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Brioude, Frédéric
154  results:
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1

Ciliopathy due to POC1A deficiency: clinical and metabolic ..:

Perge, Kevin ; Capel, Emilie ; Villanueva, Carine...
European Journal of Endocrinology.  190 (2024)  2 - p. 151-164 , 2024
Link: https://doi.org/10.1093/..
 
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2

HDR syndrome: Large cohort and systematic review:

Rive Le Gouard, Nicolas ; Lafond‐Rive, Valentin ; Jonard, Laurence...
Clinical Genetics.  , 2024
Link: https://doi.org/10.1111/..
 
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3

First step towards a consensus strategy for multi-locus dia..:

Mackay, Deborah ; Bliek, Jet ; Kagami, Masayo...
Clinical Epigenetics.  14 (2022)  1 - p. , 2022
Link: https://doi.org/10.1186/..
 
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4

IGF2: Development, Genetic and Epigenetic Abnormalities:

Sélénou, Céline ; Brioude, Frédéric ; Giabicani, Eloïse..
Cells.  11 (2022)  12 - p. 1886 , 2022
Link: https://doi.org/10.3390/..
 
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5

Low Maternal DLK1 Levels at 26 Weeks Is Associated With Sma..:

Pham, Aurelie ; Mitanchez, Delphine ; Forhan, Anne...
Frontiers in Endocrinology.  13 (2022)  - p. , 2022
Link: https://doi.org/10.3389/..
 
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6

Fertility preservation in young men with Klinefelter syndro..:

Ly, Anna ; Sermondade, Nathalie ; Brioude, Frederic...
Journal of Gynecology Obstetrics and Human Reproduction.  50 (2021)  9 - p. 102177 , 2021
Link: https://doi.org/10.1016/..
 
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7

Screening of patients born small for gestational age with t..:

Pham, Aurélie ; Sobrier, Marie-Laure ; Giabicani, Eloïse...
European Journal of Human Genetics.  29 (2021)  12 - p. 1756-1761 , 2021
Link: https://doi.org/10.1038/..
 
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8

Sleep disordered breathing in Silver−Russell syndrome patie..:

Giabicani, Éloïse ; Boulé, Michèle ; Aubertin, Guillaume...
Sleep Medicine.  64 (2019)  - p. 23-29 , 2019
Link: https://doi.org/10.1016/..
 
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9

Roles of Type 1 Insulin-Like Growth Factor (IGF) Receptor a..:

Giabicani, Eloïse ; Chantot-Bastaraud, Sandra ; Bonnard, Adeline...
Frontiers in Endocrinology.  10 (2019)  - p. , 2019
Link: https://doi.org/10.3389/..
 
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10

Discrepant molecular and clinical diagnoses in Beckwith-Wie..:

Mackay, Deborah J.G. ; Bliek, Jet ; Lombardi, Maria Paola...
Genetics Research.  101 (2019)  - p. , 2019
Link: https://doi.org/10.1017/..
 
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11

CUGC for Simpson-Golabi-Behmel syndrome (SGBS):

Vuillaume, Marie-Laure ; Moizard, Marie-Pierre ; Baumer, Alessandra...
European Journal of Human Genetics.  27 (2019)  4 - p. 663-668 , 2019
Link: https://doi.org/10.1038/..
 
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12

Contribution of functionally assessedGHRHRmutations to idio..:

Cohen, Enzo ; Belkacem, Sabrina ; Fedala, Soumeya...
Human Mutation.  40 (2019)  11 - p. 2033-2043 , 2019
Link: https://doi.org/10.1002/..
 
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13

Mutation update for theGPC3gene involved in Simpson-Golabi-..:

Vuillaume, Marie-Laure ; Moizard, Marie-Pierre ; Rossignol, Sylvie...
Human Mutation.  39 (2018)  6 - p. 790-805 , 2018
Link: https://doi.org/10.1002/..
 
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14

Prediction of Neonatal Hyperthyroidism:

Banigé, Maïa ; Polak, Michel ; Luton, Dominique...
The Journal of Pediatrics.  197 (2018)  - p. 249-254.e1 , 2018
Link: https://doi.org/10.1016/..
 
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15

Diagnosis and management of postnatal fetal growth restrict..:

Giabicani, Eloïse ; Pham, Aurélie ; Brioude, Frédéric..
Best Practice & Research Clinical Endocrinology & Metabolism.  32 (2018)  4 - p. 523-534 , 2018
Link: https://doi.org/10.1016/..
 
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