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1.
Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848.
Am J Hum Genet
; 102(1): 69-87, 2018 01 04.
Article
in English
| MEDLINE | ID: mdl-29290338
2.
Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1.
Hum Mutat
; 41(1): 299-315, 2020 01.
Article
in English
| MEDLINE | ID: mdl-31595648
3.
Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.
Genet Med
; 21(3): 764-765, 2019 03.
Article
in English
| MEDLINE | ID: mdl-30275510
4.
Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.
Genet Med
; 21(4): 867-876, 2019 04.
Article
in English
| MEDLINE | ID: mdl-30190611
5.
High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation.
Hum Mutat
; 36(11): 1052-63, 2015 Nov.
Article
in English
| MEDLINE | ID: mdl-26178382
6.
Stable limit cycles and the paradox of enrichment in a model of chronic wasting disease.
Ecol Appl
; 21(4): 1024-30, 2011 Jun.
Article
in English
| MEDLINE | ID: mdl-21774409
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