Sorlin, Philippe: search on Z-Library

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1

Cardiomyopathy due to PRDM16 mutation: First description of a fetal presentation, with possible modifier genes

Delplancq, Geoffroy, Tarris, Georges, Vitobello, Antonio, Nambot, Sophie, Sorlin, Arthur, Philippe, Christophe, Carmignac, Virginie, Duffourd, Yannis, Denis, Charlotte, Eicher, Jean Christophe, Chevar

Journal:

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

Year:

2020

Language:

english

File:

PDF, 4.14 MB

english, 2020

2

Rôle pathogène d’une mutation rare de la nicastrine identifiée par séquençage d’exome dans la maladie de Verneuil

Crépin, J.-C., Mau-Them, F. Tran, huther, M., Pasteur, J., Messikh, R., Sorlin, A., Carmignac, V., Thauvin, C., Faivre, L., Philippe, C., Jouan, T., Vabres, P.

Journal:

Annales de Dermatologie et de Vénéréologie

Year:

2018

Language:

french

File:

PDF, 108 KB

french, 2018

3

Kosaki overgrowth syndrome: A novel pathogenic variant in PDGFRB and expansion of the phenotype including cerebrovascular complications

Foster, Alison, Chalot, Basile, Antoniadi, Thalia, Schaefer, Elise, Keelagher, Rebecca, Ryan, Gavin, Thomas, Quentin, Philippe, Christophe, Bruel, AngeâLine, Sorlin, Arthur, ThauvinâRobinet, Chris

Journal:

Clinical Genetics

Year:

2020

File:

PDF, 2.99 MB

2020

4

Conclusion

Bleiklie, Ivar, Laredo, Philippe, Sörlin, Sverker

Journal:

Higher Education Policy

Year:

2007

Language:

english

File:

PDF, 73 KB

english, 2007

5

Description phénotypique de 32 patients avec mutations en mosaïque post-zygotiques de GNAQ ou GNA11

Jordan, M., Carmignac, V., Sorlin, A., Kuentz, P., Philippe, C., Vabres, P.

Journal:

Annales de Dermatologie et de Vénéréologie

Year:

2018

Language:

french

File:

PDF, 293 KB

french, 2018

6

783 Molecular diagnosis of mosaic skin development disorders using next generation sequencing

Carmignac, V., Kuentz, P., Sorlin, A., Chevarin, M., Jouan, T., Duffourd, Y., Rivière, J., Poë, C., Tran-Mau-Them, F., Thauvin-Robinet, C., Faivre, L., Philippe, C., Vabres, P.

Journal:

The Journal of Investigative Dermatology

Year:

2018

Language:

english

File:

PDF, 242 KB

english, 2018

7

NR2F1 regulates regional progenitor dynamics in the mouse neocortex and cortical gyrification in BBSOAS patients

Bertacchi, Michele, Romano, Anna Lisa, Loubat, AgnÃ¨s, Tran MauâThem, Frederic, Willems, Marjolaine, Faivre, Laurence, Khau van Kien, Philippe, Perrin, Laurence, Devillard, FranÃ§oise, Sorlin, Arthu

Journal:

The EMBO Journal

Year:

2020

File:

PDF, 10.97 MB

2020

8

LB1539 Genotype-first phenotyping of 32 patients with post-zygotic GNAQ or GNA11 mutations

Jordan, M., Carmignac, V., Sorlin, A., Kuentz, P., Philippe, C., Vabres, P., cohort, M.

Journal:

The Journal of Investigative Dermatology

Year:

2018

Language:

english

File:

PDF, 243 KB

english, 2018

9

Description phénotypique de 32 patients avec mutations en mosaïque post-zygotiques de GNAQ ou GNA11

Jordan, M., Carmignac, V., Sorlin, A., Kuentz, P., Philippe, C., Vabres, P.

Journal:

Annales de Dermatologie et de Vénéréologie

Year:

2018

File:

PDF, 293 KB

2018

10

Interference with Oral Anticoagulant Treatment by Oestrogen – Influence of Oestrogen Administration Route

Cotton, Frédéric, Sorlin, Philippe, Corvilain, Bernard, Fockedey, Jean-Marie, Capel, Paul

Journal:

Thrombosis and Haemostasis

Year:

1999

Language:

english

File:

PDF, 77 KB

english, 1999

11

Rôle pathogène d’une mutation rare de la nicastrine identifiée par séquençage d’exome dans la maladie de Verneuil

Crépin, J.-C., Mau-Them, F. Tran, huther, M., Pasteur, J., Messikh, R., Sorlin, A., Carmignac, V., Thauvin, C., Faivre, L., Philippe, C., Jouan, T., Vabres, P.

Journal:

Annales de Dermatologie et de Vénéréologie

Year:

2018

File:

PDF, 108 KB

2018

12

Introduction

Ivar Bleiklie,Philippe Laredo,Sverker Sörlin

Journal:

Higher Education Policy

Year:

2007

Language:

english

File:

PDF, 102 KB

english, 2007

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