E-LIB Suche - Ergebnisse für: Francou, Bruno

1

Transthyretin amyloid cardiomyopathy in France: A cross-sec..:

Damy, Thibaud ; Donal, Erwan ; Lairez, Olivier...
Rare. 2 (2024) - p. 100021 , 2024

2

Primary mitochondrial disorders and mimics: Insights from a..:

Rouzier, Cécile ; Pion, Emmanuelle ; Chaussenot, Annabelle...
Annals of Clinical and Translational Neurology. 11 (2024) 6 - p. 1478-1491 , 2024

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

3

Detailed clinical, physiological and pathological phenotypi..:

Beauvais, Diane ; Labeyrie, Céline ; Cauquil, Cécile...
Journal of Neurology, Neurosurgery & Psychiatry. 95 (2023) 6 - p. 489-499 , 2023

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

4

Homozygous Ser-1 to Pro-1 mutation in parathyroid hormone i..:

Hanna, Patrick ; Khatri, Ashok ; Choi, Shawn...
Proceedings of the National Academy of Sciences. 120 (2023) 8 - p. , 2023

Link: https://doi.org/10.1073/..

5

Genotype-phenotype Description of Vitamin D–dependent Ricke..:

Méaux, Marie-Noëlle ; Harambat, Jérôme ; Rothenbuhler, Anya...
The Journal of Clinical Endocrinology & Metabolism. 108 (2022) 4 - p. 812-826 , 2022

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

6

Corrigendum to "ATP7B variant spectrum in a French pediatri..:

Couchonnal, Eduardo ; Bouchard, Sophie ; Sandahl, Thomas Damgaard...
European Journal of Medical Genetics. 65 (2022) 3 - p. 104453 , 2022

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

7

A National French Consensus on Gene List for the Diagnosis ..:

Benquey, Thibaut ; Pion, Emmanuelle ; Cossée, Mireille...
Genes. 13 (2022) 2 - p. 318 , 2022

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

8

Corrigendum to "ATP7B variant spectrum in a French pediatri..:

Couchonnal, Eduardo ; Bouchard, Sophie ; Sandahl, Thomas Damgaard...
European Journal of Medical Genetics. 64 (2021) 11 - p. 104341 , 2021

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

9

Leukoencephalopathy and conduction blocks in PLEKHG5-associ..:

Villar-Quiles, Rocio-Nur ; Le, Van Thuy ; Leonard-Louis, Sarah...
Neuromuscular Disorders. 31 (2021) 8 - p. 756-764 , 2021

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

10

Galaxy Is a Suitable Bioinformatics Platform for the Molecu..:

Chappell, Kenneth ; Francou, Bruno ; Habib, Christophe...
Clinical Chemistry. 68 (2021) 2 - p. 313-321 , 2021

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

11

A Novel Familial PHP1B Variant With Incomplete Loss of Meth..:

Hanna, Patrick ; Francou, Bruno ; Delemer, Brigitte..
The Journal of Clinical Endocrinology & Metabolism. 106 (2021) 9 - p. 2779-2787 , 2021

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

12

NTRK1 gene-related congenital insensitivity to pain with an..:

Echaniz-Laguna, Andoni ; Altuzarra, Cecilia ; Verloes, Alain...
neurogenetics. 22 (2021) 4 - p. 333-341 , 2021

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

13

Charcot–Marie–Tooth disease misdiagnosed as chronic inflamm..:

Hauw, Fabien ; Fargeot, Guillaume ; Adams, David...
European Journal of Neurology. 28 (2021) 9 - p. 2846-2854 , 2021

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

14

Hyperparathyroidism in Patients With X-Linked Hypophosphate..:

Lecoq, Anne-Lise ; Chaumet-Riffaud, Philippe ; Blanchard, Anne...
Journal of Bone and Mineral Research. 35 (2020) 7 - p. 1263-1273 , 2020

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

15

LRSAM1 variants and founder effect in French families with ..:

Peretti, Alessia ; Perie, Maud ; Vincent, Didier...
European Journal of Human Genetics. 27 (2019) 9 - p. 1406-1418 , 2019

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