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PQDT
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RISS
PsycINFO

전체선택

Human ABL1 deficiency syndrome (HADS) is a recognizable syndrome distinct from ABL1-related congenital heart defects and skeletal malformations syndrome

학술저널

issue: Human Genetics. :1-7
Author: AlAbdi, Lama
Neuhann, Teresa
Prott, Eva-Christina
Schön, Ulrike
Abdulwahab, Firdous
Faqeih, Eissa
Alkuraya, Fowzan S.^{Aff1, IDs0043902402677y_cor7}
DB Label: Database : Springer Nature Journals

원문보기: 등재 - SCOPUS 조회 - Impact Factor (JCR) 원문복사신청 - RISS

Bi-allelic variants in HCRT cause autosomal recessive narcolepsy

학술저널

issue: Neurogenetics: New developments in Neurogenetics and Neuroepigenetics.. 25(2):79-83
Author: Hakami, Wejdan
Thabet, Farah
Alhashem, Amal
Alghamdi, Abdulaziz
Alshahwan, Saad
Alkuraya, Fowzan S.
Tabarki, Brahim^{Aff1, IDs10048024007440_cor7}
DB Label: Database : Springer Nature Journals

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

Vitamin D-binding protein deficiency: an underrecognized Mendelian disorder of vitamin D metabolism

학술저널

issue: Human Genetics. 143(2):101-105
Author: Al Masseri, Zainab^{Aff1, IDs00439023026323_cor1}
Alqahtani, Mashael
Almoshawer, Eman
Alkuraya, Fowzan S.^{Aff2, IDs00439023026323_cor4}
DB Label: Database : Springer Nature Journals

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

Mining local exome and HLA data to characterize pharmacogenetic variants in Saudi Arabia

학술저널

issue: Human Genetics. 143(2):125-136
Author: Abouelhoda, Mohamed
Almuqati, Noura
Abogosh, Ahmed
Alfraih, Feras
Maddirevula, Sateesh
Alkuraya, Fowzan S.^{Aff2, Aff4, IDs0043902302628z_cor6}
DB Label: Database : Springer Nature Journals

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

Genomic analysis of presumed perinatal stroke in Saudi Arabia reveals a strong monogenic contribution

학술저널

issue: Human Genetics. 143(1):59-69
Author: Alshammari, Muneera J.
Shamseldin, Hanan E.
Essbaiheen, Fahad
Eltahir, Sara H.
Alruwaili, Ashwag R.
Abdulwahab, Firdous
Alkuraya, Fowzan S.^{Aff2, Aff5, IDs00439023026216_cor7}
DB Label: Database : Springer Nature Journals

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

Primate-specific ZNF808 is essential for pancreatic development in humans

학술저널

issue: Nature Genetics. 55(12):2075-2081
Author: De Franco, Elisa
Owens, Nick D. L.
Montaser, Hossam
Wakeling, Matthew N.
Saarimäki-Vire, Jonna
Triantou, Athina
Ibrahim, Hazem
Balboa, Diego^{Aff4, Aff5}
Caswell, Richard C.
Jennings, Rachel E.^{Aff7, Aff8}
Kvist, Jouni A.
Johnson, Matthew B.
Muralidharan, Sachin
Ellard, Sian
Wright, Caroline F.
Maddirevula, Sateesh
Alkuraya, Fowzan S.^{Aff9, Aff10}
Hanley, Neil A.^{Aff7, Aff8}
Flanagan, Sarah E.
Otonkoski, Timo^{Aff2, Aff11, IDs4158802301565x_cor21}
Hattersley, Andrew T.^{Aff1, IDs4158802301565x_cor22}
Imbeault, Michael^{Aff3, IDs4158802301565x_cor23}
DB Label: Database : Springer Nature Journals

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

A founder DBR1 variant causes a lethal form of congenital ichthyosis

학술저널

issue: Human Genetics. 142(10):1491-1498
Author: Shamseldin, Hanan E.
Sadagopan, Mukunth
Martini, Javier
Al-Ali, Ruslan
Radefeldt, Mandy
Ataei, Mojgan
Lemke, Sabrina
Rahbeeni, Zuhair
Al Mutairi, Fuad^{Aff4, Aff5}
Ababneh, Faroug^{Aff4, Aff5}
AlRukban, Hadeel A.
Abdulwahab, Firdous
Alhajj, Saleh Mohammed
Bauer, Peter^{Aff2, Aff7}
Bertoli-Avella, Aida
Alkuraya, Fowzan S.^{Aff1, Aff8, IDs00439023025973_cor16}
DB Label: Database : Springer Nature Journals

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

PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework

학술저널