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PQDT
CAJ
RISS
PsycINFO

전체선택

Prevalence of chromosomal alterations in first-trimester spontaneous pregnancy loss

학술저널

issue: Nature Medicine. 29(12):3233-3242
Author: Essers, Rick^{Aff1, Aff2}
Lebedev, Igor N.
Kurg, Ants
Fonova, Elizaveta A.
Stevens, Servi J. C.^{Aff1, Aff2}
Koeck, Rebekka M.^{Aff1, Aff2}
von Rango, Ulrike
Brandts, Lloyd
Deligiannis, Spyridon Panagiotis^{Aff7, Aff8}
Nikitina, Tatyana V.
Sazhenova, Elena A.
Tolmacheva, Ekaterina N.
Kashevarova, Anna A.
Fedotov, Dmitry A.
Demeneva, Viktoria V.
Zhigalina, Daria I.
Drozdov, Gleb V.
Al-Nasiry, Salwan^{Aff2, Aff9}
Macville, Merryn V. E.^{Aff1, Aff2}
van den Wijngaard, Arthur^{Aff1, Aff2}
Dreesen, Jos
Paulussen, Aimee^{Aff1, Aff2}
Hoischen, Alexander^{Aff10, Aff11, Aff12, Aff13}
Brunner, Han G.^{Aff1, Aff2, Aff10}
Salumets, Andres^{Aff7, Aff14, Aff15, IDs41591023026455_cor25}
Zamani Esteki, Masoud^{Aff1, Aff2, Aff15, IDs41591023026455_cor26}
DB Label: Database : Springer Nature Journals

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

Comprehensive de novo mutation discovery with HiFi long-read sequencing

학술저널

issue: Genome Medicine. 15(1)
Author: Kucuk, Erdi^{Aff1, Aff2}
van der Sanden, Bart P. G. H.^{Aff1, Aff3}
O’Gorman, Luke
Kwint, Michael
Derks, Ronny
Wenger, Aaron M.
Lambert, Christine
Chakraborty, Shreyasee
Baybayan, Primo
Rowell, William J.
Brunner, Han G.^{Aff1, Aff3, Aff5, Aff6}
Vissers, Lisenka E. L. M.^{Aff1, Aff3}
Hoischen, Alexander^{Aff1, Aff2, Aff7, IDs13073023011836_cor13}
Gilissen, Christian^{Aff1, Aff2, IDs13073023011836_cor14}
DB Label: Database : Springer Nature Journals

원문보기: Full Text (원문보기) Full Text (원문보기) OA (Springer) Open Access (BioMed Central) 등재 - Web of Science (SCIE) 등재 - SCOPUS 조회 - Impact Factor (JCR)

Phenotypic and mutational spectrum of ROR2‐related Robinow syndrome

학술저널

issue: Human Mutation. 43(7)
Author: Lima, Ariadne R
Ferreira, Barbara M
Zhang, Chaofan
Jolly, Angad
Du, Haowei
White, Janson J
Dawood, Moez
Lins, Tulio C
Chiabai, Marcela A
Beusekom, Ellen
Cordoba, Mara S
Rosa, Erica CC Caldas
Kayserili, Hulya
Kimonis, Virginia
Wu, Erica
Mellado, Cecilia
Aggarwal, Vineet
Richieri‐Costa, Antonio
Brunoni, Décio
Canó, Talyta M
Jorge, Alexander AL
Kim, Chong A
Honjo, Rachel
Bertola, Débora R
Dandalo‐Girardi, Raissa M
Bayram, Yavuz
Gezdirici, Alper
Yilmaz‐Gulec, Elif
Gumus, Evren
Yilmaz, Gülay C
Okamoto, Nobuhiko
Ohashi, Hirofumi
Coban–Akdemir, Zeynep
Mitani, Tadahiro
Jhangiani, Shalini N
Muzny, Donna M
Regattieri, Neysa AP
Pogue, Robert
Pereira, Rinaldo W
Otto, Paulo A
Gibbs, Richard A
Ali, Bassam R
Bokhoven, Hans
Brunner, Han G
Sutton, V Reid
Lupski, James R
Vianna‐Morgante, Angela M
Carvalho, Claudia MB
Mazzeu, Juliana F
DB Label: Database : eScholarship

원문보기: Open Access (eScholarship)

Diagnostic and prognostic relevance of using large gene panels in the genetic testing of patients with dilated cardiomyopathy

학술저널

issue: European Journal of Human Genetics. 31(7):776-783
Author: Stroeks, Sophie L. V. M.^{Aff1, Aff2, Aff3}
Hellebrekers, Debby^{Aff3, Aff4}
Claes, Godelieve R. F.^{Aff3, Aff4}
Krapels, Ingrid P. C.^{Aff3, Aff4}
Henkens, Michiel H. T. M.^{Aff5, Aff6}
Sikking, Maurits^{Aff1, Aff3}
Vanhoutte, Els K.^{Aff3, Aff4}
Helderman-van den Enden, Apollonia^{Aff3, Aff4}
Brunner, Han G.^{Aff3, Aff4, Aff7, Aff8}
van den Wijngaard, Arthur^{Aff3, Aff4}
Verdonschot, Job A. J.^{Aff1, Aff3, Aff4, IDs4143102301384y_cor11}
DB Label: Database : Springer Nature Journals

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

Clonal Hematopoiesis Has Prognostic Value in Dilated Cardiomyopathy Independent of Age and Clone Size

학술저널

issue: In JACC: Heart Failure May 2024 12(5):905-914
Author: Sikking, Maurits A.
Stroeks, Sophie L.V.M.
Henkens, Michiel T.H.M.
Raafs, Anne G.
Cossins, Benjamin
van Deuren, Rosanne C.
Steehouwer, Marlies
Riksen, Niels P.
van den Wijngaard, Arthur
Brunner, Han G.
Hoischen, Alexander
Verdonschot, Job A.J.
Heymans, Stephane R.B.
DB Label: Database : ScienceDirect

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

Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature

학술저널