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1 . Academic Journal
Sequential dual curing by selective Michael addition and free radical polymerization of acetoacetate-acrylate-methacrylate mixtures
저자
by
Konuray, Ali Osman
;
Ruiz, Anna
;
Morancho, José M.
;
Salla, José M.
;
Fernández-Francos, Xavier
, et al.
소스
In
European Polymer Journal
January 2018 98:39-46
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7 . Academic Journal
Novel 14q32.2 paternal deletion encompassing the whole DLK1 gene associated with Temple syndrome.
저자
by
Baena, Neus
;
Monk, David
;
Aguilera, Cinthia
;
Fraga, Mario F.
;
Fernández, Agustín F.
, et al.
소스
Clinical Epigenetics
. 5/7/2024, Vol. 16 Issue 1, p1-11. 11p.
Open Access (BioMed Central)
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7 . Academic Journal
Case report: Identification of a novel variant p.Gly215Arg in the CHN1 gene causing Moebius syndrome.
저자
by
Manso-Bazús, Carmen
;
Spataro, Nino
;
Gabau, Elisabeth
;
Beltrán-Salazar, Viviana P.
;
Trujillo-Quintero, Juan Pablo
, et al.
소스
Frontiers in Genetics; 2024, p1-7, 7p
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7 . Academic Journal
High Performance of a Dominant/X-Linked Gene Panel in Patients with Neurodevelopmental Disorders.
저자
by
Spataro, Nino
;
Trujillo-Quintero, Juan Pablo
;
Manso, Carmen
;
Gabau, Elisabeth
;
Capdevila, Nuria
, et al.
소스
Genes
. Mar2023, Vol. 14 Issue 3, p708. 13p.
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7 . Academic Journal
De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability.
저자
by
Schalk, Audrey
;
Cousin, Margot A.
;
Dsouza, Nikita R.
;
Challman, Thomas D.
;
Wain, Karen E.
, et al.
소스
Journal of Medical Genetics; Oct2022, Vol. 59 Issue 10, p965-975, 11p
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7 . Academic Journal
Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes.
저자
by
Scala, Marcello
;
Nishikawa, Masashi
;
Ito, Hidenori
;
Tabata, Hidenori
;
Khan, Tayyaba
, et al.
소스
Brain: A Journal of Neurology
. Sep2022, Vol. 145 Issue 9, p3308-3327. 20p.
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7 . Academic Journal
W51. HIGH DIAGNOSTIC YIELD IN CHILDREN AND ADOLESCENTS WITH MILD TO BORDERLINE INTELLECTUAL FUNCTIONING AND COMORBID PSYCHIATRIC DISORDER
저자
by
Bazús, Carmen Manso
;
Torrent, Lidia
;
Ruiz, Anna
;
Spataro, Nino
;
Baena, Neus
, et al.
소스
In
European Neuropsychopharmacology
October 2021 51:e171-e171
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7 . Academic Journal
New genes involved in Angelman syndrome-like: Expanding the genetic spectrum.
저자
by
Aguilera, Cinthia
;
Gabau, Elisabeth
;
Ramirez-Mallafré, Ariadna
;
Brun-Gasca, Carme
;
Dominguez-Carral, Jana
, et al.
소스
PLoS ONE
. 10/15/2021, Vol. 16 Issue 10, p1-13. 13p.
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7 . Academic Journal
Mutations in HID1 Cause Syndromic Infantile Encephalopathy and Hypopituitarism.
저자
by
Schänzer, Anne
;
Achleitner, Melanie T.
;
Trümbach, Dietrich
;
Hubert, Laurence
;
Munnich, Arnold
, et al.
소스
Annals of Neurology
. Jul2021, Vol. 90 Issue 1, p143-158. 16p.
Full Text (Wiley)
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7 . Academic Journal
The Novel KIF1A Missense Variant (R169T) Strongly Reduces Microtubule Stimulated ATPase Activity and Is Associated With NESCAV Syndrome.
저자
by
Aguilera, Cinthia
;
Hümmer, Stefan
;
Masanas, Marc
;
Gabau, Elisabeth
;
Guitart, Miriam
, et al.
소스
Frontiers in Neuroscience; 5/26/2021, Vol. 15, p1-9, 9p
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