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Colson, Cindy D
114  results:
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1

Expanded phenotypic spectrum of UDP‐glucose‐6‐dehydrogenase..:

Bordeneuve‐Plante, Pauline ; Boussion, Simon ; Rama, Mélanie...
American Journal of Medical Genetics Part A.  , 2024
Link: https://doi.org/10.1002/..
 
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2

Intimate Partner Violence: Piloting an E-Module for Pediatr..:

Howard, Mary Beth ; Fornari, Marci J. ; Colson, Cindy D...
Clinical Pediatrics.  , 2024
Link: https://doi.org/10.1177/..
 
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3

Cat eye syndrome: Clinical, cytogenetics and familial findi..:

Jedraszak, Guillaume ; Jobic, Florence ; Receveur, Aline...
American Journal of Medical Genetics Part A.  194 (2023)  4 - p. , 2023
Link: https://doi.org/10.1002/..
 
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4

Delineation of the adult phenotype of Coffin–Siris syndrome..:

Schmetz, Ariane ; Lüdecke, Hermann-Josef ; Surowy, Harald...
Human Genetics.  143 (2023)  1 - p. 71-84 , 2023
Link: https://doi.org/10.1007/..
 
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5

Prenatal diagnosis by trio exome sequencing in fetuses with..:

Tran Mau-Them, Frédéric ; Delanne, Julian ; Denommé-Pichon, Anne-Sophie...
Frontiers in Genetics.  14 (2023)  - p. , 2023
Link: https://doi.org/10.3389/..
 
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6

Evaluation of Missing Prehospital Physiological Values in I..:

Sullivan, Travis M. ; Milestone, Zachary P. ; Colson, Cindy D....
Journal of Surgical Research.  283 (2023)  - p. 305-312 , 2023
Link: https://doi.org/10.1016/..
 
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7

Phenotypic and genotypic characterization of 1q21.1 copy nu..:

Bourgois, Alexia ; Bizaoui, Varoona ; Colson, Cindy...
American Journal of Medical Genetics Part A.  194 (2023)  3 - p. , 2023
Link: https://doi.org/10.1002/..
 
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8

56 Evaluation of a Smartphone Application as a Method for C..:

Colson, Cindy D ; Alberto, Emily A ; Milestone, Zachary P...
Journal of Burn Care & Research.  43 (2022)  Supplement_1 - p. S38-S39 , 2022
Link: https://doi.org/10.1093/..
 
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9

Atteintes articulaires du syndrome de Noonan. Étude descrip..:

Le Quellec, Aurore ; Edouard, Thomas ; Audebert-Bellanger, Séverine...
Revue du Rhumatisme.  89 (2022)  5 - p. 511-516 , 2022
Link: https://doi.org/10.1016/..
 
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10

Joint involvement in Noonan syndrome. A retrospective paedi..:

Le Quellec, Aurore ; Edouard, Thomas ; Audebert-Bellanger, Séverine...
Joint Bone Spine.  89 (2022)  1 - p. 105270 , 2022
Link: https://doi.org/10.1016/..
 
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11

Neurodevelopmental phenotype in 36 new patients with 8p inv..:

Vibert, Roseline ; Mignot, Cyril ; Keren, Boris...
Clinical Genetics.  101 (2021)  3 - p. 307-316 , 2021
Link: https://doi.org/10.1111/..
 
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12

Using Social Media for the Prevention of Pediatric Burn Inj..:

Batra, Nikita ; Colson, Cindy D ; Alberto, Emily C.
JMIR Formative Research.  5 (2021)  7 - p. e23242 , 2021
Link: https://doi.org/10.2196/..
 
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13

Clinical and molecular description of 19 patients with GATA..:

Vera, Gabriella ; Sorlin, Arthur ; Delplancq, Geoffroy...
European Journal of Medical Genetics.  63 (2020)  10 - p. 104004 , 2020
Link: https://doi.org/10.1016/..
 
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14

Evolutionary conserved NSL complex/BRD4 axis controls trans..:

Gaub, Aline ; Sheikh, Bilal N. ; Basilicata, M. Felicia...
Nature Communications.  11 (2020)  1 - p. , 2020
Link: https://doi.org/10.1038/..
 
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15

Multiplex targeted high‐throughput sequencing in a series o..:

Jourdain, Anne‐Sophie ; Petit, Florence ; Odou, Marie‐Françoise...
Human Mutation.  41 (2019)  1 - p. 222-239 , 2019
Link: https://doi.org/10.1002/..
 
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