E-LIB Suche - Ergebnisse für: Fradin, Melanie

1

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

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. , 2024

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

4

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

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

5

Correction: Expansion of the neurodevelopmental phenotype o..:

Paulet, Alix ; Bennett-Ness, Cavan ; Ageorges, Faustine...
European Journal of Human Genetics. , 2024

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

6

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/..

7

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/..

8

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/..

9

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/..

10

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/..

11

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/..

12

Genetic landscape of a large cohort of Primary Ovarian Insu..:

Heddar, Abdelkader ; Ogur, Cagri ; Da Costa, Sabrina...
eBioMedicine. 84 (2022) - p. 104246 , 2022

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

13

Clinical Utility of a Unique Genome-Wide DNA Methylation Si..:

Foroutan, Aidin ; Haghshenas, Sadegheh ; Bhai, Pratibha...
International Journal of Molecular Sciences. 23 (2022) 3 - p. 1815 , 2022

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

14

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/..

15

Publisher Correction: Discovery of a genetic module essenti..:

Szenker-Ravi, Emmanuelle ; Ott, Tim ; Khatoo, Muznah...
Nature Genetics. 54 (2022) 6 - p. 906-906 , 2022

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