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PQDT
CAJ
RISS
PsycINFO

전체선택

Evidence review and considerations for use of first line genome sequencing to diagnose rare genetic disorders.

학술저널

issue: npj Genomic Medicine. 9(1)
Author: Brockman, Deanna
Costain, Gregory
Hale, Caitlin
Taylor, Stacie
Belmont, John
Bick, David
Dimmock, David
Fernbach, Susan
Greally, John
Jobanputra, Vaidehi
Kulkarni, Shashikant
Spiteri, Elizabeth
Taft, Ryan
Wigby, Kristen
DB Label: Database : eScholarship

원문보기: Open Access (eScholarship)

Heterozygous MAP3K20 variants cause ectodermal dysplasia, craniosynostosis, sensorineural hearing loss, and limb anomalies

학술저널

issue: Human Genetics. 143(3):279-291
Author: Brooks, Daniel
Burke, Elizabeth
Lee, Sukyeong^{Aff3, Aff4}
Eble, Tanya N.
O’Leary, Melanie
Osei-Owusu, Ikeoluwa
Rehm, Heidi L.^{Aff5, Aff6}
Dhar, Shweta U.
Emrick, Lisa^{Aff1, Aff7, Aff8}
Bick, David
Nehrebecky, Michelle
Macnamara, Ellen
Casas-Alba, Dídac
Armstrong, Judith
Prat, Carolina
Martínez-Monseny, Antonio F.
Palau, Francesc^{Aff10, Aff12}
Liu, Pengfei^{Aff1, Aff13}
Adams, David
Lalani, Seema^{Aff1, Aff8}
Rosenfeld, Jill A.^{Aff1, IDs00439024026572_cor22}
Burrage, Lindsay C.^{Aff1, Aff8, IDs00439024026572_cor23}
DB Label: Database : Springer Nature Journals

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

PAAPLoss: A Phonetic-Aligned Acoustic Parameter Loss for Speech Enhancement

보고서

Author: Yang, Muqiao
Konan, Joseph
Bick, David
Zeng, Yunyang
Han, Shuo
Kumar, Anurag
Watanabe, Shinji
Raj, Bhiksha
DB Label: Database : arXiv

원문보기: Open Access (Arxiv)

TAPLoss: A Temporal Acoustic Parameter Loss for Speech Enhancement

보고서

Author: Zeng, Yunyang
Konan, Joseph
Han, Shuo
Bick, David
Yang, Muqiao
Kumar, Anurag
Watanabe, Shinji
Raj, Bhiksha
DB Label: Database : arXiv

원문보기: Open Access (Arxiv)

Improving Speech Enhancement through Fine-Grained Speech Characteristics

보고서

Author: Yang, Muqiao
Konan, Joseph
Bick, David
Kumar, Anurag
Watanabe, Shinji
Raj, Bhiksha
DB Label: Database : arXiv

원문보기: Open Access (Arxiv)

Applying the Clinician-reported Genetic testing Utility InDEx (C-GUIDE) to genome sequencing: further evidence of validity

학술저널

issue: European Journal of Human Genetics. 30(12):1423-1431
Author: Hayeems, Robin Z.^{Aff1, Aff2, IDs4143102201192w_cor1}
Luca, Stephanie
Hurst, Anna C. E.
Cochran, Meagan
Owens, Chelsea
Hossain, Alomgir
Chad, Lauren^{Aff6, Aff7, Aff8}
Meyn, M. Stephen
Pullenayegum, Eleanor^{Aff1, Aff10}
Ungar, Wendy J.^{Aff1, Aff2}
Bick, David^{Aff4, Aff11}
DB Label: Database : Springer Nature Journals

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

Evidence review and considerations for use of first line genome sequencing to diagnose rare genetic disorders

학술저널

issue: npj Genomic Medicine. 9(1)
Author: Wigby, Kristen M.^{Aff1, Aff2, IDs4152502400396x_cor1}
Brockman, Deanna
Costain, Gregory
Hale, Caitlin
Taylor, Stacie L.
Belmont, John
Bick, David
Dimmock, David
Fernbach, Susan
Greally, John
Jobanputra, Vaidehi
Kulkarni, Shashikant
Spiteri, Elizabeth
Taft, Ryan J.
DB Label: Database : Springer Nature Journals

원문보기: OA (Springer) OA (Nature) 등재 - SCOPUS 조회 - Impact Factor (JCR)

De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects

학술저널