E-LIB Suche - Ergebnisse für: Fradin, Mélanie

1

Loss-of-function variants affecting the STAGA complex compo..:

Kopp, Johannes ; Koch, Leonard A. ; Lyubenova, Hristiana...
Human Genetics. 143 (2024) 5 - p. 683-694 , 2024

2

Lessons from two series by physicians and caregivers' self‐..:

Ruault, Valentin ; Burger, Pauline ; Gradels‐Hauguel, Johanna...
Molecular Genetics & Genomic Medicine. 12 (2024) 1 - p. , 2024

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

3

Expansion of the neurodevelopmental phenotype of individual..:

Paulet, Alix ; Bennett-Ness, Cavan ; Ageorges, Faustine...
European Journal of Human Genetics. 32 (2024) 9 - p. 1144-1149 , 2024

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

4

Novel variant in LRP6 associated with unusual and severe cl..:

Previdi, Anaïk ; Dubourg, Christèle ; Cormier Daire, Valérie..
Clinical Genetics. 105 (2024) 6 - p. 666-670 , 2024

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

5

Correction: Expansion of the neurodevelopmental phenotype o..:

Paulet, Alix ; Bennett-Ness, Cavan ; Ageorges, Faustine...
European Journal of Human Genetics. 32 (2024) 9 - p. 1191-1191 , 2024

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

6

Prenatal diagnosis by trio exome sequencing in fetuses with..:

Tran Mau-Them, Frédéric ; Delanne, Julian ; Denommé-Pichon, Anne-Sophie...
Frontiers in Genetics. 14 (2023) - p. , 2023

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

7

Stepwise use of genomics and transcriptomics technologies i..:

Colin, Estelle ; Duffourd, Yannis ; Chevarin, Martin...
Frontiers in Cell and Developmental Biology. 11 (2023) - p. , 2023

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

8

Growth charts in DYRK1A syndrome:

Lanvin, Pierre‐Louis ; Goronflot, Thomas ; Isidor, Bertrand...
American Journal of Medical Genetics Part A. 194 (2023) 1 - p. 9-16 , 2023

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

9

Discovering a new part of the phenotypic spectrum of Coffin..:

van der Sluijs, Pleuntje J. ; Joosten, Marieke ; Alby, Caroline...
Genetics in Medicine. 25 (2023) 2 - p. 100004 , 2023

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

10

The Severity of Congenital Hypothyroidism With Gland-In-Sit..:

Levaillant, Lucie ; Bouhours-Nouet, Natacha ; Illouz, Frédéric...
The Journal of Clinical Endocrinology & Metabolism. 108 (2023) 9 - p. e779-e788 , 2023

Link: https://doi.org/10.1210/..

11

Phénotype prénatal des microduplications 22q11 : descriptio..:

Mary, Laura ; Lavillaureix, Alinoë ; Perrot, Adélie...
Morphologie. 106 (2022) 354 - p. S19 , 2022

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

12

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/..

13

DNA methylation episignature in Gabriele-de Vries syndrome:

Cherik, Florian ; Reilly, Jack ; Kerkhof, Jennifer...
Genetics in Medicine. 24 (2022) 4 - p. 905-914 , 2022

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

14

Discovering a new part of the phenotypic spectrum of Coffin..:

van der Sluijs, Pleuntje J. ; Joosten, Marieke ; Alby, Caroline...
Genetics in Medicine. 24 (2022) 8 - p. 1753-1760 , 2022

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

15

Prenatal phenotype of 22q11 micro-duplications: A systemati..:

Mary, Laura ; Lavillaureix, Alinoë ; Perrot, Adélie...
European Journal of Medical Genetics. 65 (2022) 2 - p. 104422 , 2022

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