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1 . Academic Journal
Early onset severe ATP1A2 epileptic encephalopathy: Clinical characteristics and underlying mutations
저자
by
Moya-Mendez, Mary E.
;
Mueller, David M.
;
Pratt, Milton
;
Bonner, Melanie
;
Elliott, Courtney
, et al.
소스
In
Epilepsy & Behavior
March 2021 116
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7 . Academic Journal
The interplay of psychosis and non‐compliance with fatal outcome in an adult with MSUD.
저자
by
Falah, Nadia
;
Pendyal, Surekha
;
Sasannejad, Cina
;
Gibson, Allison
;
Lee, Yu Lin
, et al.
소스
American Journal of Medical Genetics. Part A; Sep2024, Vol. 194 Issue 9, p1-5, 5p
Web of Science
Scopus
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7 . Academic Journal
CAMTA1‐related disorder: Phenotypic and molecular characterization of 26 new individuals and literature review.
저자
by
Al‐Kateb, Hussam
;
Au, P. Y. Billie
;
Berland, Siren
;
Cogne, Benjamin
;
Demurger, Florence
, et al.
소스
Clinical Genetics
. Mar2024, Vol. 105 Issue 3, p294-301. 8p.
Web of Science
Scopus
JCR 저널정보
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7 . Academic Journal
Unraveling non‐participation in genomic research: A complex interplay of barriers, facilitators, and sociocultural factors.
저자
by
McConkie‐Rosell, Allyn
;
Spillmann, Rebecca C.
;
Schoch, Kelly
;
Sullivan, Jennifer A.
;
Walley, Nicole
, et al.
소스
Journal of Genetic Counseling; Oct2023, Vol. 32 Issue 5, p993-1008, 16p
Web of Science
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7 . Academic Journal
High performing male with fragile X syndrome with an unmethylated FMR1 full mutation: The relevance of clinical and genetic correlations.
저자
by
Shieh, Meg
;
Amkraut, Keren
;
Spiridigliozzi, Gail A.
;
Adayev, Tatyana
;
Nicholson, Kaylea
, et al.
소스
Clinical Case Reports
. Jun2023, Vol. 11 Issue 6, p1-11. 11p.
Open Access (Wiley)
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7 . Academic Journal
The SHDRA syndrome-associated gene TMEM260 encodes a protein-specific O-mannosyltransferase.
저자
by
Larsen, Ida Signe Bohse
;
Povolo, Lorenzo
;
Luping Zhou
;
Weihua Tian
;
Mygind, Kasper Johansen
, et al.
소스
Proceedings of the National Academy of Sciences of the United States of America
. 5/23/2023, Vol. 120 Issue 21, p1-10. 21p.
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7 . Academic Journal
Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders
저자
by
Fischer-Zirnsak, Björn
;
Segebrecht, Lara
;
Schubach, Max
;
Charles, Perrine
;
Alderman, Emily
, et al.
소스
In
The American Journal of Human Genetics
5 September 2019 105(3):631-639
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7 . Academic Journal
Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of KCNH5.
저자
by
Happ, Hannah C.
;
Sadleir, Lynette G.
;
Zemel, Matthew
;
de Valles-Ibáñez, Guillem
;
Hildebrand, Michael S.
, et al.
소스
Neurology; 2/7/2023, Vol. 100 Issue 6, pe603-e615, 13p
Full Text (LWW)
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7 . Academic Journal
Rapid Whole Genome Sequencing in Critically Ill Neonates Enables Precision Medicine Pipeline.
저자
by
Beaman, Makenzie
;
Fisher, Kimberley
;
McDonald, Marie
;
Tan, Queenie K. G.
;
Jackson, David
, et al.
소스
Journal of Personalized Medicine
. Nov2022, Vol. 12 Issue 11, p1924. 9p.
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7 . Academic Journal
Does age affect response to quinidine in patients with KCNT1 mutations? Report of three new cases and review of the literature
저자
by
Abdelnour, Elie
;
Gallentine, William
;
McDonald, Marie
;
Sachdev, Monisha
;
Jiang, Yong-Hui
, et al.
소스
In
Seizure: European Journal of Epilepsy
February 2018 55:1-3
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