Delon, Isabelle: search on Z-Library

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1

Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency

Alston, Charlotte L., Heidler, Juliana, Dibley, Marris G., Kremer, Laura S., Taylor, Lucie S., Fratter, Carl, French, Courtney E., Glasgow, Ruth I.C., Feichtinger, René G., Delon, Isabelle, Pagnamenta

Journal:

The American Journal of Human Genetics

Year:

2018

Language:

english

File:

PDF, 1.43 MB

english, 2018

2

Downstream of Identity Genes: Muscle-Type-Specific Regulation of the Fusion Process

Laetitia Bataillé, Isabelle Delon, Jean Philippe Da Ponte, Nicholas H. Brown, Krzysztof Jagla

Journal:

Developmental Cell

Year:

2010

Language:

english

File:

PDF, 2.79 MB

english, 2010

3

Molecularly proven mosaicism in phenotypically normal parent of a girl with Freeman-Sheldon Syndrome caused by a pathogenic MYH3 mutation

Hague, Jennifer, Delon, Isabelle, Brugger, Kim, Martin, Howard, Abbs, Stephen, Park, Soo-Mi

Journal:

American Journal of Medical Genetics Part A

Year:

2016

Language:

english

File:

PDF, 4.32 MB

english, 2016

4

Evolution of the Drosophila larval trichome pattern through cis-regulatory mutations at an enhancer of a single gene

Gregory K. Davis, Laura Sillers, Purak Parikh, Alistair McGregor, Virginie Orgogozo, Isabelle Delon, Jennifer Zanet, Dayalan G. Srinivasan, Francoise Payre, David L. Stern

Journal:

Developmental Biology

Year:

2008

Language:

english

File:

PDF, 68 KB

english, 2008

5

Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing

Sanchis-Juan, Alba, Stephens, Jonathan, French, Courtney E., Gleadall, Nicholas, Mégy, Karyn, Penkett, Christopher, Shamardina, Olga, Stirrups, Kathleen, Delon, Isabelle, Dewhurst, Eleanor, Dolling, H

Journal:

Genome Medicine

Year:

2018

Language:

english

File:

PDF, 856 KB

english, 2018

6

Do Communities Really “Direct” in Community-Directed Interventions? A Qualitative Assessment of Beneficiaries’ Perceptions at 20 Years of Community Directed Treatment with Ivermectin in Cameroon

Dissak-Delon, Fanny Nadia, Kamga, Guy-Roger, Humblet, Perrine Claire, Robert, Annie, Souopgui, Jacob, Kamgno, Joseph, Ghogomu, Stephen Mbigha, Godin, Isabelle

Journal:

Tropical Medicine and Infectious Disease

Year:

2019

Language:

english

File:

PDF, 528 KB

english, 2019

7

Spinal muscular atrophy diagnosis and carrier screening from genome sequencing data

Chen, Xiao, Sanchis-Juan, Alba, French, Courtney E., Connell, Andrew J., Delon, Isabelle, Kingsbury, Zoya, Chawla, Aditi, Halpern, Aaron L., Taft, Ryan J., Bentley, David R., Butchbach, Matthew E. R.,

Journal:

Genetics in Medicine

Year:

2020

File:

PDF, 838 KB

2020

8

Cell–Matrix Adhesion: The Wech Connection

Isabelle Delon, Nick Brown

Journal:

Current Biology

Year:

2008

Language:

english

File:

PDF, 146 KB

english, 2008

9

The Ovo/Shavenbaby transcription factor specifies actin remodelling during epidermal differentiation in Drosophila

Isabelle Delon, Hélène Chanut-Delalande, François Payre

Journal:

Mechanisms of Development

Year:

2003

Language:

english

File:

PDF, 930 KB

english, 2003

10

Dmoesin controls actin-based cell shape and polarity during Drosophila melanogaster oogenesis

Polesello, Cédric, Delon, Isabelle, Valenti, Philippe, Ferrer, Pierre, Payre, François

Journal:

Nature Cell Biology

Year:

2002

Language:

english

File:

PDF, 1.88 MB

english, 2002

11

Integrins and the actin cytoskeleton

Isabelle Delon, Nicholas H Brown

Journal:

Current Opinion in Cell Biology

Year:

2007

Language:

english

File:

PDF, 1.09 MB

english, 2007

12

Evolution of larval morphology in flies: get in shape with shavenbaby

Isabelle Delon, François Payre

Journal:

Trends in Genetics

Year:

2004

Language:

english

File:

PDF, 558 KB

english, 2004

13

Malignant Peripheral Nerve Sheath Tumor in Cowden Syndrome

Taylor, Amy, Delon, Isabelle, Allinson, Kieren, Trotman, Jamie, Liu, Hongxiang, Abbs, Stephen, Tischkowitz, Marc

Journal:

Journal of Neuropathology and Experimental Neurology

Year:

2015

Language:

english

File:

PDF, 941 KB

english, 2015

14

Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children

French, Courtney E., Delon, Isabelle, Dolling, Helen, Sanchis-Juan, Alba, Shamardina, Olga, Mégy, Karyn, Abbs, Stephen, Austin, Topun, Bowdin, Sarah, Branco, Ricardo G., Firth, Helen, Rowitch, David H

Journal:

Intensive Care Medicine

Year:

2019

Language:

english

File:

PDF, 1.09 MB

english, 2019

15

803

Raymond, Lucy, French, Courtney, Delon, Isabelle, Dolling, Helen, Sanchis-Juan, Alba, Austin, Topun, Branco, Ricardo Garcia, Rowitch, David

Journal:

Critical Care Medicine

Year:

2019

File:

PDF, 74 KB

2019

16

Adherence to ivermectin is more associated with perceptions of community directed treatment with ivermectin organization than with onchocerciasis beliefs

Dissak-Delon, Fanny Nadia, Kamga, Guy-Roger, Humblet, Perrine Claire, Robert, Annie, Souopgui, Jacob, Kamgno, Joseph, Essi, Marie José, Ghogomu, Stephen Mbigha, Godin, Isabelle, Hoerauf, Achim

Journal:

PLoS Neglected Tropical Diseases

Year:

2017

Language:

english

File:

PDF, 1.26 MB

english, 2017

17

A cross-sectional survey of emergency and essential surgical care capacity among hospitals with high trauma burden in a Central African country

Kouo-Ngamby, Marquise, Dissak-Delon, Fanny Nadia, Feldhaus, Isabelle, Juillard, Catherine, Stevens, Kent A., Ekeke-Monono, Martin

Journal:

BMC Health Services Research

Year:

2015

Language:

english

File:

PDF, 886 KB

english, 2015

18

Regulatory evolution of shavenbaby/ovo underlies multiple cases of morphological parallelism

Sucena, Elio, Delon, Isabelle, Jones, Isaac, Payre, François, Stern, David L.

Journal:

Year:

2003

Language:

english

File:

PDF, 666 KB

english, 2003

19

Enzymic and Chemical Reduction of the Iron Center of the Escherichia coli Ribonucleotide Reductase Protein R2 : The Role of the C-Terminus

Jacques Covès, Betty Delon, Isabel Climent, Britt-Marie Sjöberg, Marc Fontecave

Journal:

Year:

1995

Language:

english

File:

PDF, 802 KB

english, 1995

20

Functional polarization of the Escherichia coli chromosome terminus: the dif site acts in chromosome dimer resolution only when located between long stretches of opposite polarity

Koryn Pérals, François Cornet, Yann Merlet, Isabelle Delon, Jean-Michel Louarn

Journal:

Molecular Microbiology

Year:

2000

Language:

english

File:

PDF, 428 KB

english, 2000

21

Morphological evolution through multiple cis-regulatory mutations at a single gene

McGregor, Alistair P., Orgogozo, Virginie, Delon, Isabelle, Zanet, Jennifer, Srinivasan, Dayalan G., Payre, François, Stern, David L.

Journal:

Year:

2007

Language:

english

File:

PDF, 893 KB

english, 2007

22

Male child with somatic mosaic Osteopathia Striata with Cranial Sclerosis caused by a novel pathogenic AMER1 frameshift mutation

Hague, Jennifer, Delon, Isabelle, Brugger, Kim, Martin, Howard, Sparnon, Leanne, Simonic, Ingrid, Abbs, Stephen, Park, Soo-Mi

Journal:

American Journal of Medical Genetics Part A

Year:

2017

Language:

english

File:

PDF, 1.54 MB

english, 2017

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