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1 . Academic Journal
Dominant negative variants in KIF5B cause osteogenesis imperfecta via down regulation of mTOR signaling.
저자
by
Ronit Marom
;
Bo Zhang
;
Megan E Washington
;
I-Wen Song
;
Lindsay C Burrage
, et al.
소스
PLoS Genetics, Vol 19, Iss 11, p e1011005 (2023)
Open Access (DOAJ)
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7 . Academic Journal
Delayed skeletal development and IGF-1 deficiency in a mouse model of lysinuric protein intolerance
저자
by
Bridget M. Stroup
;
Xiaohui Li
;
Sara Ho
;
Haonan Zhouyao
;
Yuqing Chen
, et al.
소스
Disease Models & Mechanisms, Vol 16, Iss 8 (2023)
Open Access (DOAJ)
Web of Science
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7 . Academic Journal
P130: Case report: Phenotypic features among four first-degree relatives with 17q11.2 microduplication syndrome
저자
by
Catherine Bradley
;
Haley Streff
;
Weimin Bi
;
Janice Smith
;
Jill Rosenfeld
, et al.
소스
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100159- (2023)
Full Text (ScienceDirect)
Full Text (Clinical Key)
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7 . Academic Journal
Identification of novel candidate disease genes from de novo exonic copy number variants
저자
by
Tomasz Gambin
;
Bo Yuan
;
Weimin Bi
;
Pengfei Liu
;
Jill A. Rosenfeld
, et al.
소스
Genome Medicine, Vol 9, Iss 1, Pp 1-15 (2017)
Open Access (BioMed Central)
Open Access (DOAJ)
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7 .
Barriers to a successful healthcare transition for individuals with urea cycle disorders
저자
by
Farah A. Ladha
;
Cynthia Le Mons
;
William J. Craigen
;
Pilar L. Magoulas
;
Ronit Marom
, et al.
소스
Molecular Genetics and Metabolism
. 139:107609
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7 .
Retrospective analysis of a clinical exome sequencing cohort reveals the mutational spectrum and identifies candidate disease–associated loci for BAFopathies
저자
by
Lei Wang
;
Mauricio R. Delgado
;
Margarita Saenz
;
Hongzheng Dai
;
Daryl A. Scott
, et al.
소스
Genet Med
Full Text (ScienceDirect O/A)
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7 .
PhenoScore: AI-based phenomics to quantify rare disease and genetic variation
저자
by
Alexander J M Dingemans
;
Max Hinne
;
Kim M G Truijen
;
Lia Goltstein
;
Jeroen van Reeuwijk
, et al.
소스
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7 .
A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder
저자
by
Suma P. Shankar
;
Kristin Grimsrud
;
Louise Lanoue
;
Alena Egense
;
Brandon Willis
, et al.
소스
Genet Med
Open Access (OpenAIRE)
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7 .
Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11
저자
by
Thomas A. Ravenscroft
;
Jennifer B. Phillips
;
Elizabeth Fieg
;
Sameer S. Bajikar
;
Judy Peirce
, et al.
소스
Genetics in medicine : official journal of the American College of Medical Genetics
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7 .
A concurrent dual analysis of genomic data augments diagnoses: Experiences of 2 clinical sites in the Undiagnosed Diseases Network
저자
by
Rebecca C. Spillmann
;
Queenie K.-G. Tan
;
Chloe Reuter
;
Kelly Schoch
;
Jennefer Kohler
, et al.
소스
Genetics in Medicine
. 25:100353
Full Text (ScienceDirect O/A)
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