E-LIB Suche - Ergebnisse für: Lefebvre, Mathilde

1

Extending the clinical spectrum of X-linked Tonne-Kalscheue..:

Cuinat, Silvestre ; Quélin, Chloé ; Effray, Claire...
Journal of Medical Genetics. , 2024

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

2

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/..

3

Clinical and functional heterogeneity associated with the d..:

Caron, Véronique ; Chassaing, Nicolas ; Ragge, Nicola...
Genetics in Medicine. 25 (2023) 8 - p. 100856 , 2023

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

4

Assortative mating and parental genetic relatedness contrib..:

Smolen, Corrine ; Jensen, Matthew ; Dyer, Lisa...
The American Journal of Human Genetics. 110 (2023) 12 - p. 2015-2028 , 2023

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

5

First reports of fetal SMARCC1 related hydrocephalus:

Rive Le Gouard, Nicolas ; Nicolle, Romain ; Lefebvre, Mathilde...
European Journal of Medical Genetics. 66 (2023) 8 - p. 104797 , 2023

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

6

Same performance of exome sequencing before and after fetal..:

Bourgon, Nicolas ; Garde, Aurore ; Bruel, Ange-Line...
European Journal of Human Genetics. 30 (2022) 8 - p. 967-975 , 2022

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

7

Targeted next‐generation sequencing in a large series of fe..:

Jordan, Penelope ; Dorval, Guillaume ; Arrondel, Christelle...
Human Mutation. 43 (2022) 3 - p. 347-361 , 2022

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

8

In mice and humans, brain microvascular contractility matur..:

Slaoui, Leila ; Gilbert, Alice ; Rancillac, Armelle...
Brain Structure and Function. , 2022

Link: https://doi.org/10.1007/..

9

Prenatal presentation of multiple anomalies associated with..:

Slavotinek, Anne ; Lefebvre, Mathilde ; Brehin, Anne-Claire...
European Journal of Medical Genetics. 65 (2022) 2 - p. 104407 , 2022

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

10

Tonate Virus and Fetal Abnormalities, French Guiana, 2019:

Lambert, Veronique ; Enfissi, Antoine ; Lefebvre, Mathilde...
Emerging Infectious Diseases. 28 (2022) 2 - p. 445-448 , 2022

Link: https://doi.org/10.3201/..

11

Description of a late miscarriage case at 16 Weeks of Gesta..:

Michel, Anne-Sophie ; De Logiviere, Victoire ; Schnuriger, Aurélie...
Journal of Gynecology Obstetrics and Human Reproduction. 50 (2021) 3 - p. 102064 , 2021

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

12

Prenatal exome sequencing in 65 fetuses with abnormality of..:

Heide, Solveig ; Spentchian, Myrtille ; Valence, Stéphanie...
Genetics in Medicine. 22 (2020) 11 - p. 1887-1891 , 2020

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

13

Vingt ans après:

Formoso, Bernard ; Le Failler, Philippe ; Lefebvre, Mathilde
Moussons. , 2019

Link: https://doi.org/10.4000/..

14

Prenatal presentation of Aicardi‐Goutières syndrome: Nonspe..:

Bourgon, Nicolas ; Lefebvre, Mathilde ; Kuentz, Paul...
Prenatal Diagnosis. 39 (2019) 9 - p. 806-810 , 2019

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

15

2.5 years' experience of GeneMatcher data-sharing: a powerf..:

Bruel, Ange-Line ; Vitobello, Antonio ; Mau-Them, Frédéric Tran...
Genetics in Medicine. 21 (2019) 7 - p. 1657-1661 , 2019

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