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1 . Academic Journal
NAA10-related syndrome
저자
by
Yiyang Wu
;
Gholson J. Lyon
.
소스
Experimental and Molecular Medicine, 50(0), pp.1-10 Jul, 2018
Open Access (KCI)
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Scopus
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4 . Academic Journal
Evaluating possible maternal effect lethality and genetic background effects in Naa10 knockout mice
저자
by
Gholson J. Lyon
;
Joseph Longo
;
Andrew Garcia
;
Fatima Inusa
;
Elaine Marchi
, et al.
소스
PLoS ONE, Vol 19, Iss 5 (2024)
Open Access (DOAJ)
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7 . Academic Journal
SvAnna: efficient and accurate pathogenicity prediction of coding and regulatory structural variants in long-read genome sequencing
저자
by
Daniel Danis
;
Julius O. B. Jacobsen
;
Parithi Balachandran
;
Qihui Zhu
;
Feyza Yilmaz
, et al.
소스
Genome Medicine, Vol 14, Iss 1, Pp 1-13 (2022)
Open Access (BioMed Central)
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Web of Science
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7 . Academic Journal
Synaptic processes and immune-related pathways implicated in Tourette syndrome
저자
by
Fotis Tsetsos
;
Dongmei Yu
;
Jae Hoon Sul
;
Alden Y. Huang
;
Cornelia Illmann
, et al.
소스
Translational Psychiatry, Vol 11, Iss 1, Pp 1-12 (2021)
Open Access (DOAJ)
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7 . Academic Journal
Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva Initiative
저자
by
Christoffer Nellåker
;
Fowzan S. Alkuraya
;
Gareth Baynam
;
Raphael A. Bernier
;
Francois P.J. Bernier
, et al.
소스
Frontiers in Genetics, Vol 10 (2019)
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7 . Academic Journal
Long-read sequencing and de novo assembly of a Chinese genome
저자
by
Lingling Shi
;
Yunfei Guo
;
Chengliang Dong
;
John Huddleston
;
Hui Yang
, et al.
소스
Nature Communications, Vol 7, Iss 1, Pp 1-10 (2016)
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7 . Academic Journal
Integrating precision medicine in the study and clinical treatment of a severely mentally ill person
저자
by
Jason A. O’Rawe
;
Han Fang
;
Shawn Rynearson
;
Reid Robison
;
Edward S. Kiruluta
, et al.
소스
PeerJ, Vol 1, p e177 (2013)
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7 .
Phenotypic variability and gastrointestinal manifestations/interventions for growth in
NAA10
‐related neurodevelopmental syndrome
저자
by
Katherine Sandomirsky
;
Elaine Marchi
;
Maureen Gavin
;
Karen Amble
;
Gholson J. Lyon
.
소스
American Journal of Medical Genetics Part A
. 191:1293-1300
Open Access (OpenAIRE)
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7 .
KBG syndrome: videoconferencing and use of artificial intelligence driven facial phenotyping in 25 new patients
저자
by
Lily Guo
;
Jiyeon Park
;
Edward Yi
;
Elaine Marchi
;
Tzung-Chien Hsieh
, et al.
소스
European Journal of Human Genetics
. 30:1244-1254
Open Access (OpenAIRE)
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7 .
Documentation and prevalence of prenatal and neonatal outcomes in a cohort of individuals with
KBG
syndrome
저자
by
Ola Kierzkowska
;
Kathleen Sarino
;
Drake Carter
;
Lily Guo
;
Elaine Marchi
, et al.
소스
American Journal of Medical Genetics Part A
.
Open Access (OpenAIRE)
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