consanguinity

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1
De-novo KMT2B mutation in a consanguineous family: 15-Year follow-up of an Afghan dystonia patient.
Klein, Christine;Baumann, Hauke;Olschewski, Luisa;Hanssen, Henrike;Münchau, Alexander;Ferbert, Andre...
2019 parkinsonism & related disorders DOI: S1353-8020(19)30111-... 230 views
2
Primary hyperoxaluria in populations of Pakistan origin: results from a literature review and two major registries.
Talati, Jamsheer Jehangir;Hulton, Sally-Anne;Garrelfs, Sander F;Aziz, Wajahat;Rao, Shoaib;Memon, Ama...
2018 urolithiasis DOI: 10.1007/s00240-017-0... 289 views
3
Mitochondrial function and lifespan of mice with controlled ubiquinone biosynthesis.
Wang, Ying;Oxer, Daniella;Hekimi, Siegfried;
2015 Nature communications DOI: 10.1038/ncomms7393 249 views
4
Hoof accelerations at hoof-surface impact for stride types and functional limb types relevant to show jumping horses.
Hernlund, Elin;Egenvall, Agneta;Peterson, Michael L;Mahaffey, Christie A;Roepstorff, Lars;
2013 veterinary journal (london, england : 1997) 287 views
5
Effect of adrenaline on survival in out-of-hospital cardiac arrest: A randomised double-blind placebo-controlled trial.
Jacobs, Ian G;Finn, Judith C;Jelinek, George A;Oxer, Harry F;Thompson, Peter L;
2011 Resuscitation DOI: 10.1016/j.resuscitat... 287 views
6
PPARγ expression is increased in systemic lupus erythematosus patients and represses CD40/CD40L signaling pathway.
Oxer, D S;Godoy, L C;Borba, E;Lima-Salgado, T;Passos, L A;Laurindo, I;Kubo, S;Barbeiro, D F;Fernande...
2011 lupus DOI: 10.1177/096120331039... 296 views
7
Loss of CD40 endogenous S-nitrosylation during inflammatory response in endotoxemic mice and patients with sepsis.
Godoy, Luiz C;Moretti, Ana I;Jurado, Marcia C;Oxer, Daniella;Janiszewski, Mariano;Ckless, Karina;Vel...
2010 shock (augusta, ga) DOI: 10.1097/SHK.0b013e31... 287 views
8
Methoxyflurane as an analgesic for prehospital use at high altitude.
Windsor, Jeremy;van der Kaaij, Jildou;Ellerton, John;Oxer, Harry;Hillebrandt, David;Rodway, George;
2009 high altitude medicine & biology DOI: 10.1089/ham.2008.107... 253 views
9
Weighted boots influence performance in show-jumping horses.
Murphy, Jack;
2009 veterinary journal (london, england : 1997) DOI: 10.1016/j.tvjl.2009.... 255 views
10
Identification of novel peptide agonists from a random peptide library for a 5-oxo-ETE receptor, a receptor for bioactive lipids.
Sasaki, Yoshinori;Tsujii, Takashi;Takeda, Shigeki;Obinata, Hideru;Izumi, Takashi;Yamada, Keiichi;Kat...
2008 journal of peptide science : an official publicati... DOI: 10.1002/psc.1064 263 views
11
CPR before defibrillation in out-of-hospital cardiac arrest: a randomized trial.
Jacobs, Ian G;Finn, Judith C;Oxer, Harry F;Jelinek, George A;
2005 emergency medicine australasia : ema 257 views
12
Outcomes of out-of-hospital cardiac arrest patients in Perth, Western Australia, 1996-1999.
Finn, J C;Jacobs, I G;Holman, C D;Oxer, H F;
2001 Resuscitation 262 views
13
Simply add oxygen: why isn't oxygen administration taught in all resuscitation training?
Oxer, H F;
2000 Resuscitation 251 views
14
Unusual causes of convulsions in a hyperbaric chamber.
Emerson, G M;Oxer, H F;
1998 undersea & hyperbaric medicine : journal of the un... 232 views
15
Automated management of gene discovery projects.
Taylor, S;Hodgman, T C;Littler, C B;Sayle, R A;Gill, R W;Oxer, M D;O'Donnell, C H;Lyall, A;
1998 Bioinformatics 255 views
16
A new dynamic tool to perform assembly of expressed sequence tags (ESTs).
Gill, R W;Hodgman, T C;Littler, C B;Oxer, M D;Montgomery, D S;Taylor, S;Sanseau, P;
1997 computer applications in the biosciences : cabios 247 views
17
Hyperbaric oxygen treatment for radiation proctitis.
Woo, T C;Joseph, D;Oxer, H;
1997 international journal of radiation oncology, biolo... 196 views
18
Molecular characterization and localization of human metabotropic glutamate receptor type 4.
Makoff, A;Lelchuk, R;Oxer, M;Harrington, K;Emson, P;
1996 brain research molecular brain research 236 views
19
Ultrasonographic features of recurrent parotitis in childhood.
Nolasco, A M;Oxer, S A;
1995 Pediatric Radiology 250 views
20
primary ciliary dyskinesia: kartagener syndrome in a family with a novel dnah5 gene mutation and variable phenotypes
;Makia J. Marafie;Ibrahim S. Al Suliman;Abdullah M. Redha;Abdulrahman M. Alshati
2015 structural engineering international DOI: 10.1016/j.ejmhg.2014... 165 views

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gene expression dyscalculia de-novo mutation generalized dystonia kmt2b end-stage renal disease oxalosis primary hyperoxaluria mutation analysis oxalate crystals oxalate stones pakistan origin