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Genotype–phenotype correlation in Gordon’s syndrome: report of two cases carrying novel heterozygous mutations
Journal of Nephrology
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10.1007/s40620-021-01083-1
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2021
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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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A familial case of osteogenesis imperfecta: study of genotype-phenotype correlation
Bone Abstracts
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10.1530/boneabs.2.p160
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2013
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Author(s):
Ponti Emanuela
◽
Mihalich Alessandra
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Broggi Francesca
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Maria Di Blasio Anna
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Luisa Bianchi Maria
Keyword(s):
Osteogenesis Imperfecta
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Familial Case
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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
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2016
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Author(s):
Amir Ghorbani
Keyword(s):
Rare Case
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Centronuclear Myopathy
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Phenotype Correlation
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Genotype Phenotype Correlation
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Clinical implications of genotype-phenotype correlation in multiple endocrine neoplasia type 2
10.31488/bjcr.1000106
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2018
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Vol 1
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Keyword(s):
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Multiple Endocrine Neoplasia Type
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Clinical Implications
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Phenotype Correlation
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Endocrine Neoplasia
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Genotype Phenotype Correlation
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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
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10.3410/f.1098522.554619
◽
2008
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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
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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
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10.1002/ajmg.a.62222
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2021
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Author(s):
Arianna Ricciardello
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Pasquale Tomaiuolo
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Antonio M. Persico
Keyword(s):
Phenotype Correlation
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Comprehensive Review
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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
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10.1111/tbed.14004
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2021
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Author(s):
Tom Loney
◽
Hamda Khansaheb
◽
Sathishkumar Ramaswamy
◽
Divinlal Harilal
◽
Zulfa Omar Deesi
◽
...
Keyword(s):
Severe Disease
◽
Phenotype Correlation
◽
Genotype Phenotype Correlation
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Olmsted Syndrome: Response to erlotinib therapy and genotype/phenotype correlation
Australasian Journal of Dermatology
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10.1111/ajd.13663
◽
2021
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Author(s):
Rowland Noakes
Keyword(s):
Phenotype Correlation
◽
Genotype Phenotype Correlation
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Erlotinib Therapy
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Genotype–phenotype correlation in WT1 exon 8 to 9 missense variants
Kidney International Reports
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10.1016/j.ekir.2021.05.009
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2021
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Author(s):
China Nagano
◽
Yutaka Takaoka
◽
Koichi Kamei
◽
Riku Hamada
◽
Daisuke Ichikawa
◽
...
Keyword(s):
Phenotype Correlation
◽
Missense Variants
◽
Genotype Phenotype Correlation
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Roussy-Lévy syndrome: a case of genotype–phenotype correlation
Neurological Sciences
◽
10.1007/s10072-021-05451-4
◽
2021
◽
Author(s):
Ettore Cioffi
◽
Valeria Gioiosa
◽
Mariano Serrao
◽
Carlo Casali
Keyword(s):
Phenotype Correlation
◽
Genotype Phenotype Correlation
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