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1 . Academic Journal
GenIA, the Genetic Immunology Advisor database for inborn errors of immunity
저자
by
Caballero-Oteyza, Andrés
;
Crisponi, Laura
;
Peng, Xiao P.
;
Yauy, Kevin
;
Volpi, Stefano
, et al.
소스
In
The Journal of Allergy and Clinical Immunology
March 2024 153(3):831-843
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7 . Academic Journal
Clinico-biological refinement of BCL11B-related disorder and identification of an episignature: A series of 20 unreported individuals
저자
by
Sabbagh, Quentin
;
Haghshenas, Sadegheh
;
Piard, Juliette
;
Trouvé, Chloé
;
Amiel, Jeanne
, et al.
소스
In
Genetics in Medicine
January 2024 26(1)
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7 . Academic Journal
Evaluating the Transition from Targeted to Exome Sequencing: A Guide for Clinical Laboratories.
저자
by
Yauy, Kevin
;
Van Goethem, Charles
;
Pégeot, Henri
;
Baux, David
;
Guignard, Thomas
, et al.
소스
International Journal of Molecular Sciences
. Apr2023, Vol. 24 Issue 8, p7330. 12p.
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7 . Academic Journal
Exome sequencing as a first-tier test for copy number variant detection: retrospective evaluation and prospective screening in 2418 cases.
저자
by
Testard, Quentin
;
Vanhoye, Xavier
;
Yauy, Kevin
;
Naud, Marie-Emmanuelle
;
Vieville, Gaelle
, et al.
소스
Journal of Medical Genetics; Dec2022, Vol. 59 Issue 12, p1234-1240, 7p
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7 . Academic Journal
Predominance of BRCA2 Mutation and Estrogen Receptor Positivity in Unselected Breast Cancer with BRCA1 or BRCA2 Mutation.
저자
by
Pujol, Pascal
;
Yauy, Kevin
;
Coffy, Amandine
;
Duforet-Frebourg, Nicolas
;
Gabteni, Sana
, et al.
소스
Cancers
. Jul2022, Vol. 14 Issue 13, pN.PAG-N.PAG. 13p.
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7 . Periodical
Using deep-neural-network-driven facial recognition to identify distinct Kabuki syndrome 1 and 2 gestalt
저자
by
Rouxel, Flavien
;
Yauy, Kevin
;
Boursier, Guilaine
;
Gatinois, Vincent
;
Barat-Houari, Mouna
, et al.
소스
European Journal of Human Genetics: EJHG; June 2022, Vol. 30 Issue: 6 p682-686, 5p
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7 . Academic Journal
Next generation phenotyping for diagnosis and phenotype–genotype correlations in Kabuki syndrome
저자
by
Hennocq, Quentin
;
Willems, Marjolaine
;
Amiel, Jeanne
;
Arpin, Stéphanie
;
Attie-Bitach, Tania
, et al.
소스
Scientific Reports
. 14(1)
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7 . Periodical
Rapid exome sequencing in critically ill infants: implementation in routine care from French regional hospital’s perspective
저자
by
Wells, Constance F.
;
Boursier, Guilaine
;
Yauy, Kevin
;
Ruiz-Pallares, Nathalie
;
Mechin, Déborah
, et al.
소스
European Journal of Human Genetics: EJHG; 20220101, Issue: Preprints p1-7, 7p
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7 . Academic Journal
Clinical and Molecular Spectrum of Nonsyndromic Early‐Onset Osteoarthritis.
저자
by
Ruault, Valentin
;
Yauy, Kevin
;
Fabre, Aurélie
;
Fradin, Mélanie
;
Van-Gils, Julien
, et al.
소스
Arthritis & Rheumatology
. Oct2020, Vol. 72 Issue 10, p1689-1693. 5p.
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7 . Periodical
Accurate detection of clinically relevant uniparental disomy from exome sequencing data
저자
by
Yauy, Kevin
;
de Leeuw, Nicole
;
Yntema, Helger G.
;
Pfundt, Rolph
;
Gilissen, Christian
.
소스
Genetics in Medicine; April 2020, Vol. 22 Issue: 4 p803-808, 6p
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