E-LIB Suche - Ergebnisse für: Jacquinet, Adeline

1

Rapid Whole Genome Sequencing Diagnoses and Guides Treatmen..:

Lumaka, Aimé ; Fasquelle, Corinne ; Debray, Francois-Guillaume...
International Journal of Molecular Sciences. 24 (2023) 4 - p. 4003 , 2023

Link: https://doi.org/10.3390/..

2

Smith‐Magenis syndrome: Clinical and behavioral characteris..:

Rive Le Gouard, Nicolas ; Jacquinet, Adeline ; Ruaud, Lyse...
Clinical Genetics. 99 (2021) 4 - p. 519-528 , 2021

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

3

Oligo-astrocytoma in LZTR1-related Noonan syndrome:

Jacquinet, Adeline ; Bonnard, Adeline ; Capri, Yline...
European Journal of Medical Genetics. 63 (2020) 1 - p. 103617 , 2020

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

4

SCN3A‐Related Neurodevelopmental Disorder: A Spectrum of Ep..:

Zaman, Tariq ; Helbig, Katherine L. ; Clatot, Jérôme...
Annals of Neurology. 88 (2020) 2 - p. 348-362 , 2020

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

5

GREB1Lvariants in familial and sporadic hereditary urogenit..:

Jacquinet, Adeline ; Boujemla, Bouchra ; Fasquelle, Corinne...
Clinical Genetics. 98 (2020) 2 - p. 126-137 , 2020

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

6

Confirmation of the role of pathogenic SMAD6 variants in bi..:

Luyckx, Ilse ; MacCarrick, Gretchen ; Kempers, Marlies...
European Journal of Human Genetics. 27 (2019) 7 - p. 1044-1053 , 2019

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

7

Expanding the FANCO/RAD51C associated phenotype: Cleft lip ..:

Jacquinet, Adeline ; Brown, Lindsay ; Sawkins, Jessica...
European Journal of Medical Genetics. 61 (2018) 5 - p. 257-261 , 2018

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

8

Mutations of AKT3 are associated with a wide spectrum of de..:

Alcantara, Diana ; Timms, Andrew E ; Gripp, Karen...
Brain. 140 (2017) 10 - p. 2610-2622 , 2017

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

9

Etiologies of uterine malformations:

Jacquinet, Adeline ; Millar, Debra ; Lehman, Anna
American Journal of Medical Genetics Part A. 170 (2016) 8 - p. 2141-2172 , 2016

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

10

Erratum: Corrigendum: Mutations in the voltage-gated potass..:

Simons, Cas ; Rash, Lachlan D ; Crawford, Joanna...
Nature Genetics. 47 (2015) 3 - p. 304-304 , 2015

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

11

Mutations in the voltage-gated potassium channel gene KCNH1..:

Simons, Cas ; Rash, Lachlan D ; Crawford, Joanna...
Nature Genetics. 47 (2014) 1 - p. 73-77 , 2014

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

12

Neonatal progeroid variant of Marfan syndrome with congenit..:

Jacquinet, Adeline ; Verloes, Alain ; Callewaert, Bert...
European Journal of Medical Genetics. 57 (2014) 5 - p. 230-234 , 2014

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

13

Temple–Baraitser syndrome: A rare and possibly unrecognized..:

Jacquinet, Adeline ; Gérard, Marion ; Gabbett, Michael T....
American Journal of Medical Genetics Part A. 152A (2010) 9 - p. 2322-2326 , 2010

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

14

Rapid Whole Genome Sequencing Diagnoses and Guides Treatmen..:

Lumaka, Aimé ; Fasquelle, Corinne ; Debray, Francois-Guillaume...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9967120/. , 2023

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

15

Oligo-astrocytoma in LZTR1-related Noonan syndrome:

Jacquinet, Adeline ; Bonnard, Adeline ; Capri, Yline...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.ejmg.2019.01.007. , 2020

Link: https://hal.science/hal-..