E-LIB Suche - Ergebnisse für: Thauvin, Stéphanie

1

Dominant negative mutation in oxalate transporterSLC26A6ass..:

Cornière, Nicolas ; Thomson, R Brent ; Thauvin, Stéphanie...
Journal of Medical Genetics. 59 (2022) 11 - p. 1035-1043 , 2022

Link: https://doi.org/10.1136/..

2

Determining chloride content profiles in concrete using an ..:

Fares, Milia ; Villain, Géraldine ; Bonnet, Stéphanie...
Cement and Concrete Composites. 94 (2018) - p. 315-326 , 2018

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

3

KLHL3 mutations cause familial hyperkalemic hypertension by..:

International Consortium for Blood Pressure (ICBP) ; Louis-Dit-Picard, Hélène ; Barc, Julien...
Nature Genetics. 44 (2012) 4 - p. 456-460 , 2012

Link: https://doi.org/10.1038/..

4

Erratum: KLHL3 mutations cause familial hyperkalemic hypert..:

Louis-Dit-Picard, Hélène ; Barc, Julien ; Trujillano, Daniel...
Nature Genetics. 44 (2012) 5 - p. 609-609 , 2012

Link: https://doi.org/10.1038/..

5

TRAPPC6B biallelic variants cause a neurodevelopmental diso..:

Almousa, Hashem ; Lewis, Sara A ; Bakhtiari, Somayeh...
Brain. 147 (2023) 1 - p. 311-324 , 2023

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

6

The Economic, Medical and Psychosocial Consequences of Whol..:

Lejeune, Catherine ; Robert-Viard, Charley ; Meunier-Beillard, Nicolas...
Frontiers in Genetics. 13 (2022) - p. , 2022

Link: https://doi.org/10.3389/..

7

Neutralization of HSF1 in cells from PIK3CA-related overgro..:

Da Costa, Romain ; De Almeida, Steven ; Chevarin, Martin...
Biochemical and Biophysical Research Communications. 530 (2020) 3 - p. 520-526 , 2020

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

8

Intragenic FMR1 disease-causing variants: a significant mut..:

Quartier, Angélique ; Poquet, Hélène ; Gilbert-Dussardier, Brigitte...
European Journal of Human Genetics. 25 (2017) 4 - p. 423-431 , 2017

Link: https://doi.org/10.1038/..

9

TMEM107 recruits ciliopathy proteins to subdomains of the c..:

Lambacher, Nils J. ; Bruel, Ange-Line ; van Dam, Teunis J. P....
Nature Cell Biology. 18 (2015) 1 - p. 122-131 , 2015

Link: https://doi.org/10.1038/..

10

Tubulopathy and pancytopaenia with normal pancreatic functi..:

Atale, Agnès ; Bonneau-Amati, Patrizia ; Rötig, Agnès...
European Journal of Medical Genetics. 52 (2009) 1 - p. 23-26 , 2009

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

11

Spondylocostal dysostosis, anal and genitourinary malformat..:

Thauvin-Robinet, Christel ; Laurent, Nicole ; Rousseau, Thierry...
European Journal of Medical Genetics. 50 (2007) 1 - p. 85-91 , 2007

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

12

A new osteochondrodysplasia with severe osteopenia, preaxia..:

Colombani, Marina ; Laurent, Nicole ; Le Merrer, Martine...
Prenatal Diagnosis. 26 (2006) 12 - p. 1151-1155 , 2006

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

13

Prenatal diagnosis of Juberg-Hayward syndrome:

Couvreur-Lionnais, Stéphanie ; Rousseau, Thierry ; Laurent, Nicole...
Prenatal Diagnosis. 25 (2005) 2 - p. 172-175 , 2005

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

14

A Solve-RD ClinVar-based reanalysis of 1522 index cases fro..:

Denommé-Pichon, Anne-Sophie ; Matalonga, Leslie ; de Boer, Elke...
https://doi.org/10.1016/j.gim.2023.100018. , 2023

Link: http://orbilu.uni.lu/han..

15

The clinical and molecular spectrum of the KDM6B-related ne..:

Rots, Dmitrijs ; Jakub, Taryn E ; Keung, Crystal...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10257005/. , 2023

Link: http://www.ncbi.nlm.nih...