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JCAHO preparation: an educational plan. [electronic resource] by
- Thompson, Elizabeth M
- Pool, Sarah
- Brown, Dianne
- Clark, James
- Ford, Donna
- Gillett, Craig
- Hansen, Judith
- Koehler, Suzanne
- Miller, Sandra
- Nadeau, Shelia
- Wilson, Kathy
- Zastrow, Sheri
Producer: 20080708
In:
Journal of continuing education in nursing vol. 39
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Functional performance in young Australian children with achondroplasia. [electronic resource] by
- Ireland, Penelope Jane
- McGill, James
- Zankl, Andreas
- Ware, Robert S
- Pacey, Verity
- Ault, Jenny
- Savarirayan, Ravi
- Sillence, David
- Thompson, Elizabeth M
- Townshend, Sharron
- Johnston, Leanne Marie
Producer: 20111031
In:
Developmental medicine and child neurology vol. 53
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Effects of MECP2 mutation type, location and X-inactivation in modulating Rett syndrome phenotype. [electronic resource] by
- Weaving, Linda S
- Williamson, Sarah L
- Bennetts, Bruce
- Davis, Mark
- Ellaway, Carolyn J
- Leonard, Helen
- Thong, Meow-Keong
- Delatycki, Martin
- Thompson, Elizabeth M
- Laing, Nigel
- Christodoulou, John
Producer: 20030724
In:
American journal of medical genetics. Part A vol. 118A
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Lung disease associated with periventricular nodular heterotopia and an FLNA mutation. [electronic resource] by
- Masurel-Paulet, Alice
- Haan, Eric
- Thompson, Elizabeth M
- Goizet, Cyril
- Thauvin-Robinet, Christel
- Tai, Andrew
- Kennedy, Declan
- Smith, Greg
- Khong, Teck Yee
- Solé, Guilhem
- Guerineau, Elodie
- Coupry, Isabelle
- Huet, Frédéric
- Robertson, Stephen
- Faivre, Laurence
Producer: 20110614
In:
European journal of medical genetics vol. 54
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Pedigree with frontotemporal lobar degeneration--motor neuron disease and Tar DNA binding protein-43 positive neuropathology: genetic linkage to chromosome 9. [electronic resource] by
- Luty, Agnes A
- Kwok, John B J
- Thompson, Elizabeth M
- Blumbergs, Peter
- Brooks, William S
- Loy, Clement T
- Dobson-Stone, Carol
- Panegyres, Peter K
- Hecker, Jane
- Nicholson, Garth A
- Halliday, Glenda M
- Schofield, Peter R
Producer: 20081202
In:
BMC neurology vol. 8
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Whole exome sequencing in foetal akinesia expands the genotype-phenotype spectrum of GBE1 glycogen storage disease mutations. [electronic resource] by
- Ravenscroft, Gianina
- Thompson, Elizabeth M
- Todd, Emily J
- Yau, Kyle S
- Kresoje, Nina
- Sivadorai, Padma
- Friend, Kathryn
- Riley, Kate
- Manton, Nicholas D
- Blumbergs, Peter
- Fietz, Michael
- Duff, Rachael M
- Davis, Mark R
- Allcock, Richard J
- Laing, Nigel G
Producer: 20130905
In:
Neuromuscular disorders : NMD vol. 23
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Unstable Robertsonian translocations der(13;15)(q10;q10): heritable chromosome fission without phenotypic effect in two kindreds. [electronic resource] by
- Perry, Jo
- White, Sue M
- Nouri, Sara
- Bain, Sharon M
- Hutchinson, Rhonda G
- La, Phung
- Northrop, Emma
- Eyre, Helen J
- Pertile, Mark D
- Hocking, Trudy A
- Thompson, Elizabeth M
- Yu, Sui
- Choo, K H Andy
- Slater, Howard R
Producer: 20050810
In:
American journal of medical genetics. Part A vol. 136
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Epilepsy with cognitive deficit and autism spectrum disorders: prospective diagnosis by array CGH. [electronic resource] by
- Nicholl, Jillian
- Waters, Wendy
- Suwalski, Shanna
- Brown, Sue
- Hull, Yvonne
- Harbord, Michael G
- Entwistle, John
- Thompson, Suzanna
- Clark, Damian
- Pridmore, Claire
- Haan, Eric
- Barnett, Christopher
- McGregor, Lesley
- Liebelt, Jan
- Thompson, Elizabeth M
- Friend, Kathryn
- Bain, Sharon M
- Yu, Sui
- Mulley, John C
Producer: 20130916
In:
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics vol. 162B
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Frontotemporal dementia-amyotrophic lateral sclerosis syndrome locus on chromosome 16p12.1-q12.2: genetic, clinical and neuropathological analysis. [electronic resource] by
- Dobson-Stone, Carol
- Luty, Agnes A
- Thompson, Elizabeth M
- Blumbergs, Peter
- Brooks, William S
- Short, Cathy L
- Field, Colin D
- Panegyres, Peter K
- Hecker, Jane
- Solski, Jennifer A
- Blair, Ian P
- Fullerton, Janice M
- Halliday, Glenda M
- Schofield, Peter R
- Kwok, John B J
Producer: 20130916
In:
Acta neuropathologica vol. 125
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C9ORF72 repeat expansion in Australian and Spanish frontotemporal dementia patients. [electronic resource] by
- Dobson-Stone, Carol
- Hallupp, Marianne
- Loy, Clement T
- Thompson, Elizabeth M
- Haan, Eric
- Sue, Carolyn M
- Panegyres, Peter K
- Razquin, Cristina
- Seijo-Martínez, Manuel
- Rene, Ramon
- Gascon, Jordi
- Campdelacreu, Jaume
- Schmoll, Birgit
- Volk, Alexander E
- Brooks, William S
- Schofield, Peter R
- Pastor, Pau
- Kwok, John B J
Producer: 20130823
In:
PloS one vol. 8
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Cognitive deficit and autism spectrum disorders: prospective diagnosis by array CGH. [electronic resource] by
- Nicholl, Jillian
- Waters, Wendy
- Mulley, John C
- Suwalski, Shanna
- Brown, Sue
- Hull, Yvonne
- Barnett, Christopher
- Haan, Eric
- Thompson, Elizabeth M
- Liebelt, Jan
- Mcgregor, Lesley
- Harbord, Michael G
- Entwistle, John
- Munt, Chris
- White, Dierdre
- Chitti, Anthony
- Baulderstone, David
- Ketteridge, David
- Friend, Kathryn
- Bain, Sharon M
- Yu, Sui
Producer: 20150511
In:
Pathology vol. 46
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Pathogenic mutations in GLI2 cause a specific phenotype that is distinct from holoprosencephaly. [electronic resource] by
- Bear, Kelly A
- Solomon, Benjamin D
- Antonini, Sonir
- Arnhold, Ivo J P
- França, Marcela M
- Gerkes, Erica H
- Grange, Dorothy K
- Hadley, Donald W
- Jääskeläinen, Jarmo
- Paulo, Sabrina S
- Rump, Patrick
- Stratakis, Constantine A
- Thompson, Elizabeth M
- Willis, Mary
- Winder, Thomas L
- Jorge, Alexander A L
- Roessler, Erich
- Muenke, Maximilian
Producer: 20150121
In:
Journal of medical genetics vol. 51
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Molecular consequences of dominant Bethlem myopathy collagen VI mutations. [electronic resource] by
- Baker, Naomi L
- Mörgelin, Matthias
- Pace, Rishika A
- Peat, Rachel A
- Adams, Naomi E
- Gardner, R J McKinlay
- Rowland, Lewis P
- Miller, Geoffrey
- De Jonghe, Peter
- Ceulemans, Berten
- Hannibal, Mark C
- Edwards, Matthew
- Thompson, Elizabeth M
- Jacobson, Richard
- Quinlivan, Ros C M
- Aftimos, Salim
- Kornberg, Andrew J
- North, Kathryn N
- Bateman, John F
- Lamandé, Shireen R
Producer: 20071217
In:
Annals of neurology vol. 62
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De novo mutations of SETBP1 cause Schinzel-Giedion syndrome. [electronic resource] by
- Hoischen, Alexander
- van Bon, Bregje W M
- Gilissen, Christian
- Arts, Peer
- van Lier, Bart
- Steehouwer, Marloes
- de Vries, Petra
- de Reuver, Rick
- Wieskamp, Nienke
- Mortier, Geert
- Devriendt, Koen
- Amorim, Marta Z
- Revencu, Nicole
- Kidd, Alexa
- Barbosa, Mafalda
- Turner, Anne
- Smith, Janine
- Oley, Christina
- Henderson, Alex
- Hayes, Ian M
- Thompson, Elizabeth M
- Brunner, Han G
- de Vries, Bert B A
- Veltman, Joris A
Producer: 20100617
In:
Nature genetics vol. 42
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Vascular and connective tissue anomalies associated with X-linked periventricular heterotopia due to mutations in Filamin A. [electronic resource] by
- Reinstein, Eyal
- Frentz, Sophia
- Morgan, Tim
- García-Miñaúr, Sixto
- Leventer, Richard J
- McGillivray, George
- Pariani, Mitchel
- van der Steen, Anthony
- Pope, Michael
- Holder-Espinasse, Muriel
- Scott, Richard
- Thompson, Elizabeth M
- Robertson, Terry
- Coppin, Brian
- Siegel, Robert
- Bret Zurita, Montserrat
- Rodríguez, Jose I
- Morales, Carmen
- Rodrigues, Yuri
- Arcas, Joaquín
- Saggar, Anand
- Horton, Margaret
- Zackai, Elaine
- Graham, John M
- Rimoin, David L
- Robertson, Stephen P
Producer: 20131017
In:
European journal of human genetics : EJHG vol. 21
Availability: No items available.
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