E-LIB Suche - Ergebnisse für: Porquet‐Bordes, Valérie

1

Clinical heterogeneity of NADSYN1‐associated VCRL syndrome:

Aubert‐Mucca, Marion ; Janel, Caroline ; Porquet‐Bordes, Valérie...
Clinical Genetics. 104 (2023) 1 - p. 114-120 , 2023

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

2

Hypophosphatasia: A Case of Two Patients With Spinal Cord C..:

Laroche, Michel ; Couture, Guillaume ; Faruch, Marie...
JBMR Plus. 5 (2021) 4 - p. , 2021

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

3

Orofacial Features, Oral Health-Related Quality of Life, an..:

Broutin, Alice ; Salles, Jean-Pierre ; Porquet-Bordes, Valérie...
Children. 11 (2024) 8 - p. 900 , 2024

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

4

Obesity, Overweight, and Pituitary Stalk Interruption Syndr..:

Nannette, Gaëlle ; Bar, Céline ; Diene, Gwenaëlle...
The Journal of Clinical Endocrinology & Metabolism. 108 (2022) 2 - p. 323-330 , 2022

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

5

X-linked hypophosphatemia, obesity and arterial hypertensio..:

Bloudeau, Louisa ; Linglart, Agnès ; Flammier, Sacha...
Pediatric Nephrology. 38 (2022) 3 - p. 697-704 , 2022

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

6

Diagnostic yield of bone fragility gene panel sequencing in..:

Rouleau, Coline ; Malorie, Margaux ; Collet, Corinne...
Bone Reports. 16 (2022) - p. 101176 , 2022

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

7

Osteogenesis Imperfecta: characterization of fractures duri..:

Koumakis, Eugénie ; Cormier-Daire, Valérie ; Dellal, Azeddine...
Orphanet Journal of Rare Diseases. 17 (2022) 1 - p. , 2022

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

8

Utility of genetic testing for prenatal presentations of hy..:

Sperelakis-Beedham, Brian ; Taillandier, Agnès ; Domingues, Christelle...
Molecular Genetics and Metabolism. 132 (2021) 3 - p. 198-203 , 2021

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

9

A standard set of outcome measures for the comprehensive as..:

Nijhuis, Wouter ; Franken, Anton ; Ayers, Kara...
Orphanet Journal of Rare Diseases. 16 (2021) 1 - p. , 2021

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

10

Prenatal features and neonatal management of severe hyperpa..:

Aubert-Mucca, Marion ; Dubucs, Charlotte ; Groussolles, Marion...
Bone Reports. 15 (2021) - p. 101097 , 2021

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

11

Genetic analysis of adults heterozygous for ALPL mutations:

Taillandier, Agnès ; Domingues, Christelle ; Dufour, Annika...
Journal of Bone and Mineral Metabolism. 36 (2017) 6 - p. 723-733 , 2017

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

12

Molecular diagnosis of hypophosphatasia and differential di..:

Taillandier, Agnès ; Domingues, Christelle ; De Cazanove, Clémence...
Molecular Genetics and Metabolism. 116 (2015) 3 - p. 215-220 , 2015

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

13

Osteogenesis Imperfecta: characterization of fractures duri..:

Koumakis, Eugénie ; Cormier-Daire, Valérie ; Dellal, Azeddine...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8796450/. , 2022

Link: http://www.ncbi.nlm.nih...

14

Osteogenesis Imperfecta: characterization of fractures duri..:

Eugénie Koumakis ; Valérie Cormier-Daire ; Azeddine Dellal...
https://doi.org/10.1186/s13023-021-02148-x. , 2022

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

15

Diagnostic yield of bone fragility gene panel sequencing in..:

Rouleau, Coline ; Malorie, Margaux ; Collet, Corinne...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8892094/. , 2022

Link: http://www.ncbi.nlm.nih...