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MFSD8 gene mutations; evidence for phenotypic heterogeneity
Ophthalmic Genetics
◽
10.1080/13816810.2019.1592200
◽
2019
◽
Vol 40
(2)
◽
pp. 141-145
◽
Cited By ~ 3
Author(s):
Davood Zare-Abdollahi
◽
Ata Bushehri
◽
Afagh Alavi
◽
Alireza Dehghani
◽
Mohammadreza Mousavi-Mirkala
◽
...
Keyword(s):
Gene Mutations
◽
Phenotypic Heterogeneity
◽
Mfsd8 Gene
Download Full-text
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References
An anadysplasia-like, spontaneously remitting spondylometaphyseal dysplasia secondary to lamin B receptor (LBR) gene mutations: Further definition of the phenotypic heterogeneity ofLBR-bone dysplasias
American Journal of Medical Genetics Part A
◽
10.1002/ajmg.a.36808
◽
2014
◽
Vol 167
(1)
◽
pp. 159-163
◽
Cited By ~ 7
Author(s):
Nara Sobreira
◽
Peggy Modaff
◽
Gary Steel
◽
Jing You
◽
Sonia Nanda
◽
...
Keyword(s):
Gene Mutations
◽
Phenotypic Heterogeneity
◽
Lamin B
◽
Lamin B Receptor
◽
Bone Dysplasias
◽
Spondylometaphyseal Dysplasia
◽
Definition Of
Download Full-text
Diverse dystonin gene mutations cause distinct patterns of Dst isoform deficiency and phenotypic heterogeneity in Dystonia musculorum mice
Disease Models & Mechanisms
◽
10.1242/dmm.041608
◽
2020
◽
Vol 13
(5)
◽
pp. dmm041608
Author(s):
Nozomu Yoshioka
◽
Yudai Kabata
◽
Momona Kuriyama
◽
Norihisa Bizen
◽
Li Zhou
◽
...
Keyword(s):
Gene Mutations
◽
Phenotypic Heterogeneity
◽
Dystonia Musculorum
Download Full-text
Phenotypic Heterogeneity of Sarcomeric Gene Mutations
Journal of the American College of Cardiology
◽
10.1016/j.jacc.2009.04.029
◽
2009
◽
Vol 54
(4)
◽
pp. 343-345
◽
Cited By ~ 7
Author(s):
Luisa Mestroni
Keyword(s):
Gene Mutations
◽
Phenotypic Heterogeneity
◽
Sarcomeric Gene
Download Full-text
Functional characterization of insulin receptor gene mutations contributing to Rabson-Mendenhall syndrome - phenotypic heterogeneity of insulin receptor gene mutations
Endocrine Journal
◽
10.1507/endocrj.ej11-0032
◽
2011
◽
Vol 58
(11)
◽
pp. 931-940
◽
Cited By ~ 9
Author(s):
Shan Jiang
◽
Qichen Fang
◽
Feng Zhang
◽
Hui Wan
◽
Rong Zhang
◽
...
Keyword(s):
Insulin Receptor
◽
Receptor Gene
◽
Functional Characterization
◽
Gene Mutations
◽
Phenotypic Heterogeneity
◽
Insulin Receptor Gene
Download Full-text
WT1 GENE MUTATIONS IN DENYS‐DRASH AND FRASIER SYNDROME
Nephrology
◽
10.1046/j.1440-1797.2000.abs94.x
◽
2000
◽
Vol 5
(3)
◽
pp. A110-A110
Author(s):
McTaggart Sj
◽
Algar E
◽
Chow Cw
◽
Powell Hr
◽
Jones CL.
Keyword(s):
Gene Mutations
◽
Wt1 Gene
◽
Frasier Syndrome
Download Full-text
W14.379 Novel LDL-receptor gene mutations in Russian patients with familial hypercholesterolaemia
Atherosclerosis
◽
10.1016/s0021-9150(04)90378-4
◽
2004
◽
Vol 5
(1)
◽
pp. 88
Author(s):
A MESHKOV
Keyword(s):
Familial Hypercholesterolaemia
◽
Receptor Gene
◽
Ldl Receptor
◽
Gene Mutations
Download Full-text
M.484 Novel CYP3A4 gene mutations: Contribution to the pharmacogenetic profile of hypercholesterolemic individuals treated with atorvastin
Atherosclerosis
◽
10.1016/s0021-9150(04)90482-0
◽
2004
◽
Vol 5
(1)
◽
pp. 112
Author(s):
S CAVALLI
Keyword(s):
Gene Mutations
◽
Cyp3a4 Gene
Download Full-text
1068: TP53 Gene Mutations as a Prognostic Marker for PSA Progression in Early Stage Prostate Cancer
The Journal of Urology
◽
10.1016/s0022-5347(18)38305-8
◽
2004
◽
Vol 171
(4S)
◽
pp. 282-282
Author(s):
Markus D. Sachs
◽
Horst Schlechte
◽
Katrin Schiemenz
◽
Severin V. Lenk
◽
Dietmar Schnorr
◽
...
Keyword(s):
Prostate Cancer
◽
Prognostic Marker
◽
Early Stage
◽
Gene Mutations
◽
Tp53 Gene
◽
Psa Progression
◽
Tp53 Gene Mutations
Download Full-text
EGF Receptor Gene Mutations Are Common in Lung Cancers From “Never Smokers” and Are Associated With Sensitivity of Tumors to Gefitinib and Erlotinib
Yearbook of Oncology
◽
10.1016/s1040-1741(08)70157-x
◽
2006
◽
Vol 2006
◽
pp. 223-225
Author(s):
N.H. Hanna
Keyword(s):
Egf Receptor
◽
Receptor Gene
◽
Gene Mutations
◽
Lung Cancers
◽
Never Smokers
Download Full-text
Abstract #942: A Rare Case of Dopamine Secreting Paraganglioma (PGL) in a Patient with SDHB and a Variant of Unknown Significance in Tmem127 Gene Mutations
Endocrine Practice
◽
10.1016/s1530-891x(20)45232-2
◽
2016
◽
Vol 22
◽
pp. 217
Author(s):
Rujuta Katkar
◽
Adel Hanna
◽
Akshata Desai
◽
Antoine Makdissi
Keyword(s):
Rare Case
◽
Gene Mutations
◽
Variant Of Unknown Significance
◽
Unknown Significance
Download Full-text
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