E-LIB Suche - Ergebnisse für: Faivre, Laurence

1

Time to diagnosis and determinants of diagnostic delays of ..:

Faye, Fatoumata ; Crocione, Claudia ; Anido de Peña, Roberta...
European Journal of Human Genetics. , 2024

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

2

The detection of a strong episignature for Chung–Jansen syn..:

Vos, Niels ; Haghshenas, Sadegheh ; van der Laan, Liselot...
Human Genetics. , 2024

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

3

Allelic heterogeneity in a patient with postzygotic MTOR‐re..:

Engel, Camille ; Chevarin, Martin ; Piard, Juliette...
Clinical Genetics. 105 (2024) 5 - p. 581-583 , 2024

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

4

Penetrance, variable expressivity and monogenic neurodevelo..:

de Masfrand, Servane ; Cogné, Benjamin ; Nizon, Mathilde...
European Journal of Medical Genetics. 69 (2024) - p. 104932 , 2024

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

5

Early prenatal diagnosis of causative homozygous variants i..:

Favier, Maud ; Delanne, Julian ; Gorincour, Guillaume...
Prenatal Diagnosis. 44 (2024) 3 - p. 352-356 , 2024

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

6

Variants in ZFX are associated with an X-linked neurodevelo..:

Shepherdson, James L. ; Hutchison, Katie ; Don, Dilan Wellalage...
The American Journal of Human Genetics. 111 (2024) 3 - p. 487-508 , 2024

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

7

DNA methylation episignature and comparative epigenomic pro..:

van der Laan, Liselot ; Lauffer, Peter ; Rooney, Kathleen...
Human Genetics and Genomics Advances. 5 (2024) 3 - p. 100289 , 2024

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

8

DISP1 deficiency: Monoallelic and biallelic variants cause ..:

Lavillaureix, Alinoë ; Rollier, Paul ; Kim, Artem...
Genetics in Medicine. 26 (2024) 7 - p. 101126 , 2024

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

9

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/..

10

FOXG1 variants can be associated with milder phenotypes tha..:

Mazel, Benoit ; Delanne, Julian ; Garde, Aurore...
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics. , 2024

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

11

A recurrent missense variant in the E3 ubiquitin ligase sub..:

Lecoquierre, François ; Punt, A. Mattijs ; Ebstein, Frédéric...
Genetics in Medicine. 26 (2024) 6 - p. 101119 , 2024

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

12

Further description of two individuals with de novo p.(Glu1..:

Malbos, Marlène ; Wakeling, Emma ; Gautier, Thierry...
Clinical Genetics. 105 (2024) 5 - p. 555-560 , 2024

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

13

Clinical phenotype of the PIK3R1-related vascular overgrowt..:

Kuentz, Paul ; Engel, Camille ; Laeng, Mathieu...
British Journal of Dermatology. , 2024

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

14

Confirmation and expansion of the phenotype of the TCEAL1-r..:

Albuainain, Fatimah ; Shi, Yuwei ; Lor-Zade, Sarah...
European Journal of Human Genetics. , 2024

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

15

MYH7 p.(Arg1712Gln) is pathogenic founder variant causing h..:

Marsili, Luisa ; van Lint, Freyja H. M. ; Russo, Francesco...
Netherlands Heart Journal. 31 (2023) 7-8 - p. 300-307 , 2023

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