E-LIB Suche - Ergebnisse für: Goossens, Michel

1

The LaTeX Graphics companion: tools and techniques for comp..:

Goossens, Michel ; Mittelbach, Frank ; Rahtz, S. P. Q.. - Second Edition (reprinted) . , 2022

Link: https://search.ebscohost..

2

Two new cases of interstitial 7q35q36.1 deletion including ..:

Tosca, Lucie ; Drévillon, Loïc ; Mouka, Aurélie...
Molecular Genetics & Genomic Medicine. 9 (2021) 11 - p. , 2021

Link: https://doi.org/10.1002/..

3

0353: Prevalence of hereditary transthyretin cardiac amyloi..:

Damy, Thibaud ; Costes, Bruno ; Hagège, Alain...
Archives of Cardiovascular Diseases Supplements. 8 (2016) 1 - p. 25 , 2016

Link: https://doi.org/10.1016/..

4

Prevalence and clinical phenotype of hereditary transthyret..:

Damy, Thibaud ; Costes, Bruno ; Hagège, Albert A....
European Heart Journal. 37 (2015) 23 - p. 1826-1834 , 2015

Link: https://doi.org/10.1093/..

5

Complex translocation t(1;12;14)(q42;q14;q32) and HMGA2 del..:

Raymond, Laure ; Francou, Bruno ; Petit, François...
European Journal of Medical Genetics. 58 (2015) 11 - p. 591-596 , 2015

Link: https://doi.org/10.1016/..

6

Inherited 1q21.1q21.2 duplication and 16p11.2 deletion: A t..:

Brisset, Sophie ; Capri, Yline ; Briand-Suleau, Audrey...
European Journal of Medical Genetics. 58 (2015) 9 - p. 497-501 , 2015

Link: https://doi.org/10.1016/..

7

Double Xp11.22 deletion including SHROOM4 and CLCN5 associa..:

Armanet, Narjes ; Metay, Corinne ; Brisset, Sophie...
Molecular Cytogenetics. 8 (2015) 1 - p. 8 , 2015

Link: https://doi.org/10.1186/..

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Anophthalmia, hearing loss, abnormal pituitary development ..:

Brisset, Sophie ; Slamova, Zuzana ; Dusatkova, Petra...
Molecular Cytogenetics. 7 (2014) 1 - p. , 2014

Link: https://doi.org/10.1186/..

9

ZEB2 zinc-finger missense mutations lead to hypomorphic all..:

Ghoumid, Jamal ; Drevillon, Loïc ; Alavi-Naini, Seyedeh Maryam...
Human Molecular Genetics. 22 (2013) 13 - p. 2652-2661 , 2013

Link: https://doi.org/10.1093/..

10

Loss-of-Function Mutations in SOX10 Cause Kallmann Syndrome..:

Pingault, Veronique ; Bodereau, Virginie ; Baral, Viviane...
The American Journal of Human Genetics. 92 (2013) 5 - p. 707-724 , 2013

Link: https://doi.org/10.1016/..

11

KBP–cytoskeleton interactions underlie developmental anomal..:

Drévillon, Loïc ; Megarbane, André ; Demeer, Bénédicte...
Human Molecular Genetics. 22 (2013) 12 - p. 2387-2399 , 2013

Link: https://doi.org/10.1093/..

12

SEMA3A deletion in a family with Kallmann syndrome validate..:

Young, Jacques ; Metay, Corinne ; Bouligand, Jerome...
Human Reproduction. 27 (2012) 5 - p. 1460-1465 , 2012

Link: https://doi.org/10.1093/..

13

Small supernumerary marker chromosomes derived from chromos..:

Guediche, Narjes ; Tosca, Lucie ; Nouchy, Marc...
European Journal of Medical Genetics. 55 (2012) 12 - p. 737-742 , 2012

Link: https://doi.org/10.1016/..

14

Screening of MITF and SOX10 Regulatory Regions in Waardenbu..:

Baral, Viviane ; Chaoui, Asma ; Watanabe, Yuli...
PLoS ONE. 7 (2012) 7 - p. e41927 , 2012

Link: https://doi.org/10.1371/..

15

COMMD1-Mediated Ubiquitination Regulates CFTR Trafficking:

Drévillon, Loïc ; Tanguy, Gaëlle ; Hinzpeter, Alexandre...
PLoS ONE. 6 (2011) 3 - p. e18334 , 2011

Link: https://doi.org/10.1371/..