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1 . Academic Journal
A loss-of-function AGTR1 variant in a critically-ill infant with renal tubular dysgenesis: case presentation and literature review
저자
by
Aljazi Al-Maraghi
;
Waleed Aamer
;
Mubarak Ziab
;
Elbay Aliyev
;
Najwa Elbashir
, et al.
소스
BMC Nephrology, Vol 25, Iss 1, Pp 1-7 (2024)
Open Access (BioMed Central)
Open Access (DOAJ)
Web of Science
Scopus
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7 . Academic Journal
Severe neonatal onset neuroregression with paroxysmal dystonia and apnoea: Expanding the phenotypic and genotypic spectrum of CARS2‐related mitochondrial disease
저자
by
Jessie Poquérusse
;
Melinda Nolan
;
David R. Thorburn
;
Johan L. K. Van Hove
;
Marisa W. Friederich
, et al.
소스
JIMD Reports, Vol 64, Iss 3, Pp 223-232 (2023)
Open Access (Wiley)
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Scopus
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7 . Academic Journal
Poland-Möbius syndrome: a case report implicating a novel mutation of the PLXND1 gene and literature review
저자
by
Graeme E. Glass
;
Shiyas Mohammedali
;
Bran Sivakumar
;
Mitchell A. Stotland
;
Faisal Abdulkader
, et al.
소스
BMC Pediatrics, Vol 22, Iss 1, Pp 1-10 (2022)
Open Access (BioMed Central)
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7 . Academic Journal
Determination of Pathogenicity of Breast Cancer 1 Gene Variants using the American College of Medical Genetics and Genomics and the Association for Molecular Pathology Guidelines
저자
by
Angela Brown
;
Mansour Zamanpoor
;
Donald R. Love
;
Debra O. Prosser
.
소스
Sultan Qaboos University Medical Journal, Vol 19, Iss 4, Pp 324-334 (2019)
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6 . Academic Journal
Next-generation sequencing using microfluidic PCR enrichment for molecular autopsy
저자
by
Hariharan Raju
;
James S. Ware
;
Jonathan R. Skinner
;
Paula L. Hedley
;
Gavin Arno
, et al.
소스
BMC Cardiovascular Disorders, Vol 19, Iss 1, Pp 1-10 (2019)
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7 . Academic Journal
Haploinsufficiency of the FOXA2 associated with a complex clinical phenotype
저자
by
Idris Mohammed
;
Sara Al‐Khawaga
;
David Bohanna
;
Abdusamea Shabani
;
Faiyaz Khan
, et al.
소스
Molecular Genetics & Genomic Medicine, Vol 8, Iss 6, Pp n/a-n/a (2020)
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7 . Academic Journal
Predicting the Pathogenic Potential of BRCA1 and BRCA2 Gene Variants Identified in Clinical Genetic Testing
저자
by
Clare Brookes
;
Stella Lai
;
Elaine Doherty
;
Donald R. Love
.
소스
Sultan Qaboos University Medical Journal, Vol 15, Iss 2, Pp 218-225 (2015)
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6 . Academic Journal
Diagnostic Screening Workflow for Mutations in the BRCA1 and BRCA2 Genes
저자
by
Stella Lai
;
Clare Brooke
;
Debra O. Prosser
;
Chuan-Ching Lan
;
Elaine Doherty
, et al.
소스
Sultan Qaboos University Medical Journal, Vol 15, Iss 1, Pp 58-70 (2015)
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7 . Academic Journal
Application of Massively Parallel Sequencing in the Clinical Diagnostic Testing of Inherited Cardiac Conditions
저자
by
Ivone U. S. Leong
;
Jonathan R. Skinner
;
Donald R. Love
.
소스
Medical Sciences, Vol 2, Iss 2, Pp 98-126 (2014)
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5 . Academic Journal
Implications of a Chr7q21.11 Microdeletion and the Role of the PCLO Gene in Developmental Delay
저자
by
Roberto L. Mazzaschi
;
Fern Ashton
;
Salim Aftimos
;
Alice M. George
;
Donald R. Love
.
소스
Sultan Qaboos University Medical Journal, Vol 13, Iss 2, Pp 306-310 (2013)
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