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1 . Academic Journal
Case report: Deep sequencing and long-read genome sequencing refine prior genetic analyses in families with apparent gonadal mosaicism in PIK3CD-related activated PI3K delta syndrome
저자
by
Halyn Orellana
;
Jia Yan
;
Alex Paul
;
Mari Tokita
;
Yan Ding
, et al.
소스
Frontiers in Immunology, Vol 15 (2024)
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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
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 of FAM177A1, a Golgi complex localized protein, causes a novel neurodevelopmental disorder
저자
by
Acosta, Maria T.
;
Adam, Margaret
;
Adams, David R.
;
Alvarez, Raquel L.
;
Alvey, Justin
, et al.
소스
In
Genetics in Medicine
September 2024 26(9)
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7 . Academic Journal
Cohort Expansion and Genotype-Phenotype Analysis of RAB11A-Associated Neurodevelopmental Disorder
저자
by
Acosta, Maria T.
;
Adam, Margaret
;
Adams, David R.
;
Alvarez, Raquel L.
;
Alvey, Justin
, et al.
소스
In
Pediatric Neurology
November 2024 160:45-53
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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
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
Biallelic variants in ribonuclease inhibitor (RNH1), an inflammasome modulator, are associated with a distinctive subtype of acute, necrotizing encephalopathy
저자
by
Acosta, Maria T.
;
Adam, Margaret
;
Adams, David R.
;
Alvarez, Raquel L.
;
Alvey, Justin
, et al.
소스
In
Genetics in Medicine
September 2023 25(9)
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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
Genomic landscape of patients with germline RUNX1 variants and familial platelet disorder with myeloid malignancy
저자
by
Yu, Kai
;
Deuitch, Natalie
;
Merguerian, Matthew
;
Cunningham, Lea
;
Davis, Joie
, et al.
소스
In
Blood Advances
23 January 2024 8(2):497-511
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