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1 . Academic Journal
Expanding the genetic and phenotypic landscape of replication factor C complex-related disorders: RFC4 deficiency is linked to a multisystemic disorder
저자
by
Morimoto, Marie
;
Ryu, Eunjin
;
Steger, Benjamin J.
;
Dixit, Abhijit
;
Saito, Yoshihiko
, et al.
소스
In
The American Journal of Human Genetics
5 September 2024 111(9):1970-1993
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7 . Academic Journal
Dominant missense variants in SREBF2 are associated with complex dermatological, neurological, and skeletal abnormalities
저자
by
Bacino, Carlos A.
;
Balasubramanyam, Ashok
;
Burrage, Lindsay C.
;
Chao, Hsiao-Tuan
;
Chinn, Ivan
, et al.
소스
In
Genetics in Medicine
September 2024 26(9)
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7 . Academic Journal
Loss-of-function in RBBP5 results in a syndromic neurodevelopmental disorder associated with microcephaly
저자
by
Acosta, Maria T.
;
Adams, David R.
;
Raquel
;
Alvarez, L.
;
Alvey, Justin
, et al.
소스
In
Genetics in Medicine
November 2024 26(11)
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7 . Academic Journal
The Undiagnosed Diseases Network: Characteristics of solvable applicants and diagnostic suggestions for nonaccepted ones
저자
by
Acosta, Maria T.
;
Adams, David R.
;
Afzali, Ben
;
Al-Beshri, Ali
;
Allworth, Aimee
, et al.
소스
In
Genetics in Medicine
October 2024 26(10)
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7 . Academic Journal
Exome and genome sequencing in a heterogeneous population of patients with rare disease: Identifying predictors of a diagnosis
저자
by
Acosta, Maria T.
;
Adams, David R.
;
Alvarez, Raquel L.
;
Alvey, Justin
;
Allworth, Aimee
, et al.
소스
In
Genetics in Medicine
June 2024 26(6)
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7 . Academic Journal
Dual diagnosis of UQCRFS1-related mitochondrial complex III deficiency and recessive GJA8-related cataracts
저자
by
Elizabeth E. Blue
;
Samuel J. Huang
;
Alyna Khan
;
Katie Golden-Grant
;
Brenna Boyd
, et al.
소스
Rare, Vol 2, Iss , Pp 100040- (2024)
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7 . Academic Journal
P364: Mosaic copy gain of 16p with supernumerary chromosome formation: An emerging phenotype
저자
by
Arthur Lenahan
;
Ian Glass
;
Andrew Stergachis
;
Cate Paschal
;
Elizabeth Blue
, et al.
소스
Genetics in Medicine Open, Vol 2, Iss , Pp 101258- (2024)
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7 . Academic Journal
De novo variants in DENND5B cause a neurodevelopmental disorder
저자
by
Acosta, Maria T.
;
Adams, David R.
;
Alvarez, Raquel L.
;
Alvey, Justin
;
Allworth, Aimee
, et al.
소스
In
The American Journal of Human Genetics
7 March 2024 111(3):529-543
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7 . Academic Journal
Dominant‐negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome
저자
by
Jonai Pujol‐Giménez
;
Ghayda Mirzaa
;
Elizabeth E. Blue
;
Giuseppe Albano
;
Danny E. Miller
, et al.
소스
Annals of Clinical and Translational Neurology, Vol 10, Iss 6, Pp 1046-1053 (2023)
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7 . Academic Journal
Education and electronic medical records and genomics network, challenges, and lessons learned from a large-scale clinical trial using polygenic risk scores
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by
Connolly, John J.
;
Berner, Eta S.
;
Smith, Maureen
;
Levy, Samuel
;
Terek, Shannon
, et al.
소스
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Genetics in Medicine
September 2023 25(9)
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