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Functional analysis of mutations in SLC7A9, and genotype–phenotype correlation in non-Type I cystinuria
Human Molecular Genetics
◽
10.1093/hmg/10.4.305
◽
2001
◽
Vol 10
(4)
◽
pp. 305-316
◽
Cited By ~ 97
Author(s):
Mariona Font
◽
Lídia Feliubadaló
◽
Xavier Estivill
◽
Virginia Nunes
◽
Eliahu Golomb
◽
...
Keyword(s):
Functional Analysis
◽
Type I
◽
Phenotype Correlation
◽
Genotype Phenotype Correlation
Download Full-text
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Cited By
References
Functional analysis of mutations in the OCTN2 transporter causing primary carnitine deficiency: Lack of genotype-phenotype correlation
Human Mutation
◽
10.1002/1098-1004(200011)16:5<401::aid-humu4>3.0.co;2-j
◽
2000
◽
Vol 16
(5)
◽
pp. 401-407
◽
Cited By ~ 46
Author(s):
Yuhuan Wang
◽
Franco Taroni
◽
Barbara Garavaglia
◽
Nicola Longo
Keyword(s):
Functional Analysis
◽
Carnitine Deficiency
◽
Phenotype Correlation
◽
Genotype Phenotype Correlation
◽
Primary Carnitine Deficiency
Download Full-text
Genotype-Phenotype Correlation, Colonic Transcription and Functional Analysis Implicate Vav3 in Colitis
Gastroenterology
◽
10.1016/s0016-5085(11)60716-6
◽
2011
◽
Vol 140
(5)
◽
pp. S-177
Author(s):
Scott E. Levison
◽
Paul Fisher
◽
John McLaughlin
◽
Richard K. Grencis
◽
Joanne L. Pennock
Keyword(s):
Functional Analysis
◽
Phenotype Correlation
◽
Genotype Phenotype Correlation
Download Full-text
Molecular etiology and genotype-phenotype correlation of Chinese Han deaf patients with type I and type II Waardenburg Syndrome
Scientific Reports
◽
10.1038/srep35498
◽
2016
◽
Vol 6
(1)
◽
Cited By ~ 11
Author(s):
Lianhua Sun
◽
Xiaohua Li
◽
Jun Shi
◽
Xiuhong Pang
◽
Yechen Hu
◽
...
Keyword(s):
Type I
◽
Type Ii
◽
Waardenburg Syndrome
◽
Phenotype Correlation
◽
Chinese Han
◽
Genotype Phenotype Correlation
◽
Molecular Etiology
Download Full-text
Genotype-phenotype correlation in 18 Egyptian patients with glutaric acidemia type I
Metabolic Brain Disease
◽
10.1007/s11011-017-0006-4
◽
2017
◽
Vol 32
(5)
◽
pp. 1417-1426
◽
Cited By ~ 29
Author(s):
Ahmed Mosaeilhy
◽
Magdy M. Mohamed
◽
George Priya Doss C
◽
Heba S. A. El Abd
◽
Radwa Gamal
◽
...
Keyword(s):
Type I
◽
Phenotype Correlation
◽
Glutaric Acidemia Type I
◽
Genotype Phenotype Correlation
◽
Egyptian Patients
Download Full-text
A novel mutation in the AGXT gene causing primary hyperoxaluria type I: genotype–phenotype correlation
Journal of Genetics
◽
10.1007/s12041-016-0676-4
◽
2016
◽
Vol 95
(3)
◽
pp. 659-666
◽
Cited By ~ 3
Author(s):
SAOUSSEN M’DIMEGH
◽
CÉCILE AQUAVIVA-BOURDAIN
◽
ASMA OMEZZINE
◽
IBTIHEL M’BAREK
◽
GENEVIÉVE SOUCHE
◽
...
Keyword(s):
Novel Mutation
◽
Primary Hyperoxaluria
◽
Type I
◽
Phenotype Correlation
◽
Primary Hyperoxaluria Type
◽
Genotype Phenotype Correlation
◽
Hyperoxaluria Type I
◽
Primary Hyperoxaluria Type I
◽
Agxt Gene
◽
Hyperoxaluria Type
Download Full-text
Type I Procollagen C-Propeptide Defects: Study of Genotype-Phenotype Correlation and Predictive Role of Crystal Structure
Human Mutation
◽
10.1002/humu.22677
◽
2014
◽
pp. n/a-n/a
◽
Cited By ~ 6
Author(s):
Sofie Symoens
◽
David J.S. Hulmes
◽
Jean-Marie Bourhis
◽
Paul J. Coucke
◽
Anne De Paepe
◽
...
Keyword(s):
Crystal Structure
◽
Type I
◽
Phenotype Correlation
◽
Type I Procollagen
◽
Genotype Phenotype Correlation
◽
Predictive Role
Download Full-text
Cloning of multiple K16 genes and genotype-phenotype correlation in pachyonychia congenita type I and focal PPK
Journal of Dermatological Science
◽
10.1016/s0923-1811(98)83179-4
◽
1998
◽
Vol 16
◽
pp. S31
Author(s):
Frances J.D. Smith
◽
Peter M. Steijlen
◽
Kevin McKenna
◽
Eugene Healy
◽
Jonathan L. Rees
◽
...
Keyword(s):
Type I
◽
Phenotype Correlation
◽
Genotype Phenotype Correlation
◽
Pachyonychia Congenita
Download Full-text
NF1 Molecular Characterization and Neurofibromatosis Type I Genotype-Phenotype Correlation: The French Experience
Human Mutation
◽
10.1002/humu.22392
◽
2013
◽
Vol 34
(11)
◽
pp. 1510-1518
◽
Cited By ~ 71
Author(s):
Audrey Sabbagh
◽
Eric Pasmant
◽
Apolline Imbard
◽
Armelle Luscan
◽
Magali Soares
◽
...
Keyword(s):
Molecular Characterization
◽
Neurofibromatosis Type
◽
Type I
◽
Neurofibromatosis Type I
◽
Phenotype Correlation
◽
Genotype Phenotype Correlation
◽
French Experience
Download Full-text
Novel UBA Domain Mutations of SQSTM1 in Paget's Disease of Bone: Genotype Phenotype Correlation, Functional Analysis, and Structural Consequences
Journal of Bone and Mineral Research
◽
10.1359/jbmr.0403015
◽
2004
◽
Vol 19
(7)
◽
pp. 1122-1127
◽
Cited By ~ 121
Author(s):
Lynne J Hocking
◽
Gavin JA Lucas
◽
Anna Daroszewska
◽
Tim Cundy
◽
Geoff C Nicholson
◽
...
Keyword(s):
Functional Analysis
◽
Paget’S Disease
◽
Paget's Disease
◽
Paget’S Disease Of Bone
◽
Paget's Disease Of Bone
◽
Phenotype Correlation
◽
Genotype Phenotype Correlation
◽
Uba Domain
Download Full-text
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
Download Full-text
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