John L Tolmie: search on Z-Library

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1

A Hudson's Bay Company Contract

John McPhail and William Fraser Tolmie

Journal:

The Quarterly of the Oregon Historical Society

Year:

1916

Language:

english

File:

PDF, 315 KB

english, 1916

2

Microcephaly: Genetic counselling and antenatal diagnosis after the birth of an affected child

Dr. J. L. Tolmie, Margaret McNay, J. B. P. Stephenson, D. Doyle, J. M. Connor, John M. Opitz, James F. Reynolds

Journal:

American Journal of Medical Genetics Part A

Year:

1987

Language:

english

File:

PDF, 1.40 MB

english, 1987

3

Second trimester prenatal diagnosis of the Jarcho-Levin syndrome

Dr. John L. Tolmie, Martin J. Whittle, Margaret B. McNay, Angus A. M. Gibson, J. M. Connor

Journal:

Prenatal Diagnosis

Year:

1987

Language:

english

File:

PDF, 555 KB

english, 1987

4

Representing knowledge: instances of management information

John A. Hughes, Mark Rouncefield, Peter Tolmie

Journal:

The British Journal of Sociology

Year:

2002

Language:

english

File:

PDF, 707 KB

english, 2002

5

Phenotype, ovarian function, and growth in patients with 45,X/47,XXX Turner mosaicism: Implications for prenatal counseling and estrogen therapy at puberty

Joanne Blair, John Tolmie, Anne S. Hollman, Malcolm D.C. Donaldson

Journal:

The Journal of Pediatrics

Year:

2001

Language:

english

File:

PDF, 76 KB

english, 2001

6

CHEST X-RAYS AND THE CHILD WITH ASTHMA

Journal:

Year:

1983

Language:

english

File:

PDF, 145 KB

english, 1983

7

Across the great divide: the plant cell surface continuum

McKenna, Joseph F, Tolmie, A Frances, Runions, John

Journal:

Current Opinion in Plant Biology

Year:

2014

Language:

english

File:

PDF, 1.65 MB

english, 2014

8

Nine novel L1 CAM mutations in families with X-linked hydrocephalus

John R. MacFarlane, Jian-Sheng Du, Miriam E. Pepys, Simon Ramsden, Dian Donnai, Ruth Charlton, Christine Garrett, John Tolmie, John R. W. Yates, Caroline Berry, David Goudie, Anne Moncla, Peter Lunt,

Journal:

Year:

1997

Language:

english

File:

PDF, 226 KB

english, 1997

9

The Neu–Laxova syndrome in female sibs: Clinical and pathological features with prenatal diagnosis in the second sib

Dr. J. L. Tolmie, G. Mortimer, D. Doyle, R. McKenzie, J. McLaurin, J. P. Neilson, John M. Opitz, James F. Reynolds

Journal:

American Journal of Medical Genetics Part A

Year:

1987

Language:

english

File:

PDF, 710 KB

english, 1987

10

A lethal multiple pterygium syndrome with apparent X-linked recessive inheritance

Dr. J. L. Tolmie, A. Patrick, J. R. W. Yates, John M. Opitz, James F. Reynolds

Journal:

American Journal of Medical Genetics Part A

Year:

1987

Language:

english

File:

PDF, 1.35 MB

english, 1987

11

Congenital diaphragmatic defects and maternal serum alphafetoprotein

Jennifer A. Crossley, John L. Tolmie, David A. Aitken, Seonaig Easton, Giovanni Neri, John M. Opitz

Journal:

American Journal of Medical Genetics Part A

Year:

1988

Language:

english

File:

PDF, 103 KB

english, 1988

12

WT1 mutations in Meacham syndrome suggest a coelomic mesothelial origin of the cardiac and diaphragmatic malformations

Mohnish Suri, Peter Kelehan, David O'Neill, Shantala Vadeyar, Judith Grant, S. Faisal Ahmed, John Tolmie, Emma McCann, Wayne Lam, Shirley Smith, David FitzPatrick, Nicholas D. Hastie, William Reardon

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 168 KB

english, 2007

13

Phenotypic Comparison of Two Scottish Families with Mutations in Different Genes Causing Autosomal Dominant Nocturnal Frontal Lobe Epilepsy

Ailsa McLellan, Hilary A. Phillips, Christopher Rittey, Martin Kirkpatrick, John C. Mulley, David Goudie, John B. P. Stephenson, John Tolmie, Ingrid E. Scheffer, Samuel F. Berkovic, Sameer M. Zuberi

Journal:

Year:

2003

Language:

english

File:

PDF, 145 KB

english, 2003

14

Detection of an unbalanced translocation (4;14) in a mildly retarded father and son by flow cytometry

Alexander Cooke, John L. Tolmie, James M. Colgan, Caroline M. Greig, J. Michael Connor

Journal:

Year:

1989

Language:

english

File:

PDF, 709 KB

english, 1989

15

Aubrey Milunsky (Ed): Genetic disorders and the fetus. Diagnosis, prevention and treatment (fifth edition). The Johns Hopkins University Press (2004), ISBN 0-8018-7928-0, hardcover, £160.50

Journal:

Year:

2005

Language:

english

File:

PDF, 97 KB

english, 2005

16

Charles J. Epstein, Robert P. Erickson, Anthony Wynshaw-Boris (eds): Inborn errors of development

Journal:

Year:

2009

Language:

english

File:

PDF, 117 KB

english, 2009

17

Genetic Disorders and the Fetus. Diagnosis, Prevention and Treatment. Fourth Edition, 1998

Journal:

Year:

1999

Language:

english

File:

PDF, 14 KB

english, 1999

18

Focal segmental glomerulosclerosis, Coats’-like retinopathy, sensorineural deafness and chromosome 4 duplication: a new association

Ben C. Reynolds, Richard J. L. F. Lemmers, John Tolmie, Allan G. Howatson, David A. Hughes

Journal:

Pediatric Nephrology

Year:

2010

Language:

english

File:

PDF, 179 KB

english, 2010

19

Some ’real’ problems of ’virtual’ organisation

John A. Hughes, Jon O’Brien, Dave Randall, Mark Rouncefield, Peter Tolmie

Journal:

New Technology, Work and Employment

Year:

2001

Language:

english

File:

PDF, 199 KB

english, 2001

20

An autosomal recessive adducted thumb-club foot syndrome observed in Turkish cousins

Munis Dundar, Fatma Demiryilmaz, Ilhan Demiryilmaz, Sefer Kumandas, Kuddusi Erkilic, Mustafa Kendirci, Mehmet Tuncel, Isilay Ozyazgan, John L Tolmie

Journal:

Clinical Genetics

Year:

1997

Language:

english

File:

PDF, 1.07 MB

english, 1997

21

Electro-clinical phenotypes of chromosome disorders associated with epilepsy in the absence of dysmorphism

Stewart Macleod, Arup Mallik, John L. Tolmie, John B.P Stephenson, Mary E. O'Regan, Sameer M. Zuberi

Journal:

Brain and Development

Year:

2005

Language:

english

File:

PDF, 412 KB

english, 2005

22

The movement disorders of Coffin–Lowry syndrome

John B.P. Stephenson, Mary C. Hoffman, Aline J.C. Russell, Jane Falconer, Richard C. Beach, John L. Tolmie, Robert C. McWilliam, Sameer M. Zuberi

Journal:

Brain and Development

Year:

2005

Language:

english

File:

PDF, 386 KB

english, 2005

23

Pyruvate dehydrogenase E2 deficiency: A potentially treatable cause of episodic dystonia

Catherine A. McWilliam, Cheryl K. Ridout, Ruth M. Brown, Robert C. McWilliam, John Tolmie, Garry K. Brown

Journal:

European Journal of Paediatric Neurology

Year:

2010

Language:

english

File:

PDF, 376 KB

english, 2010

24

Peripheral hyperstimulation alters site of disease onset and course in SOD1 rats

Angelo C. Lepore, Christopher Tolmie, John O'Donnell, Megan C. Wright, Christine Dejea, Britta Rauck, Ahmet Hoke, Anthony R. Ignagni, Raymond P. Onders, Nicholas J. Maragakis

Journal:

Neurobiology of Disease

Year:

2010

Language:

english

File:

PDF, 1.93 MB

english, 2010

25

Partners, not patients: Down Syndrome. A Promising Future, Together, by Terry J. Hassold and David Patterson

Journal:

Trends in Genetics

Year:

1999

Language:

english

File:

PDF, 50 KB

english, 1999

26

The face of Ulnar Mammary syndrome?

Shelagh Joss, Usha Kini, Richard Fisher, Stefan Mundlos, Katrina Prescott, Ruth Newbury-Ecob, John Tolmie

Journal:

European Journal of Medical Genetics

Year:

2011

Language:

english

File:

PDF, 1.38 MB

english, 2011

27

Clinical features and respiratory complications in Myhre syndrome

Ruth McGowan, Ramkumar Gulati, Pamela McHenry, Alexander Cooke, Sandra Butler, Wee Teik Keng, Victoria Murday, Margo Whiteford, Frederik G. Dikkers, Brigit Sikkema-Raddatz, Ton van Essen, John Tolmie

Journal:

European Journal of Medical Genetics

Year:

2011

Language:

english

File:

PDF, 899 KB

english, 2011

28

Familial Mediterranean Fever in a cold climate: read The Lancet

Laura Stewart, John Tolmie, Paul Galea, Isabelle Touitou

Journal:

Year:

2000

Language:

english

File:

PDF, 45 KB

english, 2000

29

The Molecular Basis of Malonyl-CoA Decarboxylase Deficiency

David R. FitzPatrick, Alison Hill, John L. Tolmie, David R. Thorburn, John Christodoulou

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 755 KB

english, 1999

30

Mutations in the Embryonal Subunit of the Acetylcholine Receptor (CHRNG) Cause Lethal and Escobar Variants of Multiple Pterygium Syndrome

Neil V. Morgan, Louise A. Brueton, Phillip Cox, Marie T. Greally, John Tolmie, Shanaz Pasha, Irene A. Aligianis, Hans van Bokhoven, Tamas Marton, Lihadh Al-Gazali, Jenny E.V. Morton, Christine Oley, C

Journal:

The American Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 401 KB

english, 2006

31

Mutations in STRA6 Cause a Broad Spectrum of Malformations Including Anophthalmia, Congenital Heart Defects, Diaphragmatic Hernia, Alveolar Capillary Dysplasia, Lung Hypoplasia, and Mental Retardation

Francesca Pasutto, Heinrich Sticht, Gerhard Hammersen, Gabriele Gillessen-Kaesbach, David R. FitzPatrick, Gudrun Nürnberg, Frank Brasch, Heidemarie Schirmer-Zimmermann, John L. Tolmie, David Chitayat,

Journal:

The American Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 1.21 MB

english, 2007

32

Results of Duchenne muscular dystrophy family screening in practice: leaks rather than cascades?

Ruth McGowan, Benjamin R. Challoner, Sarah Ross, Susan Holloway, Shelagh Joss, Douglas Wilcox, Simon T. Holden, John Tolmie, Cheryl Longman

Journal:

Clinical Genetics

Year:

2012

Language:

english

File:

PDF, 490 KB

english, 2012

33

No. I. INSTRUMENT FOR THE USE OF BOOT AND SHOE MAKERS

James Dowie, Alex. Black, Andrew Dewar, Alex. C. Dewar, John Dewar, John Tolmie, John Anderson and J. Wallace

Journal:

Transactions of the Society, Instituted at London, for the Encouragement of Arts, Manufactures, and Commerce

Year:

1827-1828

Language:

english

File:

PDF, 582 KB

english, 1827-1828

34

SMAD4 mutations causing Myhre syndrome result in disorganization of extracellular matrix improved by losartan

Piccolo, Pasquale, Mithbaokar, Pratibha, Sabatino, Valeria, Tolmie, John, Melis, Daniela, Schiaffino, Maria Cristina, Filocamo, Mirella, Andria, Generoso, Brunetti-Pierri, Nicola

Journal:

European Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 4.25 MB

english, 2014

35

Discussion

Tolmie, John, Marriott, Robert, Kalin, Albert, Libby, T., Mason, Howard

Journal:

Proceedings of the Institute of Radio Engineers

Year:

1923

Language:

english

File:

PDF, 134 KB

english, 1923

36

The phenotype of congenital insensitivity to pain due to the NaV1.9 variant p.L811P

Woods, Christopher Geoffrey, Babiker, Mohamed Osman Eltahir, Horrocks, Iain, Tolmie, John, Kurth, Ingo

Journal:

European Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 237 KB

english, 2015

37

Diverse phenotypic consequences of mutations affecting the C-terminus of FLNA

van Kogelenberg, Margriet, Clark, Alice R., Jenkins, Zandra, Morgan, Tim, Anandan, Ananda, Sawyer, Gregory M., Edwards, Matthew, Dudding, Tracy, Homfray, Tessa, Castle, Bruce, Tolmie, John, Stewart, F

Journal:

Journal of Molecular Medicine

Year:

2015

Language:

english

File:

PDF, 5.71 MB

english, 2015

38

Situs inversus totalis and congenital hypoglossia associated with atrial ectopic bradycardia and normal neurodevelopmental outcome

McLaren, Laura B., Mactier, Helen, Tolmie, John

Journal:

Clinical Dysmorphology

Year:

2013

Language:

english

File:

PDF, 180 KB

english, 2013

39

DNA copy number variations are important in the complex genetic architecture of müllerian disorders

McGowan, Ruth, Tydeman, Graham, Shapiro, David, Craig, Tracey, Morrison, Norma, Logan, Susan, Balen, Adam H., Ahmed, S. Faisal, Deeny, Miriam, Tolmie, John, Tobias, Edward S.

Journal:

Fertility and Sterility

Year:

2015

Language:

english

File:

PDF, 376 KB

english, 2015

40

Deterioration of Visual Acuity Associated with Growth Hormone Therapy in a Child with Extreme Short Stature and High Hypermetropia

Paterson, Wendy F., Kelly, Brian, Newman, William, Savage, Martin O., Camacho-H&uuml, bner, Cecilia, Dutton, Gordon N., Tolmie, John, Donaldson, Malcolm D.C.

Journal:

Hormone Research

Year:

2007

Language:

english

File:

PDF, 174 KB

english, 2007

41

A Novel Missense Mutation in Dax-1 with an Unusual Presentation of X-Linked Adrenal Hypoplasia Congenita

Ahmad, Imran, Paterson, Wendy F., Lin, Lin, Adlard, Peter, Duncan, Philippa, Tolmie, John, Achermann, John C., Donaldson, Malcolm D.C.

Journal:

Hormone Research

Year:

2007

Language:

english

File:

PDF, 144 KB

english, 2007

42

Molecular genetic analysis of the 3p — syndrome

Phipps, Maude E., Latif, Farida, Prowse, Amanda, Payne, Stewart J., Dietz-Band, Jeanne, Leversha, Margaret, Affara, Nabeel A., Moore, Anthony T., Tolmie, John, Schinzel, Albert, Lerman, Michael I., Fe

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 3.50 MB

english, 1994

43

[ACM Press the international ACM SIGGROUP conference - Phoenix, Arizona, United States (1999.11.14-1999.11.17)] Proceedings of the international ACM SIGGROUP conference on Supporting group work - GROUP '99 - Getting to know the 'customer in the machine'

Hughes, John, O'Brien, Jon, Randall, Dave, Rodden, Tom, Rouncefield, Mark, Tolmie, Peter

Year:

1999

Language:

english

File:

PDF, 1.42 MB

english, 1999

44

Essential Anaesthesia for Medical Students

Tolmie, John D.

Journal:

Year:

1997

File:

PDF, 656 KB

1997

45

Cranial magnetic resonance imaging mistakenly suggests prenatal ischaemia in PEHO-like syndrome

Longman, Cheryl, Tolmie, John, McWilliam, Robert, MacLennan, Alexander

Journal:

Clinical Dysmorphology

Year:

2003

Language:

english

File:

PDF, 309 KB

english, 2003

46

Non-progressive mental retardation and peripheral neuropathy in a mother and her son

Longman, Cheryl, Tolmie, John, McWilliam, Robert

Journal:

Clinical Dysmorphology

Year:

2001

Language:

english

File:

PDF, 222 KB

english, 2001

47

Craniosynostosis associated with intracranial calcification: a novel recessive syndrome

Longman, Cheryl, Whiteford, Margo, Koppel, David, Donaldson, Malcolm, Paterson, Wendy, Tolmie, John

Journal:

Clinical Dysmorphology

Year:

2003

Language:

english

File:

PDF, 445 KB

english, 2003

48

A Simple Suction Device for ???Crash??? Inductions

TOLMIE, JOHN D., BLACKARD, ROBERT F.

Journal:

Anesthesia & Analgesia

Year:

1973

Language:

english

File:

PDF, 430 KB

english, 1973

49

Succinylcholine Danger in the Burned Patient

Tolmie, John D., Joyce, Thomas H., Mitchell, George D.

Journal:

Year:

1967

File:

PDF, 185 KB

1967

50

Roberts syndrome: facial dysmorphology in a mildly affected case

Ahmed, Ayesha Ali, Imrie, Stuart, Duncan, Rod, Tolmie, John

Journal:

Clinical Dysmorphology

Year:

2009

Language:

english

File:

PDF, 121 KB

english, 2009

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