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- Academic Journals (317)
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- intellectual disability (38)
- epilepsy (31)
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Count Name
- intellectual disability (38)
- epilepsy (31)
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- european journal of medical genetics (57)
- american journal of medical genetics part a (28)
- american journal of medical genetics. part a (14)
간행물

Count Name
- european journal of medical genetics (57)
- american journal of medical genetics part a (28)
- american journal of medical genetics. part a (14)
- american journal of medical genetics - a (11)
- annals of neurology (10)
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- european journal of human genetics (8)
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- Science Citation Index Expanded (90)
- MEDLINE (86)
- Complementary Index (43)
수록데이터베이스

Count Name
- Science Citation Index Expanded (90)
- MEDLINE (86)
- Complementary Index (43)
- Academic Search Complete (41)
- Supplemental Index (21)
- Journals@OVID (19)
- ScienceDirect (18)
- CINAHL Plus with Full Text (7)
- Springer Nature Journals (4)
- Social Sciences Citation Index (3)
- Education Source (1)
- JSTOR Journals (1)
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PQDT
CAJ
RISS
PsycINFO

전체선택

Idiopathic generalized epilepsy in a family with SCN4A-related myotonia

학술저널

issue: EPILEPSIA OPEN; MAR 27 2024, 9p.
Author: Talarico, Mariagrazia
Fortunato, Francesco
Labalme, Audrey
Januel, Louis
Chatron, Nicolas
Sanlaville, Damien
Sammarra, Ilaria
Gagliardi, Monica
Procopio, Radha
Valentino, Paola
Annesi, Grazia
Lesca, Gaetan
Gambardella, Antonio
DB Label: Database : Science Citation Index Expanded

원문보기: Open Access (Wiley) 등재 - Web of Science 등재 - SCOPUS

DNASE1L3 deficiency, new phenotypes, and evidence for a transient type I IFN signaling

학술저널

issue: Journal of Clinical Immunology: International Journal of Inborn Errors of Immunity and Related Diseases. 42(6):1310-1320
Author: Tusseau, Maud^{Aff1, Aff2}
Lovšin, Ema
Samaille, Charlotte
Pescarmona, Rémi^{Aff1, Aff5}
Mathieu, Anne-Laure
Maggio, Maria-Cristina
Selmanović, Velma
Debeljak, Marusa
Dachy, Angelique
Novljan, Gregor
Janin, Alexandre^{Aff9, Aff10}
Januel, Louis
Gibier, Jean-Baptiste
Chopin, Emilie
Rouvet, Isabelle
Goncalves, David
Fabien, Nicole
Rice, Gillian I
Lesca, Gaétan
Labalme, Audrey
Romagnani, Paola
Walzer, Thierry
Viel, Sebastien^{Aff1, Aff5}
Perret, Magali^{Aff1, Aff5}
Crow, Yanick J.^{Aff15, Aff16}
Avčin, Tadej
Cimaz, Rolando^{Aff17, Aff18}
Belot, Alexandre^{Aff1, Aff19, Aff20, IDs10875022012875_cor28}
DB Label: Database : Springer Nature Journals

원문보기: 등재 - Web of Science (SCIE) 등재 - SCOPUS 조회 - Impact Factor (JCR) 원문복사신청 - RISS

GRM7-related disorder: five additional patients from three independent families and review of the literature

학술저널

issue: EUROPEAN JOURNAL OF MEDICAL GENETICS; FEB 2024, 67 p104893 8p.
Author: Januel, Louis
Chatron, Nicolas
Rivier-Ringenbach, Clotilde
Cabet, Sara
Labalme, Audrey
Sahin, Yavuz
Darvish, Hossein
Kruer, Michael
Bakhtiari, Somayeh
Sanlaville, Damien
Agathe, Jean Madeleine de Sainte
Lesca, Gaetan
DB Label: Database : Science Citation Index Expanded

원문보기: Full Text (ScienceDirect) Full Text (Clinical Key) Full Text (ScienceDirect O/A) 등재 - Web of Science 등재 - SCOPUS 조회 - Impact Factor (JCR)

The EPIGENE network: A French initiative to harmonize and improve the nationwide diagnosis of monogenic epilepsies

학술저널

issue: In European Journal of Medical Genetics March 2022 65(3)
Author: Arnaud, Lionel
Abi Warde, Marie-Thérèse
Barcia, Giulia
de Bellescize, Julitta
Chatron, Nicolas
Faoucher, Marie
de Saint Martin, Anne
Héron, Delphine
Jedraszak, Guillaume
Lacoste, Caroline
Lèbre, Anne-Sophie
Jenneson-Lyver, Mélanie
Labalme, Audrey
Leguern, Eric
Mignot, Cyril
Milh, Mathieu
Nabbout, Rima
Nava, Caroline
Panagiotakaki, Eleni
Piton, Amélie
Schaefer, Elise
Thevenon, Julien
Villard, Laurent
Ville, Dorothée
Lesca, Gaetan
DB Label: Database : ScienceDirect

원문보기: Full Text (ScienceDirect) Full Text (Clinical Key) 등재 - Web of Science (SCIE) 등재 - SCOPUS 조회 - Impact Factor (JCR)

Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior

학술저널