E-LIB Suche - Ergebnisse für: Khau Van Kien, Philippe

1

Parental mosaicism in Marfan and Ehlers–Danlos syndromes an..:

Chesneau, Bertrand ; Plancke, Aurélie ; Rolland, Guillaume...
European Journal of Human Genetics. 29 (2021) 5 - p. 771-779 , 2021

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

2

A +3 variant at a donor splice site leads to a skipping of ..:

Chesneau, Bertrand ; Plancke, Aurélie ; Rolland, Guillaume...
Molecular Genetics & Genomic Medicine. 9 (2021) 11 - p. , 2021

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

3

Terminal 6q deletions cause brain malformations, a phenotyp..:

Lesieur‐Sebellin, Marion ; Till, Marianne ; Khau Van Kien, Philippe...
Prenatal Diagnosis. 42 (2021) 1 - p. 118-135 , 2021

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

4

Single Circulating Fetal Trophoblastic Cells Eligible for N..:

Cayrefourcq, Laure ; Vincent, Marie-Claire ; Pierredon, Sandra...
Scientific Reports. 10 (2020) 1 - p. , 2020

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

5

Clinical and genetic data of 22 new patients with SMAD3 pat..:

Chesneau, Bertrand ; Edouard, Thomas ; Dulac, Yves...
Molecular Genetics & Genomic Medicine. 8 (2020) 5 - p. , 2020

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

6

NR2F1 regulates regional progenitor dynamics in the mouse n..:

Bertacchi, Michele ; Romano, Anna Lisa ; Loubat, Agnès...
The EMBO Journal. 39 (2020) 13 - p. , 2020

Link: https://doi.org/10.15252..

7

Multiplex targeted high‐throughput sequencing in a series o..:

Jourdain, Anne‐Sophie ; Petit, Florence ; Odou, Marie‐Françoise...
Human Mutation. 41 (2019) 1 - p. 222-239 , 2019

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

8

Bardet‐Biedl syndrome: Antenatal presentation of forty‐five..:

Mary, Laura ; Chennen, Kirsley ; Stoetzel, Corinne...
Clinical Genetics. 95 (2019) 3 - p. 384-397 , 2019

Link: https://doi.org/10.1111/..

9

Inflammatory facioscapulohumeral muscular dystrophy type 2 ..:

Renard, Dimitri ; Taieb, Guillaume ; Garibaldi, Matteo...
American Journal of Medical Genetics Part A. 176 (2018) 8 - p. 1760-1763 , 2018

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

10

ATP6V0A2‐related cutis laxa in 10 novel patients: Focus on ..:

Beyens, Aude ; Moreno‐Artero, Ester ; Bodemer, Christine...
Experimental Dermatology. 28 (2018) 10 - p. 1142-1145 , 2018

Link: https://doi.org/10.1111/..

11

Clinical and molecular findings in 39 patients with KBG syn..:

Goldenberg, Alice ; Riccardi, Florence ; Tessier, Aude...
American Journal of Medical Genetics Part A. 170 (2016) 11 - p. 2847-2859 , 2016

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

12

A homozygous PAX3 mutation leading to severe presentation o..:

Mousty, Eve ; Issa, Sarah ; Grosjean, Frédéric...
Prenatal Diagnosis. 35 (2015) 13 - p. 1379-1381 , 2015

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

13

Muscle and Bone Impairment in Children With Marfan Syndrome..:

Haine, Elsa ; Salles, Jean-Pierre ; Khau Van Kien, Philippe...
Journal of Bone and Mineral Research. 30 (2015) 8 - p. 1369-1376 , 2015

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

14

Lack ofTEKGene Mutation in Patients with Cutaneomucosal Ven..:

Brahami, Nabila ; Aribi, Mourad ; Sari, Badr-Eddine...
Genetics Research International. 2013 (2013) - p. 1-7 , 2013

Link: https://doi.org/10.1155/..

15

Dissecting the Structure and Mechanism of a Complex Duplica..:

Ishmukhametova, Aliya ; Chen, Jian-Min ; Bernard, Rafaëlle...
Human Mutation. 34 (2013) 8 - p. 1080-1084 , 2013

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