Lachlan, Katherine L.: search on Z-Library

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1

Major hazard risk assessment for existing and new facilities

Katherine (Kate) Filippin, Lachlan Dreher

Journal:

Process Safety Progress

Year:

2004

Language:

english

File:

PDF, 104 KB

english, 2004

2

Self-perceived burden in chronic pain: Relevance, prevalence, and predictors

John Kowal, Keith G. Wilson, Lachlan A. McWilliams, Katherine Péloquin, David Duong

Journal:

Year:

2012

Language:

english

File:

PDF, 176 KB

english, 2012

3

Heterozygous lamin B1 and lamin B2 variants cause primary microcephaly and define a novel laminopathy

Parry, David A., Martin, Carol-Anne, Greene, Philip, Marsh, Joseph A., Blyth, Moira, Cox, Helen, Donnelly, Deirdre, Greenhalgh, Lynn, Greville-Heygate, Stephanie, Harrison, Victoria, Lachlan, Katherin

Journal:

Genetics in Medicine

Year:

2020

File:

PDF, 4.90 MB

2020

4

Refining the Primrose syndrome phenotype: A study of five patients with ZBTB20 de novo variants and a review of the literature

Cleaver, Ruth, Berg, Jonathan, Craft, Emily, Foster, Alison, Gibbons, Richard J., Hobson, Emma, Lachlan, Katherine, Naik, Swati, Sampson, Julian R., Sharif, Saba, Smithson, Sarah, Parker, Michael J.,

Journal:

American Journal of Medical Genetics Part A

Year:

2019

Language:

english

File:

PDF, 1.08 MB

english, 2019

5

Kabuki syndrome: new ocular findings but no evidence of 8p22-p23.1 duplications in a clinically defined cohort

Turner, Claire, Lachlan, Katherine, Amerasinghe, Nishani, Hodgkins, Peter, Maloney, Viv, Barber, John, Temple, I Karen

Journal:

European Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 146 KB

english, 2005

6

Attachment insecurity predicts responses to an interdisciplinary chronic pain rehabilitation program

Kowal, John, McWilliams, Lachlan A., Péloquin, Katherine, Wilson, Keith G., Henderson, Peter R., Fergusson, Dean A.

Journal:

Journal of Behavioral Medicine

Year:

2015

Language:

english

File:

PDF, 237 KB

english, 2015

7

One single large intramuscular dose of naloxone is effective and safe in suspected heroin poisoning

Harris, Keith, Page, Colin B, Samantray, Sikta, Parker, Lachlan, Brier, Andrew JA, Isoardi, Katherine Z

Journal:

Emergency Medicine Australasia

Year:

2019

Language:

english

File:

PDF, 220 KB

english, 2019

8

Haematological Chimerism Masquerading as Disorder of Sex Development

Sakka, Sophia D, Mann, Kathy, Lachlan, Katherine, Davies, Justin H, Bateman, Mark, Holder‐Espinasse, Muriel, Arya, Ved Bhushan

Journal:

Clinical Endocrinology

Year:

2020

Language:

english

File:

PDF, 957 KB

english, 2020

9

Cemented Versus Uncemented Surface Replacement Arthroplasty of the Proximal Interphalangeal Joint With a Mean 5-Year Follow-Up

Bruce R. Johnstone, Megan Fitzgerald, Katherine R. Smith, Lachlan J. Currie

Journal:

The Journal of Hand Surgery: British & European Volume

Year:

2008

Language:

english

File:

PDF, 316 KB

english, 2008

10

Effects of neonatal enzyme replacement therapy and simvastatin treatment on cervical spine disease in mucopolysaccharidosis type I dogs

Smith, Lachlan J., Chiaro, Joseph A., O'Donnell, Patricia, Malhotra, Neil R., Shore, Eileen M., Ponder, Katherine P., Haskins, Mark E.

Journal:

Molecular Genetics and Metabolism

Year:

2014

Language:

english

File:

PDF, 202 KB

english, 2014

11

Large Animal Models of Lysosomal Storage Diseases: Lessons on the Limits of Gene/Enzyme Therapy

Mark Haskins, Meg Sleeper, Gus Aguirre, Steven U. Walkley, Van Knox, Charles Vite, Richard Steet, Brittney Gurda, Jim Wilson, Alberto Auricchio, Lachlan Smith, Lilla Simonaro, Katherine Ponder

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 65 KB

english, 2012

12

A Prospective Study of the Safety and Effectiveness of Droperidol in Children for Prehospital Acute Behavioural Disturbance

Page, Colin B., Parker, Lachlan E., Rashford, Stephen J., Isoardi, Katherine Z., Isbister, Geoffrey K.

Journal:

Prehospital Emergency Care

Year:

2018

Language:

english

File:

PDF, 899 KB

english, 2018

13

Phenotypic heterogeneity in the XPB DNA helicase gene (ERCC3): xeroderma pigmentosum without and with Cockayne syndrome

Kyu-Seon Oh, Sikandar G. Khan, N.G.J. Jaspers, Anja Raams, Takahiro Ueda, Alan Lehmann, Peter S. Friedmann, Steffen Emmert, Alexi Gratchev, Katherine Lachlan, Anneke Lucassan, Carl C. Baker, Kenneth H

Journal:

Year:

2006

Language:

english

File:

PDF, 417 KB

english, 2006

14

AMMECR1 : a single point mutation causes developmental delay, midface hypoplasia and elliptocytosis

Andreoletti, Gaia, Seaby, Eleanor G, Dewing, Jennifer M, O'Kelly, Ita, Lachlan, Katherine, Gilbert, Rodney D, Ennis, Sarah

Journal:

Journal of Medical Genetics

Year:

2017

Language:

english

File:

PDF, 1.02 MB

english, 2017

15

Null variants and deletions in BRWD3 cause an X-linked syndrome of mild-moderate intellectual disability, macrocephaly, and obesity: A series of 17 patients

Ostrowski, Philip J., Zachariou, Anna, Loveday, Chey, Baralle, Diana, Blair, Edward, Douzgou, Sofia, Field, Michael, Foster, Alison, Kyle, Claire, Lachlan, Katherine, Mansour, Sahar, Naik, Swati, Rea,

Journal:

American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Year:

2019

Language:

english

File:

PDF, 3.24 MB

english, 2019

16

Reliable Genotypic Tropism Tests for the Major HIV-1 Subtypes

Cashin, Kieran, Gray, Lachlan R., Harvey, Katherine L., Perez-Bercoff, Danielle, Lee, Guinevere Q., Sterjovski, Jasminka, Roche, Michael, Demarest, James F., Drummond, Fraser, Harrigan, P. Richard, Ch

Journal:

Scientific Reports

Year:

2015

Language:

english

File:

PDF, 462 KB

english, 2015

17

De novo, heterozygous, loss-of-function mutations in SYNGAP1 cause a syndromic form of intellectual disability

Parker, Michael J., Fryer, Alan E., Shears, Deborah J., Lachlan, Katherine L., McKee, Shane A., Magee, Alex C., Mohammed, Shehla, Vasudevan, Pradeep C., Park, Soo-Mi, Benoit, Valérie, Lederer, Damien,

Journal:

American Journal of Medical Genetics Part A

Year:

2015

File:

PDF, 948 KB

2015

18

Postnatal progression of bone disease in the cervical spines of mucopolysaccharidosis I dogs

Chiaro, Joseph A., Baron, Matthew D., del Alcazar, Chelsea M., O'Donnell, Patricia, Shore, Eileen M., Elliott, Dawn M., Ponder, Katherine P., Haskins, Mark E., Smith, Lachlan J.

Journal:

Year:

2013

Language:

english

File:

PDF, 1.38 MB

english, 2013

19

Amniotic bands in paternal half-siblings

Blyth, Moira, Lachlan, Katherine

Journal:

Clinical Dysmorphology

Year:

2010

Language:

english

File:

PDF, 139 KB

english, 2010

20

Breakpoint mapping and haplotype analysis of three reciprocal translocations identify a novel recurrent translocation in two unrelated families: t(4;11)(p16.2;p15.4)

N. Simon Thomas, Viv Maloney, Victoria Bryant, Shuwen Huang, Carole Brewer, Katherine Lachlan, Patricia A. Jacobs

Journal:

Year:

2009

Language:

english

File:

PDF, 393 KB

english, 2009

21

New insights into thyroglobulin gene: Molecular analysis of seven novel mutations associated with goiter and hypothyroidism

Citterio, Cintia E., Machiavelli, Gloria A., Miras, Mirta B., Gruñeiro-Papendieck, Laura, Lachlan, Katherine, Sobrero, Gabriela, Chiesa, Ana, Walker, Joanna, Muñoz, Liliana, Testa, Graciela, Belforte,

Journal:

Molecular and Cellular Endocrinology

Year:

2013

Language:

english

File:

PDF, 3.70 MB

english, 2013

22

Erratum to: Bilineal inheritance ofPKD1abnormalities mimicking autosomal recessive polycystic disease

Gilbert, Rodney D., Sukhtankar, Priya, Lachlan, Katherine, Fowler, Darren J.

Journal:

Pediatric Nephrology

Year:

2013

Language:

english

File:

PDF, 48 KB

english, 2013

23

A Prospective Before and After Study of Droperidol for Prehospital Acute Behavioral Disturbance

Page, Colin B., Parker, Lachlan E., Rashford, Stephen J., Bosley, Emma, Isoardi, Katherine Z., Williamson, Frances E., Isbister, Geoffrey K.

Journal:

Prehospital Emergency Care

Year:

2018

Language:

english

File:

PDF, 762 KB

english, 2018

24

Prospective study of the safety and effectiveness of droperidol in elderly patients for pre-hospital acute behavioural disturbance

Page, Colin B, Parker, Lachlan E, Rashford, Stephen J, Kulawickrama, Sanjeewa, Isoardi, Katherine Z, Isbister, Geoffrey K

Journal:

Emergency Medicine Australasia

Year:

2020

File:

PDF, 407 KB

2020

25

King–Denborough syndrome with and without mutations in the skeletal muscle ryanodine receptor (RYR1) gene

James J. Dowling, Suzanne Lillis, Kimberley Amburgey, Haiyan Zhou, Safa Al-Sarraj, Stefan J.A. Buk, Elizabeth Wraige, Gabby Chow, Stephen Abbs, Steven Leber, Katherine Lachlan, Diana Baralle, Alexandr

Journal:

Neuromuscular Disorders

Year:

2011

Language:

english

File:

PDF, 714 KB

english, 2011

26

PTEN mutations as a cause of constitutive insulin sensitivity and obesity in human beings

Pal, Aparna, Barber, Thomas M, Van de Bunt, Martijn, Rudge, Simon A, Zhang, Qifeng, Lachlan, Katherine L, Cooper, Nicola S, Linden, Helen, Levy, Jonathan C, Wakelam, Michael JO, Walker, Lisa, Karpe, F

Journal:

Year:

2013

Language:

english

File:

PDF, 43 KB

english, 2013

27

Nablus mask-like facial syndrome: Deletion of chromosome 8q22.1 is necessary but not sufficient to cause the phenotype

Judith Allanson, Amanda Smith, Heather Hare, Beate Albrecht, Emilia Bijlsma, Bruno Dallapiccola, Emilio Donti, David Fitzpatrick, Bertrand Isidor, Katherine Lachlan, Cedric Le Caignec, Paolo Prontera,

Journal:

American Journal of Medical Genetics Part A

Year:

2012

Language:

english

File:

PDF, 344 KB

english, 2012

28

Hypoxic regulation of functional extracellular matrix elaboration by nucleus pulposus cells in long-term agarose culture

Gorth, Deborah J, Lothstein, Katherine E, Chiaro, Joseph A, Farrell, Megan J, Dodge, George R, Elliott, Dawn M, Malhotra, Neil R, Mauck, Robert L, Smith, Lachlan J

Journal:

Journal of Orthopaedic Research

Year:

2015

Language:

english

File:

PDF, 2.86 MB

english, 2015

29

Medical scribes have no impact on the patient experience of an emergency department

Dunlop, William, Hegarty, Lachlan, Staples, Margaret, Levinson, Michele, Ben-Meir, Michael, Walker, Katherine

Journal:

Emergency Medicine Australasia

Year:

2017

Language:

english

File:

PDF, 269 KB

english, 2017

30

Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data

Aitken, Stuart, Firth, Helen V., McRae, Jeremy, Halachev, Mihail, Kini, Usha, Parker, Michael J., Lees, Melissa M., Lachlan, Katherine, Sarkar, Ajoy, Joss, Shelagh, Splitt, Miranda, McKee, Shane, Néme

Journal:

The American Journal of Human Genetics

Year:

2019

File:

PDF, 1.98 MB

2019

31

MLKL trafficking and accumulation at the plasma membrane control the kinetics and threshold for necroptosis

Samson, Andre L., Zhang, Ying, Geoghegan, Niall D., Gavin, Xavier J., Davies, Katherine A., Mlodzianoski, Michael J., Whitehead, Lachlan W., Frank, Daniel, Garnish, Sarah E., Fitzgibbon, Cheree, Hempe

Journal:

Nature Communications

Year:

2020

File:

PDF, 6.91 MB

2020

32

One single large intramuscular dose of naloxone is effective and safe in suspected heroin poisoning

Harris, Keith, Page, Colin B, Samantray, Sikta, Parker, Lachlan, Brier, Andrew JA, Isoardi, Katherine Z

Journal:

Emergency Medicine Australasia

Year:

2019

File:

PDF, 220 KB

2019

33

Clinical and radiographic delineation of odontochondrodysplasia

Sheila Unger, Franco Antoniazzi, Milena Brugnara, Yasemin Alanay, Ahmet Caglayan, Katherine Lachlan, Shiro Ikegawa, Gen Nishimura, Bernhard Zabel, Jürgen Spranger, Andrea Superti-Furga

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 343 KB

english, 2008

34

Chronic pain and the interpersonal theory of suicide.

Wilson, Keith G., Kowal, John, Henderson, Peter R., McWilliams, Lachlan A., Péloquin, Katherine

Journal:

Rehabilitation Psychology

Year:

2013

Language:

english

File:

PDF, 289 KB

english, 2013

35

K etamine as a rescue treatment for severe acute behavioural disturbance : A prospective prehospital study

Isoardi, Katherine Z, Parker, Lachlan E, Page, Colin B, Humphreys, Michael A, Harris, Keith, Rashford, Stephen, Isbister, Geoffrey K

Journal:

Emergency Medicine Australasia

Year:

2020

File:

PDF, 196 KB

2020

36

Detailed clinical and molecular study of 20 females with Xq deletions with special reference to menstruation and fertility

Mercer, Catherine L., Lachlan, Katherine, Karcanias, Alexandra, Affara, Nabeel, Huang, Shuwen, Jacobs, Patricia A., Thomas, N. Simon

Journal:

European Journal of Medical Genetics

Year:

2013

Language:

english

File:

PDF, 270 KB

english, 2013

37

Bilineal inheritance ofPKD1abnormalities mimicking autosomal recessive polycystic disease

Rodney D. Gilbert, Priya Sukhtankar, Katherine Lachlan…

Journal:

Pediatric Nephrology

Year:

2013

Language:

english

File:

PDF, 190 KB

english, 2013

38

Gene-specific criteria for PTEN variant curation: Recommendations from the ClinGen PTEN Expert Panel

Mester, Jessica L., Ghosh, Rajarshi, Pesaran, Tina, Huether, Robert, Karam, Rachid, Hruska, Kathleen S., Costa, Helio A., Lachlan, Katherine, Ngeow, Joanne, Barnholtz-Sloan, Jill, Sesock, Kaitlin, Her

Journal:

Year:

2018

Language:

english

File:

PDF, 353 KB

english, 2018

39

PTEN Hamartoma tumor syndrome in childhood: A review of the clinical literature

Macken, William L., Tischkowitz, Marc, Lachlan, Katherine L.

Journal:

American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Year:

2019

File:

PDF, 2.94 MB

2019

40

PTEN Hamartoma tumor syndrome in childhood: A review of the clinical literature

Macken, William L., Tischkowitz, Marc, Lachlan, Katherine L.

Journal:

American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Year:

2019

Language:

english

File:

PDF, 2.94 MB

english, 2019

41

Clinical features and molecular analysis of seven British kindreds with hereditary hyperferritinaemia cataract syndrome

Lachlan, Katherine L, Karen Temple, I, Mumford, Andrew D

Journal:

European Journal of Human Genetics

Year:

2004

Language:

english

File:

PDF, 145 KB

english, 2004

42

Brandishing Guns in American Media: Two Studies Examining How Often and in What Context Firearms Appear on Television and in Popular Video Games

Smith, Stacy L., Lachlan, Ken, Pieper, Katherine M., Boyson, Aaron R., Wilson, Barbara J., Tamborini, Ron, Weber, Rene

Journal:

Journal of Broadcasting & Electronic Media

Year:

2004

Language:

english

File:

PDF, 1.20 MB

english, 2004

43

Inside the 8p23.1 duplication syndrome; eight microduplications of likely or uncertain clinical significance

Barber, John C. K., Rosenfeld, Jill A., Graham, John M., Kramer, Nancy, Lachlan, Katherine L., Bateman, Mark S., Collinson, Morag N., Stadheim, Barbro Fossøy, Turner, Claire L. S., Gauthier, Jacquelin

Journal:

American Journal of Medical Genetics Part A

Year:

2015

Language:

english

File:

PDF, 794 KB

english, 2015

44

Incomplete penetrance, variable expressivity, or dosage insensitivity in four families with directly transmitted unbalanced chromosome abnormalities

Bateman, Mark S., Collinson, Morag N., Bunyan, David J., Collins, Amanda L., Duncan, Philippa, Firth, Rachel, Harrison, Victoria, Homfray, Tessa, Huang, Shuwen, Kirk, Beth, Lachlan, Katherine L., Malo

Journal:

American Journal of Medical Genetics Part A

Year:

2017

Language:

english

File:

PDF, 1.49 MB

english, 2017

45

Functional disomy resulting from duplications of distal Xq in four unrelated patients

Katherine L. Lachlan, Morag N. Collinson, Richard O. C. Sandford, Berendine van Zyl, Patricia A. Jacobs, N. Simon Thomas

Journal:

Year:

2004

Language:

english

File:

PDF, 246 KB

english, 2004

46

Altered lumbar spine structure, biochemistry, and biomechanical properties in a canine model of mucopolysaccharidosis type VII

Lachlan J. Smith, John T. Martin, Spencer E. Szczesny, Katherine P. Ponder, Mark E. Haskins, Dawn M. Elliott

Journal:

Journal of Orthopaedic Research

Year:

2010

Language:

english

File:

PDF, 828 KB

english, 2010

47

Effects of Neonatal Enzyme Replacement Therapy and Simvastatin Treatment on Cervical Spine Disease in Mucopolysaccharidosis I Dogs

Chiaro, Joseph A, O'Donnell, Patricia, Shore, Eileen M, Malhotra, Neil R, Ponder, Katherine P, Haskins, Mark E, Smith, Lachlan J

Journal:

Journal of Bone and Mineral Research

Year:

2014

Language:

english

File:

PDF, 1.53 MB

english, 2014

48

De novo, heterozygous, loss-of-function mutations in SYNGAP1 cause a syndromic form of intellectual disability

Parker, Michael J., Fryer, Alan E., Shears, Deborah J., Lachlan, Katherine L., McKee, Shane A., Magee, Alex C., Mohammed, Shehla, Vasudevan, Pradeep C., Park, Soo-Mi, Benoit, Valérie, Lederer, Damien,

Journal:

American Journal of Medical Genetics Part A

Year:

2015

Language:

english

File:

PDF, 948 KB

english, 2015

49

PTEN Mutations as a Cause of Constitutive Insulin Sensitivity and Obesity

Pal, Aparna, Barber, Thomas M., Van de Bunt, Martijn, Rudge, Simon A., Zhang, Qifeng, Lachlan, Katherine L., Cooper, Nicola S., Linden, Helen, Levy, Jonathan C., Wakelam, Michael J.O., Walker, Lisa, K

Journal:

New England Journal of Medicine

Year:

2012

Language:

english

File:

PDF, 1.22 MB

english, 2012

50

1p13.2 deletion displays clinical features overlapping Noonan syndrome, likely related to NRAS gene haploinsufficiency

Linhares, Natália Duarte, Freire, Maíra Cristina Menezes, Cardenas, Raony Guimarães Corrêa do Carmo Lisboa, Pena, Heloisa Barbosa, Lachlan, Katherine, Dallapiccola, Bruno, Bacino, Carlos, Delobel, Bru

Journal:

Genetics and Molecular Biology

Year:

2016

Language:

english

File:

PDF, 4.60 MB

english, 2016

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