MENU
Home
Add Document
Sign In
Create An Account
PDF Reader
Full Text
Suggest Documents
A novel rasopathy caused by recurrent de novo missense mutations in PPP1CB closely resembles Noonan syndrome with loose anagen hair.
[Prenatal diagnosis of Apert syndrome caused by de novo mutation in FGFR2 gene].
A novel mutation in fibrillin-1 gene identified in a Chinese family with marfan syndrome.
A novel fibrillin-1 gene missense mutation associated with neonatal Marfan syndrome: a case report and review of the mutation spectrum.
Congenital Hyperinsulinism Caused by a De Novo Mutation in the ABCC8 Gene - A Case Report.
A novel fibrillin 1 gene mutation leading to marfan syndrome with minimal cardiac features.
De novo REEP2 missense mutation in pure hereditary spastic paraplegia.
Fibrillin (FBN1) mutations in Marfan syndrome.
De novo R853Q mutation of SCN2A gene and West syndrome.
Marfan phenotype variability in a family segregating a missense mutation in the epidermal growth factor-like motif of the fibrillin gene.
Novel missense mutation in the COL3A1 gene caused vascular Ehlers-Danlos syndrome in a Chinese family.
Infantile epileptic encephalopathy, transient choreoathetotic movements, and hypersomnia due to a De Novo missense mutation in the SCN2A gene.
Feline cystinuria caused by a missense mutation in the SLC3A1 gene.
Two mutations in Marfan syndrome resulting in truncated fibrillin polypeptides.
A de novo missense mutation in ZMYND11 is associated with global developmental delay, seizures, and hypotonia.
Ichthyosis prematurity syndrome caused by a novel missense mutation in FATP4 gene-a case report from India.
De novo mutation in the COL4A5 gene converting glycine 325 to glutamic acid in Alport syndrome.
De novo dominant mutation of SOX10 gene in a Chinese family with Waardenburg syndrome type II.
De Novo Mutation of Paternal IGF2 Gene Causing Silver-Russell Syndrome in a Sporadic Patient.
Clustering of fibrillin (FBN1) missense mutations in Marfan syndrome patients at cysteine residues in EGF-like domains.
Cole-Carpenter syndrome is caused by a heterozygous missense mutation in P4HB.
SNF-related autism syndrome caused by de novo mutations in ADNP.
De novo mutation in a choroideremia carrier.
Identification of a de novo heterozygous missense FLNB mutation in lethal atelosteogenesis type I by exome sequencing.
Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene.
Marfan syndrome is an inherited disorder of connective tissue manifested in the ocular, skeletal and cardiovascular systems. It is inherited as an aut...
453KB Sizes
0 Downloads
0 Views
Download PDF
Recommend Documents
A novel rasopathy caused by recurrent de novo missense mutations in PPP1CB closely resembles Noonan syndrome with loose anagen hair.
[Prenatal diagnosis of Apert syndrome caused by de novo mutation in FGFR2 gene].
A novel mutation in fibrillin-1 gene identified in a Chinese family with marfan syndrome.
A novel fibrillin-1 gene missense mutation associated with neonatal Marfan syndrome: a case report and review of the mutation spectrum.
Congenital Hyperinsulinism Caused by a De Novo Mutation in the ABCC8 Gene - A Case Report.
A novel fibrillin 1 gene mutation leading to marfan syndrome with minimal cardiac features.
De novo REEP2 missense mutation in pure hereditary spastic paraplegia.
Fibrillin (FBN1) mutations in Marfan syndrome.
De novo R853Q mutation of SCN2A gene and West syndrome.
Marfan phenotype variability in a family segregating a missense mutation in the epidermal growth factor-like motif of the fibrillin gene.
×
Sign In
Login with Facebook
Don't have an account?
Forgot Password?
×
Sign Up
By clicking register, I agree to your terms