M. Bahlo : rechercher sur Z-Library

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1

The role of interoperable data standards in precision livestock farming in extensive livestock systems: A review

Bahlo, Christiane, Dahlhaus, Peter, Thompson, Helen, Trotter, Mark

Journal:

Computers and Electronics in Agriculture

Année:

2019

Langue:

english

Fichier:

PDF, 608 KB

english, 2019

2

Small intragenic deletion in FOXP2 associated with childhood apraxia of speech and dysarthria

Turner, Samantha J, Hildebrand, Michael S., Block, Susan, Damiano, John, Fahey, Michael, Reilly, Sheena, Bahlo, Melanie, Scheffer, Ingrid E., Morgan, Angela T.

Journal:

American Journal of Medical Genetics Part A

Année:

2013

Langue:

english

Fichier:

PDF, 1.10 MB

english, 2013

3

Iron-Overload–Related Disease in HFE Hereditary Hemochromatosis

Allen, Katrina J., Gurrin, Lyle C., Constantine, Clare C., Osborne, Nicholas J., Delatycki, Martin B., Nicoll, Amanda J., McLaren, Christine E., Bahlo, Melanie, Nisselle, Amy E., Vulpe, Chris D., Ande

Journal:

Boston Medical and Surgical Journal

Année:

2008

Langue:

english

Fichier:

PDF, 164 KB

english, 2008

4

A novel splice site mutation in EYA4 causes DFNA10 hearing loss

Michael S. Hildebrand, David Coman, Tao Yang, R.J. McKinlay Gardner, Elizabeth Rose, Richard J.H. Smith, Melanie Bahlo, Hans-Henrik M. Dahl

Journal:

American Journal of Medical Genetics Part A

Année:

2007

Langue:

english

Fichier:

PDF, 167 KB

english, 2007

5

The Tasmanian Devil Transcriptome Reveals Schwann Cell Origins of a Clonally Transmissible Cancer

Murchison, E. P., Tovar, C., Hsu, A., Bender, H. S., Kheradpour, P., Rebbeck, C. A., Obendorf, D., Conlan, C., Bahlo, M., Blizzard, C. A.

Journal:

Année:

2009

Langue:

english

Fichier:

PDF, 395 KB

english, 2009

6

A YARS2 mutation is a novel cause of mitochondrial myopathy lactic acidosis and sideroblastic anemia (MLASA) syndrome

Lisa Riley, Sandra Cooper, Peter Hickey, Joëlle Rudinger-Thirion, Matthew McKenzie, Alison Compton, David Thorburn, Mike Ryan, Richard Giegé, Melanie Bahlo, John Christodoulou⁎

Journal:

Année:

2011

Langue:

english

Fichier:

PDF, 72 KB

english, 2011

7

The pupillary light reflex pathway: Cytoarchitectonic probabilistic maps in hemianopic patients

Papageorgiou, E., Ticini, L. F., Hardiess, G., Schaeffel, F., Wiethoelter, H., Mallot, H. A., Bahlo, S., Wilhelm, B., Vonthein, R., Schiefer, U., Karnath, H. -O.

Journal:

Année:

2008

Langue:

english

Fichier:

PDF, 633 KB

english, 2008

8

Monitoring System with Event Controlled Sampling Operated by a MSP430 Microcontroller

Schaeper, M., Bahlo, R., Jaskulke, R.

Journal:

IFAC Proceedings Volumes

Année:

2008

Langue:

english

Fichier:

PDF, 1.04 MB

english, 2008

9

Mosaic uniparental disomy results in GM1 gangliosidosis with normal enzyme assay

Myers, Kenneth A., Bennett, Mark F., Chow, Chung W., Carden, Susan M., Mandelstam, Simone A., Bahlo, Melanie, Scheffer, Ingrid E.

Journal:

American Journal of Medical Genetics Part A

Année:

2017

Langue:

english

Fichier:

PDF, 996 KB

english, 2017

10

Unexplored Areas of Direct Solvolytic Liquefaction of Lignocellulosic Biomass

Bahlo, Rune L., Hursthouse, Andrew S., Sievers, Anika, Willner, Thomas

Journal:

Chemie Ingenieur Technik

Année:

2018

Langue:

english

Fichier:

PDF, 137 KB

english, 2018

11

Bendamustine followed by obinutuzumab and venetoclax in chronic lymphocytic leukaemia (CLL2-BAG): primary endpoint analysis of a multicentre, open-label, phase 2 trial

Cramer, Paula, von Tresckow, Julia, Bahlo, Jasmin, Robrecht, Sandra, Langerbeins, Petra, Al-Sawaf, Othman, Engelke, Anja, Fink, Anna-Maria, Fischer, Kirsten, Tausch, Eugen, Seiler, Till, Fischer von W

Journal:

The Lancet Oncology

Année:

2018

Langue:

english

Fichier:

PDF, 1.12 MB

english, 2018

12

Reanalysis and optimisation of bioinformatic pipelines is critical for mutation detection

Cowley, Mark J, Liu, Yu-Chi, Oliver, Karen L., Carvill, Gemma, Myers, Candace T., Gayevskiy, Velimir, Delatycki, Martin, Vlaskamp, Danique R.M., Zhu, Ying, Mefford, Heather, Buckley, Michael F., Bahlo

Journal:

Année:

2018

Langue:

english

Fichier:

PDF, 887 KB

english, 2018

13

CLL2-BIG: sequential treatment with bendamustine, ibrutinib and obinutuzumab (GA101) in chronic lymphocytic leukemia

von Tresckow, Julia, Cramer, Paula, Bahlo, Jasmin, Robrecht, Sandra, Langerbeins, Petra, Fink, Anna-Maria, Al-Sawaf, Othman, Illmer, Thomas, Klaproth, Holger, Estenfelder, Sven, Ritgen, Matthias, Fisc

Journal:

Année:

2018

Langue:

english

Fichier:

PDF, 1.01 MB

english, 2018

14

Venetoclax and Obinutuzumab in Patients with CLL and Coexisting Conditions

Fischer, Kirsten, Al-Sawaf, Othman, Bahlo, Jasmin, Fink, Anna-Maria, Tandon, Maneesh, Dixon, Mark, Robrecht, Sandra, Warburton, Simon, Humphrey, Kathryn, Samoylova, Olga, Liberati, Anna M., Pinilla-Ib

Journal:

New England Journal of Medicine

Année:

2019

Langue:

english

Fichier:

PDF, 302 KB

english, 2019

15

The Genetics of Epilepsy

Perucca, Piero, Bahlo, Melanie, Berkovic, Samuel F.

Journal:

Annual Review of Genomics and Human Genetics

Année:

2020

Fichier:

PDF, 411 KB

2020

16

Clinical spectrum of the pentanucleotide repeat expansion in the RFC1 gene in ataxia syndromes

Gisatulin, Maria, Dobricic, Valerija, ZÃ¼hlke, Christine, Hellenbroich, Yorck, Tadic, Vera, MÃ¼nchau, Alexander, Isenhardt, Klaus, BÃ¼rk, Katrin, Bahlo, Melanie, Lockhart, Paul J, Lohmann, Katja, Helm

Journal:

Année:

2020

Fichier:

PDF, 6.03 MB

2020

17

Tracing Autism Traits in Large Multiplex Families to Identify Endophenotypes of the Broader Autism Phenotype

Trevis, Krysta J., Brown, Natasha J., Green, Cherie C., Lockhart, Paul J., Desai, Tarishi, Vick, Tanya, Anderson, Vicki, Pua, Emmanuel P. K., Bahlo, Melanie, Delatycki, Martin B., Scheffer, Ingrid E.,

Journal:

International Journal of Molecular Sciences

Année:

2020

Fichier:

PDF, 1.38 MB

2020

18

Transcriptome analysis of a ring chromosome 20 patient cohort

Myers, Kenneth A., Bennett, Mark F., Hildebrand, Michael S., Coleman, Matthew J., Zhou, Geyu, Hollingsworth, Georgie, Cairns, Anita, Riney, Kate, Berkovic, Samuel F., Bahlo, Melanie, Scheffer, Ingrid

Journal:

Année:

2020

Fichier:

PDF, 652 KB

2020

19

Erster Nachweis von Peroxo- und Bis-Superoxoverbindungen des Aluminiums: FAlO2 und FAlO4

Jan Bahlo, Hans-Jörg Himmel, Hansgeorg Schnöckel

Journal:

Angewandte Chemie

Année:

2001

Fichier:

PDF, 154 KB

2001

20

The First Dectection of Peroxo and Bis-superoxo Complexes of Aluminum: FAlO2 and FAlO4

Jan Bahlo, Hans-Jörg Himmel, Hansgeorg Schnöckel

Journal:

Angewandte Chemie International Edition

Année:

2001

Langue:

english

Fichier:

PDF, 123 KB

english, 2001

21

Keipert syndrome (Nasodigitoacoustic syndrome) is X-linked and maps to Xq22.2–Xq28

David J. Amor, Hans-Henrik M. Dahl, Melanie Bahlo, Agnes Bankier

Journal:

American Journal of Medical Genetics Part A

Année:

2007

Langue:

english

Fichier:

PDF, 182 KB

english, 2007

22

Molecular characterization of a novel X-linked syndrome involving developmental delay and deafness

Michael S. Hildebrand, Michelle G. de Silva, Tiong Yang Tan, Elizabeth Rose, Carla Nishimura, Tanya Tolmachova, Joanne M. Hulett, Susan M. White, Jeremy Silver, Melanie Bahlo, Richard J.H. Smith, Hans

Journal:

American Journal of Medical Genetics Part A

Année:

2007

Langue:

english

Fichier:

PDF, 369 KB

english, 2007

23

A novel splice site mutation in EYA4 causes DFNA10 hearing loss (Am J Med Genet 143(14): 1599–1604)

Michael S. Hildebrand, D. Coman, T. Yang, R.J. Gardner, E. Rose, R.J. Smith, M. Bahlo, H.H. Dahl

Journal:

American Journal of Medical Genetics Part A

Année:

2008

Langue:

english

Fichier:

PDF, 37 KB

english, 2008

24

A novel X-linked form of congenital fiber-type disproportion

Nigel F. Clarke, Robert L. L. Smith, Melanie Bahlo, Kathryn N. North

Journal:

Annals of Neurology

Année:

2005

Langue:

english

Fichier:

PDF, 224 KB

english, 2005

25

ChemInform Abstract: The First Detection of Peroxo and Bis-superoxo Complexes of Aluminum: FAlO2 and FAlO4.

Jan Bahlo, Hans-Joerg Himmel, Hansgeorg Schnoeckel

Journal:

Année:

2002

Fichier:

PDF, 29 KB

2002

26

ChemInform Abstract: Photolytic Reactions of Subvalent Aluminum(I) Halides in the Presence of Dioxygen: Generation and Characterization of the Peroxo Species XAlO2 and XAl(μ-O)2AlX (X: F, Cl, Br).

Jan Bahlo, Hans-Joerg Himmel, Hansgeorg Schnoeckel

Journal:

Année:

2002

Fichier:

PDF, 36 KB

2002

27

Characterization of the Side-On Coordinated Bissuperoxo Complexes of Aluminum FAl(O2)2, ClAl(O2)2, and BrAl(O2)2 with Triplet Electronic Ground States: A Combined Matrix IR and Quantum Chemical Study.

Jan Bahlo, Hans-Joerg Himmel, Hansgeorg Schnoeckel

Journal:

Année:

2002

Fichier:

PDF, 33 KB

2002

28

Matrix Reactivity of AlF and AlCl in the Presence of HCl and HBr: Generation and Characterization of the New Al(III) Hydrides HAlFCl, HAlFBr, and HAlClBr and the Monomeric Mixed Al(III) Halides AlX2Y (X, Y: F, Cl, or Br).

Hans-Joerg Himmel, Jan Bahlo, Michael Haussmann, Fabian Kurth, Gregor Stoesser, Hansgeorg Schnoeckel

Journal:

Année:

2002

Langue:

english

Fichier:

PDF, 35 KB

english, 2002

29

X chromosome association testing in genome wide association studies

Peter F. Hickey, Melanie Bahlo

Journal:

Genetic Epidemiology

Année:

2011

Langue:

english

Fichier:

PDF, 195 KB

english, 2011

30

Mutations in the first MyTH4 domain of MYO15A are a common cause of DFNB3 hearing loss

A. Eliot Shearer, Michael S. Hildebrand, Jennifer A. Webster, Kimia Kahrizi, Nicole C. Meyer, Khadijeh Jalalvand, Sanaz Arzhanginy, William J. Kimberling, Dietrich Stephan, Melanie Bahlo, Richard J. H

Journal:

The Laryngoscope

Année:

2009

Langue:

english

Fichier:

PDF, 679 KB

english, 2009

31

A novel mutation in COCH—implications for genotype-phenotype correlations in DFNA9 hearing loss

Michael S. Hildebrand, Luke Gandolfo, A. Eliot Shearer, Jennifer A. Webster, Maren Jensen, William J. Kimberling, Dietrich Stephan, Patrick L. M. Huygen, Richard J. H. Smith, Melanie Bahlo

Journal:

The Laryngoscope

Année:

2010

Langue:

english

Fichier:

PDF, 1.39 MB

english, 2010

32

Analysis of genome-wide association study data using the protein knowledge base

Sara Ballouz, Jason Y Liu, Martin Oti, Bruno Gaeta, Diane Fatkin, Melanie Bahlo, Merridee A Wouters

Journal:

Année:

2011

Langue:

english

Fichier:

PDF, 349 KB

english, 2011

33

SNP selection for genes of iron metabolism in a study of genetic modifiers of hemochromatosis

Clare C Constantine, Lyle C Gurrin, Christine E McLaren, Melanie Bahlo, Gregory J Anderson, Chris D Vulpe, Susan M Forrest, Katrina J Allen, Dorota M Gertig, the HealthIron Investigators

Journal:

BMC Medical Genetics

Année:

2008

Langue:

english

Fichier:

PDF, 1.23 MB

english, 2008

34

Analysis of extended HLA haplotypes in multiple sclerosis and narcolepsy families confirms a predisposing effect for the class I region in Tasmanian MS patients

Justin P. Rubio, Melanie Bahlo, Jim Stankovich, Rachel K. Burfoot, Laura J. Johnson, Stewart Huxtable, Helmut Butzkueven, Ling Lin, Bruce V. Taylor, Terence P. Speed, Trevor J. Kilpatrick, Emmanuel Mi

Journal:

Année:

2007

Langue:

english

Fichier:

PDF, 247 KB

english, 2007

35

Coalescence time for two genes from a subdivided population

Melanie Bahlo, Robert C. Griffiths

Journal:

Journal of Mathematical Biology

Année:

2001

Langue:

english

Fichier:

PDF, 91 KB

english, 2001

36

SNPs in putative regulatory regions identified by human mouse comparative sequencing and transcription factor binding site data

Poulabi Banerjee, Melanie Bahlo, Jody R. Schwartz, Gabriela G. Loots, Kathryn A. Houston, Inna Dubchak, Terence P. Speed, Edward M. Rubin

Journal:

Mammalian Genome

Année:

2002

Langue:

english

Fichier:

PDF, 183 KB

english, 2002

37

Probabilistic analysis of recessive mutagenesis screen strategies

Jeremy D. Silver, Douglas J. Hilton, Melanie Bahlo, Benjamin T. Kile

Journal:

Mammalian Genome

Année:

2007

Langue:

english

Fichier:

PDF, 384 KB

english, 2007

38

Extended haplotype analysis in the HLA complex reveals an increased frequency of the HFE-C282Y mutation in individuals with multiple sclerosis

Justin P. Rubio, Melanie Bahlo, Niall Tubridy, Jim Stankovich, Rachel Burfoot, Helmut Butzkueven, Caron Chapman, Laura Johnson, Mark Marriott, Grant Mraz, Brian Tait, Chris Wilkinson, Bruce Taylor, Te

Journal:

Année:

2004

Langue:

english

Fichier:

PDF, 377 KB

english, 2004

39

Detecting genome wide haplotype sharing using SNP or microsatellite haplotype data

Melanie Bahlo, Jim Stankovich, Terence P. Speed, Justin P. Rubio, Rachel K. Burfoot, Simon J. Foote

Journal:

Année:

2006

Langue:

english

Fichier:

PDF, 397 KB

english, 2006

40

Identifying nineteenth century genealogical links from genotypes

Jim Stankovich, Melanie Bahlo, Justin P. Rubio, Christopher R. Wilkinson, Russell Thomson, Annette Banks, Maree Ring, Simon J. Foote, Terence P. Speed

Journal:

Année:

2005

Langue:

english

Fichier:

PDF, 404 KB

english, 2005

41

The advantages of dense marker sets for linkage analysis with very large families

Russell Thomson, Stephen Quinn, James McKay, Jeremy Silver, Melanie Bahlo, Liesel FitzGerald, Simon Foote, Jo Dickinson, Jim Stankovich

Journal:

Année:

2007

Langue:

english

Fichier:

PDF, 283 KB

english, 2007

42

Genome-wide linkage scan and association study ofPARLto the expression of LHON families in Thailand

Nopasak Phasukkijwatana, Bussaraporn Kunhapan, Jim Stankovich, Wanicha L. Chuenkongkaew, Russell Thomson, Timothy Thornton, Melanie Bahlo, Taisei Mushiroda, Yusuke Nakamura, Surakameth Mahasirimongkol

Journal:

Année:

2010

Langue:

english

Fichier:

PDF, 544 KB

english, 2010

43

A novel association between a SNP in CYBRD1 and serum ferritin levels in a cohort study of HFE hereditary haemochromatosis

Clare C. Constantine, Greg J. Anderson, Chris D. Vulpe, Christine E. McLaren, Melanie Bahlo, Heng Lin Yeap, Dorota M. Gertig, Nicholas J. Osborne, Nadine A. Bertalli, Kenneth B. Beckman, Victoria Chen

Journal:

British Journal of Haematology

Année:

2009

Langue:

english

Fichier:

PDF, 137 KB

english, 2009

44

Evidence for a common genetic aetiology in high-risk families with multiple haematological malignancy subtypes

Elizabeth M. Tegg, Russell J. Thomson, Jim Stankovich, Annette Banks, Ceri Flowers, Rebekah McWhirter, Jean Panton, Anne Piaszczyk, Melanie Bahlo, Katherine A. Marsden, Ray M. Lowenthal, Simon J. Foot

Journal:

British Journal of Haematology

Année:

2010

Langue:

english

Fichier:

PDF, 566 KB

english, 2010

45

Geochemistry of Holocene salt marsh and tidal flat sediments on a barrier island in the southern North Sea (Langeoog, North-west Germany)

KERSTIN KOLDITZ, OLAF DELLWIG, JAN BARKOWSKI, RAINER BAHLO, THOMAS LEIPE, HOLGER FREUND, HANS-JÜRGEN BRUMSACK

Journal:

Sedimentology (Wiley)

Année:

2012

Langue:

english

Fichier:

PDF, 1.42 MB

english, 2012

46

Variable hearing impairment in a DFNB2 family with a novel MYO7A missense mutation

MS Hildebrand, NP Thorne, CJ Bromhead, K Kahrizi, JA Webster, Z Fattahi, M Bataejad, WJ Kimberling, D Stephan, H Najmabadi, M Bahlo, RJH Smith

Journal:

Clinical Genetics

Année:

2010

Langue:

english

Fichier:

PDF, 713 KB

english, 2010

47

SNP mapping and candidate gene sequencing in the class I region of the HLA complex: searching for multiple sclerosis susceptibility genes in Tasmanians

R. K. Burfoot, C. J. Jensen, J. Field, J. Stankovich, M. D. Varney, L. J. Johnson, H. Butzkueven, D. Booth, M. Bahlo, B. D. Tait, B. V. Taylor, T. P. Speed, R. Heard, G. J. Stewart, S. J. Foote, T. J.

Journal:

Tissue Antigens

Année:

2008

Langue:

english

Fichier:

PDF, 292 KB

english, 2008

48

Replication of KIAA0350, IL2RA, RPL5 and CD58 as multiple sclerosis susceptibility genes in Australians

Rubio, J P, Stankovich, J, Field, J, Tubridy, N, Marriott, M, Chapman, C, Bahlo, M, Perera, D, Johnson, L J, Tait, B D

Journal:

Genes and Immunity

Année:

2008

Langue:

english

Fichier:

PDF, 123 KB

english, 2008

49

Aberrant O-GlcNAcylation characterizes chronic lymphocytic leukemia

Shi, Y, Tomic, J, Wen, F, Shaha, S, Bahlo, A, Harrison, R, Dennis, J W, Williams, R, Gross, B J, Walker, S

Journal:

Année:

2010

Langue:

english

Fichier:

PDF, 709 KB

english, 2010

50

Genome-wide association study identifies new multiple sclerosis susceptibility loci on chromosomes 12 and 20

Bahlo, Melanie, Booth, David R, Broadley, Simon A, Brown, Matthew A, Foote, Simon J, Griffiths, Lyn R, Kilpatrick, Trevor J, Lechner-Scott, Jeanette, Moscato, Pablo, Perreau, Victoria M

Journal:

Nature Genetics

Année:

2009

Langue:

english

Fichier:

PDF, 501 KB

english, 2009