10.1186/s12955-020-01435-8