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Genotype-Phenotype Correlation in Congenital LQTS: Implications for Diagnosis and Risk Stratification
Cardiac Repolarization
◽
10.1007/978-3-030-22672-5_8
◽
2019
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pp. 141-164
Author(s):
Ilan Goldenberg
Keyword(s):
Risk Stratification
◽
Phenotype Correlation
◽
Genotype Phenotype Correlation
◽
Congenital Lqts
Download Full-text
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Genotype-phenotype correlation and risk stratification in a cohort of 123 hereditary stomatocytosis patients
American Journal of Hematology
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10.1002/ajh.25276
◽
2018
◽
Vol 93
(12)
◽
pp. 1509-1517
◽
Cited By ~ 17
Author(s):
Immacolata Andolfo
◽
Roberta Russo
◽
Barbara Eleni Rosato
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Francesco Manna
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Antonella Gambale
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...
Keyword(s):
Risk Stratification
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Phenotype Correlation
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Genotype Phenotype Correlation
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A familial case of osteogenesis imperfecta: study of genotype-phenotype correlation
Bone Abstracts
◽
10.1530/boneabs.2.p160
◽
2013
◽
Author(s):
Ponti Emanuela
◽
Mihalich Alessandra
◽
Broggi Francesca
◽
Maria Di Blasio Anna
◽
Luisa Bianchi Maria
Keyword(s):
Osteogenesis Imperfecta
◽
Familial Case
◽
Phenotype Correlation
◽
Genotype Phenotype Correlation
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A rare case of centronuclear myopathy with DNM2 mutation: Genotype-phenotype correlation and review of articles
10.26226/morressier.578f37fed462b8028d88ffc4
◽
2016
◽
Author(s):
Amir Ghorbani
Keyword(s):
Rare Case
◽
Centronuclear Myopathy
◽
Phenotype Correlation
◽
Genotype Phenotype Correlation
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Clinical implications of genotype-phenotype correlation in multiple endocrine neoplasia type 2
10.31488/bjcr.1000106
◽
2018
◽
Vol 1
(2)
◽
Keyword(s):
Multiple Endocrine Neoplasia
◽
Multiple Endocrine Neoplasia Type
◽
Clinical Implications
◽
Phenotype Correlation
◽
Endocrine Neoplasia
◽
Genotype Phenotype Correlation
◽
Endocrine Neoplasia Type
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Faculty Opinions recommendation of Genotype phenotype correlation of 30 patients with Smith-Magenis syndrome (SMS) using comparative genome hybridisation array: cleft palate in SMS is associated with larger deletions.
Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature
◽
10.3410/f.1098522.554619
◽
2008
◽
Author(s):
Sue Malcolm
Keyword(s):
Cleft Palate
◽
Phenotype Correlation
◽
Comparative Genome
◽
Genotype Phenotype Correlation
◽
Comparative Genome Hybridisation
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Genotype–phenotype correlation in GNB1 ‐related neurodevelopmental disorder: Potential association of p. Leu95Pro with cleft palate
American Journal of Medical Genetics Part A
◽
10.1002/ajmg.a.62080
◽
2021
◽
Author(s):
Lisa A. Lansdon
◽
Carol J. Saunders
Keyword(s):
Cleft Palate
◽
Neurodevelopmental Disorder
◽
Phenotype Correlation
◽
Genotype Phenotype Correlation
◽
Potential Association
◽
Disorder Potential
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Genotype–phenotype correlation in Phelan‐McDermid syndrome: A comprehensive review of chromosome 22q13 deleted genes
American Journal of Medical Genetics Part A
◽
10.1002/ajmg.a.62222
◽
2021
◽
Author(s):
Arianna Ricciardello
◽
Pasquale Tomaiuolo
◽
Antonio M. Persico
Keyword(s):
Phenotype Correlation
◽
Comprehensive Review
◽
Genotype Phenotype Correlation
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Genotype‐phenotype correlation identified a novel SARS‐CoV‐2 variant possibly linked to severe disease
Transboundary and Emerging Diseases
◽
10.1111/tbed.14004
◽
2021
◽
Author(s):
Tom Loney
◽
Hamda Khansaheb
◽
Sathishkumar Ramaswamy
◽
Divinlal Harilal
◽
Zulfa Omar Deesi
◽
...
Keyword(s):
Severe Disease
◽
Phenotype Correlation
◽
Genotype Phenotype Correlation
Download Full-text
Olmsted Syndrome: Response to erlotinib therapy and genotype/phenotype correlation
Australasian Journal of Dermatology
◽
10.1111/ajd.13663
◽
2021
◽
Author(s):
Rowland Noakes
Keyword(s):
Phenotype Correlation
◽
Genotype Phenotype Correlation
◽
Erlotinib Therapy
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Genotype–phenotype correlation in Gordon’s syndrome: report of two cases carrying novel heterozygous mutations
Journal of Nephrology
◽
10.1007/s40620-021-01083-1
◽
2021
◽
Author(s):
Franca Anglani
◽
Leonardo Salviati
◽
Matteo Cassina
◽
Matteo Rigato
◽
Laura Gobbi
◽
...
Keyword(s):
Phenotype Correlation
◽
Genotype Phenotype Correlation
◽
Syndrome Report
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