J. McGaughran: search on Z-Library

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1

Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome

May Tassabehji, Zhi Ming Fang, Emma N. Hilton, Julie McGaughran, Zhongming Zhao, Charles E. de Bock, Emma Howard, Michael Malass, Dian Donnai, Ashish Diwan, Forbes D.C. Manson, Dédée Murrell, Raymond

Journal:

Year:

2008

Language:

english

File:

PDF, 602 KB

english, 2008

2

Sebaceous adenoma arising within an ovarian mature cystic teratoma in Muir-Torre syndrome

Jason Smith, Karen Crowe, Julie McGaughran, Thomas Robertson

Journal:

Annals of Diagnostic Pathology

Year:

2012

Language:

english

File:

PDF, 972 KB

english, 2012

3

Phylogeographic structure suggests multiple glacial refugia in northern Victoria Land for the endemic Antarctic springtail Desoria klovstadi (Collembola, Isotomidae)

Mark I. Stevens, Francesco Frati, Angela McGaughran, Giacomo Spinsanti, Ian D. Hogg

Journal:

Zoologica Scripta

Year:

2007

Language:

english

File:

PDF, 435 KB

english, 2007

4

Elements of morphology: Standard terminology for the head and face

Judith E. Allanson, Christopher Cunniff, H. Eugene Hoyme, Julie McGaughran, Max Muenke, Giovanni Neri

Journal:

American Journal of Medical Genetics Part A

Year:

2009

Language:

english

File:

PDF, 1.56 MB

english, 2009

5

THE USE OF DEMOGRAPHIC CHARACTERISTICS IN PREDICTING RESPONSE TO HOSPITALIZATION FOR TUBERCULOSIS.

Moran, Louis J., Fairweather, George W., Morton, Robert B., McGaughran, Laurence S.

Journal:

Journal of Consulting Psychology

Year:

1955

Language:

english

File:

PDF, 486 KB

english, 1955

6

Trisomy of 3pter in a patient with apparent C (trigonocephaly) syndrome

Julie McGaughran, Salim Aftimos, Paul Oei

Journal:

American Journal of Medical Genetics Part A

Year:

2000

Language:

english

File:

PDF, 245 KB

english, 2000

7

Filing KBr Pellets

McGaughran, W. R.

Journal:

Applied Spectroscopy

Year:

1956

File:

PDF, 21 KB

1956

8

350 A retrospective study of cancer in Australian and New Zealand cystic fibrosis (CF) patients

J. McGaughran, S.C. Bell, J. Wilson

Journal:

Journal of Cystic Fibrosis

Year:

2012

Language:

english

File:

PDF, 58 KB

english, 2012

9

Clinical predictors of genetic testing outcomes in hypertrophic cardiomyopathy

Ingles, Jodie, Sarina, Tanya, Yeates, Laura, Hunt, Lauren, Macciocca, Ivan, McCormack, Louise, Winship, Ingrid, McGaughran, Julie, Atherton, John, Semsarian, Christopher

Journal:

Genetics in Medicine

Year:

2013

Language:

english

File:

PDF, 688 KB

english, 2013

10

Klippel-Feil anomaly in Fanconi anemia

McGaughran, Julie

Journal:

Clinical Dysmorphology

Year:

2003

Language:

english

File:

PDF, 37 KB

english, 2003

11

Genetic Testing for Inherited Heart Diseases: Longitudinal Impact on Health-Related Quality of Life

J. Ingles, L. Yeates, L. O’Brien, J. McGaughran, P. Scuffham, J. Atherton, C. Semsarian

Journal:

Heart Lung & Circulation

Year:

2012

Language:

english

File:

PDF, 94 KB

english, 2012

12

Erratum to “Guidelines for Genetic Testing of Inherited Cardiac Disorders” [Heart Lung Circ. 20 (2011) 681–687]

Jodie Ingles, Poonam R. Zodgekar, Laura Yeates, Ivan Macciocca, Julie McGaughran, Christopher Semsarian, Diane Fatkin

Journal:

Heart Lung & Circulation

Year:

2012

Language:

english

File:

PDF, 49 KB

english, 2012

13

Delineation of the Critical Deletion Region for Congenital Heart Defects, on Chromosome 8p23.1

Koenraad Devriendt, Gert Matthijs, Roeland Van Dael, Marc Gewillig, Benedicte Eyskens, Helle Hjalgrim, Brigitte Dolmer, Julie McGaughran, Karen Bröndum-Nielsen, Peter Marynen, Jean-Pierre Fryns, Joris

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 682 KB

english, 1999

14

PM054 Myocardial Mechanics in Hypertrophic Cardiomyopathy: Is There a Difference between Subtypes?

Lo, Ada, Dooris, Mark, Prasad, Sandhir, McGaughran, Julie, Dahiya, Arun, Ng, Arnold, Younger, John, Parsonage, William, Atherton, John J.

Journal:

Year:

2014

Language:

english

File:

PDF, 220 KB

english, 2014

15

Erratum to: Genomic innovations, transcriptional plasticity and gene loss underlying the evolution and divergence of two highly polyphagous and invasive Helicoverpa pest species

Pearce, S. L., Clarke, D. F., East, P. D., Elfekih, S., Gordon, K. H. J., Jermiin, L. S., McGaughran, A., Oakeshott, J. G., Papanicolaou, A., Perera, O. P., Rane, R. V., Richards, S., Tay, W. T., Wals

Journal:

Year:

2017

Language:

english

File:

PDF, 221 KB

english, 2017

16

Pleural malignancy in a 22-year-old female with a chromosome 22q13 deletion

Julie McGaughran, Mayenaaz Sidhu, Melissa Jessop

Journal:

American Journal of Medical Genetics Part A

Year:

2012

Language:

english

File:

PDF, 53 KB

english, 2012

17

The National Genetic Heart Disease Registry: An Update

J. Ingles, L. Yeates, L. Hunt, V. Connell, T. Thompson, J. McGaughran, A. Davis, R. Weintraub, J. Vohra, I. Winship, D. McTaggart, J. Atherton, C. Semsarian

Journal:

Heart Lung & Circulation

Year:

2010

Language:

english

File:

PDF, 80 KB

english, 2010

18

Cardiac myosin-binding protein C gene mutation expressed as hypertrophic cardiomyopathy and left ventricular noncompaction within two families: Insights from cardiac magnetic resonance in clinical screening

Camuglia, Anthony C., Younger, John F., McGaughran, Julie, Lo, Ada, Atherton, John J.

Journal:

International Journal of Cardiology

Year:

2013

Language:

english

File:

PDF, 377 KB

english, 2013

19

CCDC22: a novel candidate gene for syndromic X-linked intellectual disability

Voineagu, I, Huang, L, Winden, K, Lazaro, M, Haan, E, Nelson, J, McGaughran, J, Nguyen, L S, Friend, K, Hackett, A, Field, M, Gecz, J, Geschwind, D

Journal:

Molecular Psychiatry

Year:

2012

Language:

english

File:

PDF, 277 KB

english, 2012

20

WAGR syndrome and multiple exostoses in a patient with del(11)(p11.2p14.2)

McGaughran, J M, Ward, H B, Evans, D G R

Journal:

Journal of Medical Genetics

Year:

1995

Language:

english

File:

PDF, 364 KB

english, 1995

21

Factors influencing uptake of familial long QT syndrome genetic testing

Burns, Charlotte, McGaughran, Julie, Davis, Andrew, Semsarian, Christopher, Ingles, Jodie

Journal:

American Journal of Medical Genetics Part A

Year:

2016

Language:

english

File:

PDF, 216 KB

english, 2016

22

The Australian Genetic Heart Disease Registry: The First Five Years

Ingles, J., Sarina, T., Connell, V., Kozlovski, J., Yeates, L., Kawa, J., Hunt, L., Ogden, K., Davis, A., Weintraub, R., McTaggart, D., McGaughran, J., Atherton, J., Semsarian, C.

Journal:

Heart Lung & Circulation

Year:

2013

Language:

english

File:

PDF, 88 KB

english, 2013

23

Natural variation in chemosensation: lessons from an island nematode

McGaughran, Angela, Morgan, Katy, Sommer, Ralf J.

Journal:

Ecology and Evolution

Year:

2013

Language:

english

File:

PDF, 745 KB

english, 2013

24

Nasal encephalocele in a child with mosaic trisomy 14

McGaughran, Julie, Stevens, Rebecca, Blond, Adam, Perry, Christopher

Journal:

Clinical Dysmorphology

Year:

2009

Language:

english

File:

PDF, 137 KB

english, 2009

25

A case of Beare???Stevenson syndrome with a broad spectrum of features and a review of the FGFR2 Y375C mutation phenotype

McGaughran, Julie, Sinnott, Stephen, Susman, Rachel, Buckley, Michael F., Elakis, George, Cox, Timothy, Roscioli, Tony

Journal:

Clinical Dysmorphology

Year:

2006

Language:

english

File:

PDF, 154 KB

english, 2006

26

Expanding the genotypic spectrum of CCBE1 mutations in Hennekam syndrome

Crawford, Joanna, Bower, Neil I., Hogan, Benjamin M., Taft, Ryan J., Gabbett, Michael T., McGaughran, Julie, Simons, Cas

Journal:

American Journal of Medical Genetics Part A

Year:

2016

Language:

english

File:

PDF, 563 KB

english, 2016

27

Complete overlap of PHACE syndrome and sternal malformation—vascular dysplasia association

Paul A. James, Julie McGaughran

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 368 KB

english, 2002

28

A second case of severe mental retardation and absent nails of hallux and pollex (Temple–Baraitser syndrome)

Michael T. Gabbett, Ronald C. Clark, Julie M. McGaughran

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 270 KB

english, 2008

29

Separation and spectral properties of diisopropylphosphate, the major decomposition product of isoflurophate

James Arthur Ryan, Whitcomb Riley McGaughran, Carl Joseph Lindemann, Anthony Gabriel Zacchei

Journal:

Journal of Pharmaceutical Sciences

Year:

1979

Language:

english

File:

PDF, 231 KB

english, 1979

30

The National Genetic Heart Disease Registry

Jodie Ingles, Laura Yeates, Vanessa Connell, Julie McGaughran, Andrew Davis, Jitendra Vohra, Robert Weintraub, John Atherton, Chris Semsarian

Journal:

Heart Lung & Circulation

Year:

2008

Language:

english

File:

PDF, 80 KB

english, 2008

31

Continuity in the development of conceptual behavior in preschool children: Response to a rejoinder.

McGaughran, Laurence S., Wylie, Alexander A.

Journal:

Developmental Psychology

Year:

1970

Language:

english

File:

PDF, 309 KB

english, 1970

32

A multidisciplinary renal genetics clinic improves patient diagnosis

Mallett, Andrew, Fowles, Lindsay F, McGaughran, Julie, Healy, Helen, Patel, Chirag

Journal:

The Medical Journal of Australia

Year:

2016

Language:

english

File:

PDF, 248 KB

english, 2016

33

Prenatal diagnosis of Smith-Lemli-Optiz syndrome

Dr. J. M. McGaughran, P. T. Clayton, K. A. Mills, S. Rimmer, L. Moore, D. Donnai

Journal:

American Journal of Medical Genetics Part A

Year:

1995

Language:

english

File:

PDF, 350 KB

english, 1995

34

Expanding the spectrum of TBX5 mutations in Holt-Oram syndrome: detection of two intragenic deletions by quantitative real time PCR, and report of eight novel point mutations

Wiktor Borozdin, Ana M. Bravo Ferrer Acosta, Michael J. Bamshad, Elke M. Botzenhart, Ursula G. Froster, Johannes Lemke, Albert Schinzel, Stephanie Spranger, Julie McGaughran, Dorothea Wand, Krystyna H

Journal:

Year:

2006

Language:

english

File:

PDF, 151 KB

english, 2006

35

The National Genetic Heart Disease Registry: Progress to Date

J. Ingles, L. Yeates, V. Connell, T. Thompson, J.M.M. Cheng, I. Macciocca, J. McGaughran, A. Davis, R. Weintraub, J. Vohra, I. Winship, J. Atherton, C. Semsarian

Journal:

Heart Lung & Circulation

Year:

2009

Language:

english

File:

PDF, 55 KB

english, 2009

36

Landscape and oceanic barriers shape dispersal and population structure in the island nematode Pristionchus pacificus

Morgan, Katy, McGaughran, Angela, Ganeshan, Seelavarn, Herrmann, Matthias, Sommer, Ralf J.

Journal:

Biological Journal of the Linnean Society

Year:

2014

Language:

english

File:

PDF, 1.36 MB

english, 2014

37

Compound Heterozygosity at the FMR1 Gene

Hegde, Madhuri R., Fawkner, Matthew, Chong, Belinda, McGaughran, Julie, Gilbert, Dale, Love, Donald R.

Journal:

Genetic Testing

Year:

2001

Language:

english

File:

PDF, 161 KB

english, 2001

38

Lung Fibrosis, Premature Graying, and Macrocytosis

D. C. Chambers, B. E. Clarke, J. Mcgaughran, C. K. Garcia

Year:

2012

Language:

english

File:

PDF, 691 KB

english, 2012

39

Clinical phenotypes of nine cases of Kabuki syndrome from New Zealand

McGaughran, J., Aftimos, S., Jefferies, C., Winship, I.

Journal:

Clinical Dysmorphology

Year:

2001

Language:

english

File:

PDF, 1.08 MB

english, 2001

40

A tyrosine kinase-activating variant Asn666Ser in PDGFRB causes a progeria-like condition in the severe end of Penttinen syndrome

Bredrup, Cecilie, Stokowy, Tomasz, McGaughran, Julie, Lee, Samuel, Sapkota, Dipak, Cristea, Ileana, Xu, Linda, Tveit, Kåre Steinar, Høvding, Gunnar, Steen, Vidar Martin, Rødahl, Eyvind, Bruland, Ove,

Journal:

European Journal of Human Genetics

Year:

2018

Language:

english

File:

PDF, 1.47 MB

english, 2018

41

Toriello-Carey syndrome: Case report with additional findings

S. Aftimos, J. McGaughran

Journal:

American Journal of Medical Genetics Part A

Year:

2001

Language:

english

File:

PDF, 186 KB

english, 2001

42

Establishment of an Australian National Genetic Heart Disease Registry

Jodie Ingles, Julie McGaughran, Jitendra Vohra, Robert G. Weintraub, Andrew Davis, John Atherton, Christopher Semsarian

Journal:

Heart Lung & Circulation

Year:

2008

Language:

english

File:

PDF, 185 KB

english, 2008

43

An Apparatus for the Quantitative Separation of Volatile Substances by Fractionation and Distillation

MCGAUGHRAN, W. R., WERCH, S. C.

Journal:

Year:

1947

Language:

english

File:

PDF, 103 KB

english, 1947

44

Dilated cardiomyopathy - three brothers and a BAG3 mutation

Hunt, L., Atherton, J., McGaughran, J.

Journal:

Heart Lung & Circulation

Year:

2014

Language:

english

File:

PDF, 349 KB

english, 2014

45

Confounder bias in sudden death risk stratification for hypertrophic cardiomyopathy

Ingles, J., Medi, C., Burns, C., McCormack, L., Yeates, L., Hunt, L., McGaughran, J., McGeechan, K., Atherton, J., Driscoll, T., Semsarian, C.

Journal:

Heart Lung & Circulation

Year:

2015

Language:

english

File:

PDF, 65 KB

english, 2015

46

Syndactyly, micrognathia and skeletal anomalies: a new syndrome?

McGaughran, Julie, Moore, Lynette, Russell, Sarah, Donnai, Dian

Journal:

Clinical Dysmorphology

Year:

1998

File:

PDF, 257 KB

1998

47

Multi locus analysis of Pristionchus pacificus on La Réunion Island reveals an evolutionary history shaped by multiple introductions, constrained dispersal events and rare out-crossing

KATY MORGAN, ANGELA McGAUGHRAN, LAURE VILLATE, MATTHIAS HERRMANN, HANH WITTE, GABI BARTELMES, JACQUES ROCHAT, RALF J. SOMMER

Journal:

Molecular Ecology

Year:

2012

Language:

english

File:

PDF, 1.38 MB

english, 2012

48

Synpolydactyly Phenotypes Correlate with Size of Expansions in HOXD13 Polyalanine Tract

F. R. Goodman, S. Mundlos, Y. Muragaki, D. Donnai, M. L. Giovannucci-Uzielli, E. Lapi, F. Majewski, J. McGaughran, C. McKeown, W. Reardon, J. Upton, R. M. Winter, B. R. Olsen and P. J. Scambler

Journal:

Proceedings of the National Academy of Sciences

Year:

1997

Language:

english

File:

PDF, 1.39 MB

english, 1997

49

Genetic testing for monogenic cardiac disorders in minors: Review of all minors referred to a cardiac genetics service over a 5 year period

Wallis, M., Hunt, L., Atherton, J., Stathis, S., McGaughran, J.

Journal:

Heart Lung & Circulation

Year:

2014

Language:

english

File:

PDF, 223 KB

english, 2014

50

A severe case of oculo-ectodermal syndrome?

James, Paul A., McGaughran, Julie

Journal:

Clinical Dysmorphology

Year:

2002

Language:

english

File:

PDF, 207 KB

english, 2002

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