Results 21 to 30 of about 308,307 (292)

Autism genetics: searching for specificity and convergence. [PDF]

, 2012
Advances in genetics and genomics have improved our understanding of autism spectrum disorders. As many genes have been implicated, we look to points of convergence among these genes across biological systems to better understand and treat these ...
Berg, Jamee M, Geschwind, Daniel H
core   +1 more source

Ataxia in children: early recognition and clinical evaluation [PDF]

, 2017
Background: Ataxia is a sign of different disorders involving any level of the nervous system and consisting of impaired coordination of movement and balance.
Falsaperla, Raffaele, Lubrano, Riccardo, Pavone, Piero, Pavone, Vito, Praticò, Andrea D., Rizzo, Renata, Ruggieri, Martino   +6 more
core   +1 more source

Extending inherited metabolic disorder diagnostics with biomarker interaction visualizations

Orphanet Journal of Rare Diseases, 2023
Background Inherited Metabolic Disorders (IMDs) are rare diseases where one impaired protein leads to a cascade of changes in the adjacent chemical conversions.
Denise N. Slenter, Irene M. G. M. Hemel, Chris T. Evelo, Jörgen Bierau, Egon L. Willighagen, Laura K. M. Steinbusch   +5 more
doaj   +1 more source

Inherited Hyperuricemic Disorders [PDF]

, 2004
Inherited hyperuricemic disorders fall into two major classes, metabolic overproduction of purines and renal tubular undersecretion. The aim was to explore both. Methodology was a combination of personal experience and review of relevant literature.
openaire   +3 more sources

Demography and disorders of German Shepherd Dogs under primary veterinarycare in the UK [PDF]

, 2017
The German Shepherd Dog (GSD) has been widely used for a variety of working roles. However, concerns for the health and welfare of the GSD have been widely aired and there is evidence that breed numbers are now in decline in the UK.
A Agresti, A Egenvall, A Gough, A Kathrani, A Kyriazis, A Peiravan, AJ German, AK Hielm-Björkman, AL Holder, AR Michell, BR Kirkwood, C Kraus, C Selman, CE Griffin, D Clements, D O'Neill, DG O'Neill, DG O'Neill, DG O'Neill, DJ Batchelor, E O'Sullivan, E Sturaro, E Westermarck, EL Buckland, EM Lund, EM Lund, F Galis, G Diesel, GJ Patronek, GK Smith, H Abdi, HE Salvin, J Fatjo, J Summers, JF Summers, JM Dobson, JM Fleming, JM Wahl, JMR Cornelissen, JP Genevois, K Svartberg, K Svartberg, KA Gershman, KA Greer, KE Bergvall, KL Overall, L Asher, L Asher, LJ Kennedy, LM Collins, LM Collins, M Downes, M Petazzoni, MI Benninger, N Ondreka, N Pearce, N Rooney, NJ Robinson, NJ Rooney, P Bateson, P Saetre, P Sandøe, R Packer, R Zeng, RMA Packer, S Breit, SR Urfer, TH Witsberger, VJ Adams, Å Vilson   +69 more
core   +1 more source

Prevalence of Disorders Recorded in Dogs Attending Primary-Care Veterinary Practices in England [PDF]

, 2014
Purebred dog health is thought to be compromised by an increasing occurence of inherited diseases but inadequate prevalence data on common disorders have hampered efforts to prioritise health reforms. Analysis of primary veterinary practice clinical data
A Agresti, A Egenvall, A Egenvall, A Egenvall, A Egenvall, A Hillier, A Kathrani, A Neuber, AB Stone, AJ German, AJ German, AM Lourenço-Martins, B Wilson, BN Bonnett, C Albuquerque, C Mellersh, Cheryl S. Rosenfeld, CL Aragon, Dan G. O′Neill, Dave C. Brodbelt, David B. Church, DD Sleator, DN Irion, DR Ownby, E Friedmann, EM Lund, F Walsh, FC Calboli, FD McMillan, FJD Smith, G Chodick, G Dank, G Leroy, GC Knight, GM Gobar, GP Page, H Soll-Johanning, HD Pedersen, HE Hein, J Virués-Ortega, JE Houlton, JF Summers, JI Hudson, JK Murray, JLN Wood, JM Fleming, JS Rand, KD Mandl, L Asher, L Asher, L Kearsley-Fleet, LM Collins, LM Collins, M Aickin, MB Willis, MK Rust, MP Starkey, MR Slater, MW Neff, MY Powers, N Pearce, NJ Rooney, NJ Rooney, P Froom, P Royston, Paul D. McGreevy, PC Bartlett, PD McGreevy, PD McGreevy, Peter C. Thomson, PM Mountziaris, R Bender, R Feise, R Marsella, R Medzhitov, RM Batt, RMA Packer, S Brady, S Crispin, S Greenland, S Platt, SFJ Hodgman, T Lewis, T Lewis, TP Bellumori, TW Lewis, U John, VJ Adams, WB Lober, Å Vilson   +89 more
core   +3 more sources

Nutritional status of young children with inherited blood disorders in western Kenya. [PDF]

, 2014
To determine the association between a range of inherited blood disorders and indicators of poor nutrition, we analyzed data from a population-based, cross-sectional survey of 882 children 6–35 months of age in western Kenya.
Ruth, LJ, Suchdev, PS, Sullivan, KM, Tsang, BL, Williams, TN   +4 more
core   +1 more source

HOW FREQUENT ARE CONSANGUINEOUS MARRIAGES?

Journal of the Dow University of Health Sciences, 2008
Objective: To determine the frequency of consanguineous marriages in parents and grand parents of alladmitted children in a pediatric unit Design: An observational study.
D. S. Akram, Fehmina Arif, Jabeen Fayyaz
doaj   +4 more sources

Congenital disorders in the cattle population of the Czech Republic

Czech Journal of Animal Science, 2009
The aim of the paper was to analyse congenital disorders in the Czech cattle population in 1986-2001. The offspring of 474 sires - 215 Czech Simmental, 236 Holstein, and 23 beef - were diagnosed with congenital disorders which were unevenly distributed ...
J. Čítek, V. Řehout, J. Hájková
doaj   +1 more source

Longevity and mortality of cats attending primary care veterinary practices in England [PDF]

, 2014
Enhanced knowledge on longevity and mortality in cats should support improved breeding, husbandry, clinical care and disease prevention strategies. The VetCompass research database of primary care veterinary practice data offers an extensive resource of ...
Bessant C, Dohoo I, Elliott J, Gough A, Kirkwood BR, Lulich J, McGreevy PD, McGreevy PD, Nicholas FW, Rochlitz I, Rollin BE, VetCompass   +11 more
core   +3 more sources