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1 . Academic Journal
Associations between cognitive performance and the rehabilitation, medical care and social support provided to French children with Prader-Willi syndrome
저자
by
Roux-Levy, Pierre-Henri
;
Bournez, Marie
;
Masurel, Alice
;
Jean, Nolwenn
;
Chancenotte, Sophie
, et al.
소스
In
European Journal of Medical Genetics
December 2020 63(12)
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7 . Academic Journal
Compassionate use of everolimus for refractory epilepsy in a patient with MTOR mosaic mutation
저자
by
Hadouiri, Nawale
;
Darmency, Veronique
;
Guibaud, Laurent
;
Arzimanoglou, Alexis
;
Sorlin, Arthur
, et al.
소스
In
European Journal of Medical Genetics
November 2020 63(11)
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7 . Academic Journal
Further description of two individuals with de novo p.(Glu127Lys) missense variant in the ASCL1 gene.
저자
by
Malbos, Marlène
;
Wakeling, Emma
;
Gautier, Thierry
;
Boespflug‐Tanguy, Odile
;
Busby, Louise
, et al.
소스
Clinical Genetics
. May2024, Vol. 105 Issue 5, p555-560. 6p.
Scopus
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7 . Academic Journal
Reducing diagnostic turnaround times of exome sequencing for families requiring timely diagnoses
저자
by
Bourchany, Aurélie
;
Thauvin-Robinet, Christel
;
Lehalle, Daphné
;
Bruel, Ange-Line
;
Masurel-Paulet, Alice
, et al.
소스
In
European Journal of Medical Genetics
November 2017 60(11):595-604
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7 . Academic Journal
Subcutaneous anakinra in the management of refractory MIS-C in France.
저자
by
Dusser, Perrine
;
Belot, Alexandre
;
Bajolle, Fanny
;
Kevorkian-Verguet, Charlotte
;
Meinzer, Ulrich
, et al.
소스
Frontiers in Pediatrics; 2024, p1-8, 8p
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7 . Academic Journal
Note-taking as a main feature in a social networking platform for small and medium sized enterprises
저자
by
Atrash, Ala
;
Abel, Marie-Hélène
;
Moulin, Claude
;
Darène, Nathalie
;
Huet, Frédéric
, et al.
소스
In
Computers in Human Behavior
October 2015 51 Part B:705-714
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7 . Periodical
Children Hospitalized With Respiratory Syncytial Virus Infection: A Pre Versus Late COVID-19 Pandemic Comparison
저자
by
Solus, Astrid
;
Huet, Frederic
;
Perez-Martin, Stephanie
;
Verney, Cindy
;
Auvray, Christelle
, et al.
소스
The Pediatric Infectious Disease Journal; March 2024, Vol. 43 Issue: 3 pe110-e113, 4p
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7 . Academic Journal
Central venous thrombosis and thrombophilia in cystic fibrosis: A prospective study
저자
by
Munck, Anne
;
Kheniche, Ahmed
;
Alberti, Corinne
;
Hubert, Dominique
;
Martine, Reynaud-Gaubert
, et al.
소스
In
Journal of Cystic Fibrosis
January 2015 14(1):97-103
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7 . Book
Chapitre 16 - Dépistage néonatal : éléments à l'usage des cliniciens généticiens
저자
by
Lacombe, Didier
;
Labarthe, François
;
Leheup, Bruno
;
Roussey, Michel
;
Huet, Frédéric
.
소스
In
Génétique médicale
Edition: Second Edition. 2022:207-218
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7 . Academic Journal
Long‐term follow‐up of 64 children with classical infantile‐onset Pompe disease since 2004: A French real‐life observational study.
저자
by
Tardieu, Marine
;
Cudejko, Céline
;
Cano, Aline
;
Hoebeke, Célia
;
Bernoux, Delphine
, et al.
소스
European Journal of Neurology
. Sep2023, Vol. 30 Issue 9, p2828-2837. 10p.
Open Access (Wiley)
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