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1 . Academic Journal
P339: Whole genome sequencing identifies biallelic variants in newly described EMC10-related neurodevelopmental disorder not detected by prior genetic testing
저자
by
Jerica Lenberg
;
Kristen Wigby
;
Jennifer Friedman
;
Mari Tokita
;
Alaina Heinen
, et al.
소스
Genetics in Medicine Open, Vol 2, Iss , Pp 101233- (2024)
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7 . Academic Journal
Approaches to long-read sequencing in a clinical setting to improve diagnostic rate
저자
by
Erica Sanford Kobayashi
;
Serge Batalov
;
Aaron M. Wenger
;
Christine Lambert
;
Harsharan Dhillon
, et al.
소스
Scientific Reports, Vol 12, Iss 1, Pp 1-7 (2022)
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7 . Academic Journal
An approach for collaborative development of a federated biomedical knowledge graph-based question-answering system: Question-of-the-Month challenges
저자
by
Karamarie Fecho
;
Chris Bizon
;
Tursynay Issabekova
;
Sierra Moxon
;
Anne E. Thessen
, et al.
소스
Journal of Clinical and Translational Science, Vol 7 (2023)
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7 . Academic Journal
Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines
저자
by
Oya Kuseyri Hübschmann
;
Gabriella Horvath
;
Elisenda Cortès-Saladelafont
;
Yılmaz Yıldız
;
Mario Mastrangelo
, et al.
소스
Nature Communications, Vol 12, Iss 1, Pp 1-15 (2021)
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7 . Academic Journal
Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders
저자
by
Madelyn A. Gillentine
;
Tianyun Wang
;
Kendra Hoekzema
;
Jill Rosenfeld
;
Pengfei Liu
, et al.
소스
Genome Medicine, Vol 13, Iss 1, Pp 1-26 (2021)
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7 . Academic Journal
Correction to: Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies
저자
by
Thomas Opladen
;
Eduardo López-Laso
;
Elisenda Cortès-Saladelafont
;
Toni S. Pearson
;
H. Serap Sivri
, et al.
소스
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-5 (2020)
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7 . Academic Journal
Failure to thrive - an overlooked manifestation of KMT2B-related dystonia: a case presentation
저자
by
Andrew Ng
;
Serena Galosi
;
Lisa Salz
;
Terence Wong
;
Caitlin Schwager
, et al.
소스
BMC Neurology, Vol 20, Iss 1, Pp 1-6 (2020)
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7 . Academic Journal
Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies
저자
by
Thomas Opladen
;
Eduardo López-Laso
;
Elisenda Cortès-Saladelafont
;
Toni S. Pearson
;
H. Serap Sivri
, et al.
소스
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-30 (2020)
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7 . Academic Journal
Experience obtaining legal abortion in Uruguay: knowledge, attitudes, and stigma among abortion clients
저자
by
Shelly Makleff
;
Ana Labandera
;
Fernanda Chiribao
;
Jennifer Friedman
;
Roosbelinda Cardenas
, et al.
소스
BMC Women's Health, Vol 19, Iss 1, Pp 1-10 (2019)
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7 . Academic Journal
AHDC1 missense mutations in Xia-Gibbs syndrome
저자
by
Michael M. Khayat
;
Jianhong Hu
;
Yunyun Jiang
;
He Li
;
Varuna Chander
, et al.
소스
HGG Advances, Vol 2, Iss 4, Pp 100049- (2021)
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