Publications by authors named "Patrick Thierry"

Claim this Profile
M
Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome.
Fanny Kortüm, Viviana Caputo, Christiane K Bauer, Lorenzo Stella, Andrea Ciolfi, Patrick Thierry

Nat Genet· June 2015

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
H
Homozygous truncating PTPRF mutation causes athelia.
Guntram Borck, Liat de Vries, Hsin-Jung Wu, Pola Smirin-Yosef, Gudrun Nürnberg, Patrick Thierry

Hum Genet· August 2014

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
A new large deletion in the DFNB1 locus causes nonsyndromic hearing loss.
Delphine Feldmann, Cédric Le Maréchal, Laurence Jonard, Patrick Thierry, Cécile Czajka

Eur J Med Genet· November 2009

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
N
No mutation in genes of the WNT signaling pathway in patients with Zimmermann-Laband syndrome.
Benjamin Abo-Dalo, Melanie Roes, Sonia Canún, Martin Delatycki, Gabriele Gillessen-Kaesbach, Patrick Thierry

Clin Dysmorphol· July 2008

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
D
Dissecting the molecular mechanisms in craniofrontonasal syndrome: differential mRNA expression of mutant EFNB1 and the cellular mosaic.
Ilse Wieland, Roman Makarov, William Reardon, Sigrid Tinschert, Alice Goldenberg, Patrick Thierry

Eur J Hum Genet· February 2008

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
N
New cases of Bohring-Opitz syndrome, update, and critical review of the literature.
Axel Bohring, Grétel G Oudesluijs, Dorothy K Grange, Giuseppe Zampino, Patrick Thierry

Am J Med Genet A· June 2006

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
P
Prospective, double-blind, randomized trial of equimolar mixture of nitrous oxide/oxygen to prevent pain induced by insertion of venous access ports in cancer patients.
Marie Cécile Douard, Mario di Palma, Patricia d'Agostino, Sylvie Chevret, Irène Kriegel, Patrick Thierry

Support Care Cancer· February 2006

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
T
Twenty-six novel EFNB1 mutations in familial and sporadic craniofrontonasal syndrome (CFNS).
Ilse Wieland, William Reardon, Sibylle Jakubiczka, Brunella Franco, Wolfram Kress, Patrick Thierry

Hum Mutat· August 2005

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis