E-LIB Suche - Ergebnisse für: Leheup, Bruno

1

Clinical spectrum of rare bone fragility disorders and resp..:

Charpié, Maëlle ; Brunelle, Perrine ; Baujat, Geneviève...
European Journal of Human Genetics. , 2024

2

Patient with a heterozygous pathogenic variant in CSNK2A1 g..:

Blanc, Albin ; Bonnet, Céline ; Wandzel, Marion...
American Journal of Medical Genetics Part A. 194 (2024) 9 - p. , 2024

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

3

Growth Hormone Dose Modulation and Final Height in Short Ch..:

Coutant, Régis ; Leheup, Bruno ; Nicolino, Marc.
Hormone Research in Paediatrics. 96 (2023) 5 - p. 495-508 , 2023

Link: https://doi.org/10.1159/..

4

MAST1-related mega-corpus-callosum syndrome with central hy..:

Sloboda, Natacha ; Renard, Emeline ; Lambert, Laetitia...
European Journal of Medical Genetics. 66 (2023) 11 - p. 104853 , 2023

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

5

Cross‐Talk between miRNAs from the Dlk1‐Dio3 Locus and Hist..:

Willekens, Jeremy ; Mosca, Pauline ; Burt‐Oberecken, Nathan...
Molecular Nutrition & Food Research. 67 (2023) 21 - p. , 2023

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

6

Microdeletions at 19p13.11p12 in five individuals with neur..:

Rieger, Melissa ; Moutton, Sébastien ; Verheyen, Sarah...
European Journal of Medical Genetics. 66 (2023) 1 - p. 104669 , 2023

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

7

Clinical utility of periodic reinterpretation of CNVs of un..:

Ravel, Jean-Marie ; Renaud, Mathilde ; Muller, Jean...
Genome Medicine. 15 (2023) 1 - p. , 2023

Link: https://doi.org/10.1186/..

8

Putative founder effect of Arg338* AP4M1 (SPG50) variant ca..:

Becker, Aurélie ; Felici, Charlotte ; Lambert, Laëtitia...
Clinical Genetics. 103 (2022) 3 - p. 346-351 , 2022

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

9

Regionally defined proteomic profiles of human cerebral tis..:

Melliou, Sofia ; Sangster, Kevin T. ; Kao, Jennifer...
Cell Reports. 39 (2022) 8 - p. 110846 , 2022

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

10

Atypical phenotype of a patient with Bardet–Biedl syndrome ..:

Sloboda, Natacha ; Lambert, Laetitia ; Ciorna, Viorica...
Molecular Genetics & Genomic Medicine. 10 (2022) 5 - p. , 2022

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

11

Fertility in McCune Albright syndrome female: A case study ..:

Agopiantz, Mikaël ; Sorlin, Arthur ; Vabres, Pierre...
Journal of Gynecology Obstetrics and Human Reproduction. 50 (2021) 9 - p. 102171 , 2021

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

12

MAN1B1-CDG: Three new individuals and associated biochemica..:

Sakhi, Soraya ; Cholet, Sophie ; Wehbi, Samer...
Molecular Genetics and Metabolism Reports. 28 (2021) - p. 100775 , 2021

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

13

Expanding the clinical spectrum of STIP1 homology and U-box..:

Ravel, Jean-Marie ; Benkirane, Mehdi ; Calmels, Nadège...
Journal of Neurology. 268 (2021) 5 - p. 1927-1937 , 2021

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

14

Dermatological opinions are imperative in ambulatory and ac..:

Moiny-Fouquet, Mathilde ; Guillaume, Claire ; Berlengi, Noémie...
Archives de Pédiatrie. 28 (2021) 5 - p. 417-421 , 2021

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

15

Severe Phenotype in Patients with Large Deletions of NF1:

Pacot, Laurence ; Vidaud, Dominique ; Sabbagh, Audrey...
Cancers. 13 (2021) 12 - p. 2963 , 2021

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