E-LIB Suche - Ergebnisse für: Jedraszak, Guillaume

1

Prevalence and phenotypes associated with ALPK3 null varian..:

Ader, Flavie ; Jedraszak, Guillaume ; Janin, Alexandre...
Clinical Genetics. 105 (2024) 6 - p. 676-682 , 2024

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

2

STIM2 is involved in the regulation of apoptosis and the ce..:

Djordjevic, Stefan ; Itzykson, Raphaël ; Hague, Frédéric...
Molecular Oncology. 18 (2024) 6 - p. 1571-1592 , 2024

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

3

PB1769: STIM2, A CALCIUM CENSOR POTENTIALLY INVOLVED IN THE..:

Djordjevic, Stefan ; Lebon, Delphine ; Itzykson, Raphael...
HemaSphere. 7 (2023) S3 - p. e22916e1 , 2023

Link: https://doi.org/10.1097/..

4

A ZP1 gene mutation in a patient with empty follicle syndro..:

Pujalte, Mathilde ; Camo, Maïté ; Celton, Noémie...
European Journal of Obstetrics & Gynecology and Reproductive Biology. 280 (2023) - p. 193-197 , 2023

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

5

Myocardial infarction in women under 50: Possible implicati..:

Soudet, Simon ; Jedraszak, Guillaume ; Drouet, Ludovic...
Archives of Cardiovascular Diseases. 116 (2023) 2 - p. 106-108 , 2023

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

6

Cat eye syndrome: Clinical, cytogenetics and familial findi..:

Jedraszak, Guillaume ; Jobic, Florence ; Receveur, Aline...
American Journal of Medical Genetics Part A. 194 (2023) 4 - p. , 2023

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

7

Antenatal ultrasound features of isolated recurrent copy nu..:

Courdier, Cécile ; Boudjarane, John ; Malan, Valérie...
Prenatal Diagnosis. 43 (2023) 6 - p. 734-745 , 2023

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

8

Use of ranolazine as rescue therapy in a patient with Timot..:

Hermida, Alexis ; Jedraszak, Guillaume ; Kubala, Maciej...
Revista Española de Cardiología (English Edition). 75 (2022) 5 - p. 447-448 , 2022

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

9

The EPIGENE network: A French initiative to harmonize and i..:

Arnaud, Lionel ; Abi Warde, Marie-Thérèse ; Barcia, Giulia...
European Journal of Medical Genetics. 65 (2022) 3 - p. 104445 , 2022

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

10

HDAC6 regulates human erythroid differentiation through mod..:

Vong, Pascal ; Messaoudi, Kahia ; Jankovsky, Nicolas...
Journal of Cellular and Molecular Medicine. 27 (2022) 2 - p. 174-188 , 2022

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

11

Long-term follow-up of a patient with type 2 Timothy syndro..:

Hermida, Alexis ; Jedraszak, Guillaume ; Kubala, Maciej...
Gene. 777 (2021) - p. 145465 , 2021

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

12

Kleefstra syndrome: Recurrence in siblings due to a paterna..:

Jobic, Florence ; Lacot‐Leriche, Emilie ; Piton, Amélie...
American Journal of Medical Genetics Part A. 185 (2021) 12 - p. 3877-3883 , 2021

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

13

Optical genome mapping, a promising alternative to gold sta..:

Lestringant, Valentin ; Duployez, Nicolas ; Penther, Dominique...
Genes, Chromosomes and Cancer. 60 (2021) 10 - p. 657-667 , 2021

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

14

Prenatal diagnosis of femoral facial syndrome: Three case r..:

Luisin, Marion ; Chevreau, Julien ; Klein, Céline...
American Journal of Medical Genetics Part A. 173 (2017) 11 - p. 2923-2946 , 2017

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

15

New intragenic rearrangements in non‐Finnish mulibrey nanis:

Jobic, Florence ; Morin, Gilles ; Vincent‐Delorme, Catherine...
American Journal of Medical Genetics Part A. 173 (2017) 10 - p. 2782-2788 , 2017

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