Whole-exome sequencing identifies a novel mutation in spermine synthase gene (SMS) associated with Snyder-Robinson Syndrome

to related objects

Location: Deutsche Nationalbibliothek Frankfurt am Main

ISSN: 1471-2350

Extent: Online-Ressource

Language: Englisch

Notes: online resource.

Bibliographic citation: Whole-exome sequencing identifies a novel mutation in spermine synthase gene (SMS) associated with Snyder-Robinson Syndrome ; volume:21 ; number:1 ; day:24 ; month:8 ; year:2020 ; pages:1-7 ; date:12.2020
BMC medical genetics ; 21, Heft 1 (24.8.2020), 1-7, 12.2020

Creator: Qazi, Talal J.
Wu, Qiao
Aierken, Ailikemu
Lu, Daru
Bukhari, Ihtisham
Hussain, Hafiz M. J.
Yang, Jingmin
Mir, Asif
Qing, Hong

Contributor: SpringerLink (Online service)

DOI: 10.1186/s12881-020-01095-x

URN: urn:nbn:de:101:1-2020101222280928429046

Rights: Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.

Last update: 14.08.2025, 11:02 AM CEST

Data provider

This object is provided by:
Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.

Show original at data provider

Associated

Qazi, Talal J.
Wu, Qiao
Aierken, Ailikemu
Lu, Daru
Bukhari, Ihtisham
Hussain, Hafiz M. J.
Yang, Jingmin
Mir, Asif
Qing, Hong
SpringerLink (Online service)

Other Objects (12)

Whole-exome sequencing of a pedigree segregating asthma

Spermine synthase deficiency causes lysosomal dysfunction and oxidative stress in models of Snyder-Robinson syndrome

Comprehensive comparison of three commercial human whole-exome capture platforms

Human whole-exome genotype data for Alzheimer’s disease

Genomic alterations in gastric cancers discovered via whole-exome sequencing

EXCAVATOR: detecting copy number variants from whole-exome sequencing data

Azoospermia and reciprocal translocations: should whole-exome sequencing be recommended?

WEP: a high-performance analysis pipeline for whole-exome data

Whole-exome analysis of 177 pediatric patients with undiagnosed diseases

Whole-exome sequencing reveals the origin and evolution of hepato-cholangiocarcinoma

Whole-exome sequencing applications in prenatal diagnosis of fetal bowel dilatation

Whole-exome sequencing in 168 Korean patients with inherited retinal degeneration

Whole-exome sequencing of a pedigree segregating asthma

Spermine synthase deficiency causes lysosomal dysfunction and oxidative stress in models of Snyder-Robinson syndrome

Comprehensive comparison of three commercial human whole-exome capture platforms

Human whole-exome genotype data for Alzheimer’s disease

Genomic alterations in gastric cancers discovered via whole-exome sequencing

EXCAVATOR: detecting copy number variants from whole-exome sequencing data

Azoospermia and reciprocal translocations: should whole-exome sequencing be recommended?

WEP: a high-performance analysis pipeline for whole-exome data

Whole-exome analysis of 177 pediatric patients with undiagnosed diseases

Whole-exome sequencing reveals the origin and evolution of hepato-cholangiocarcinoma

Whole-exome sequencing applications in prenatal diagnosis of fetal bowel dilatation

Whole-exome sequencing in 168 Korean patients with inherited retinal degeneration

Whole-exome sequencing of a pedigree segregating asthma

Spermine synthase deficiency causes lysosomal dysfunction and oxidative stress in models of Snyder-Robinson syndrome

Comprehensive comparison of three commercial human whole-exome capture platforms

Human whole-exome genotype data for Alzheimer’s disease

Genomic alterations in gastric cancers discovered via whole-exome sequencing

EXCAVATOR: detecting copy number variants from whole-exome sequencing data

Azoospermia and reciprocal translocations: should whole-exome sequencing be recommended?

WEP: a high-performance analysis pipeline for whole-exome data

Whole-exome analysis of 177 pediatric patients with undiagnosed diseases

Whole-exome sequencing reveals the origin and evolution of hepato-cholangiocarcinoma

Whole-exome sequencing applications in prenatal diagnosis of fetal bowel dilatation

Whole-exome sequencing in 168 Korean patients with inherited retinal degeneration

Cultural heritage institutions wishing to register will find more information here.

Fields marked * need to be filled in.

Username*

Please enter your username

Email*

Please enter your email address

Please do not fill this field

First name

Last name

Password*

Please enter your password

Confirm password*

Please enter the same password

I have read the terms of use and the privacy policy for the collection of personal data and accept them. *

This field is required.

I would like to subscribe to the newsletter of the Deutsche Digitale Bibliothek. See newsletter subscription info.

Account created

Your "My DDB" account has been successfully created. Before you can log in to your account, you must click the confirmation link in the message we just sent to the email address you provided.

Whole-exome sequencing identifies a novel mutation in spermine synthase gene (SMS) associated with Snyder-Robinson Syndrome

Object Details

References and Relationships

Contributors, Places and Time

Further information

Data provider

Associated

Other Objects (12)

Whole-exome sequencing of a pedigree segregating asthma

Spermine synthase deficiency causes lysosomal dysfunction and oxidative stress in models of Snyder-Robinson syndrome

Comprehensive comparison of three commercial human whole-exome capture platforms

Human whole-exome genotype data for Alzheimer’s disease

Genomic alterations in gastric cancers discovered via whole-exome sequencing

EXCAVATOR: detecting copy number variants from whole-exome sequencing data

Azoospermia and reciprocal translocations: should whole-exome sequencing be recommended?

WEP: a high-performance analysis pipeline for whole-exome data

Whole-exome analysis of 177 pediatric patients with undiagnosed diseases

Whole-exome sequencing reveals the origin and evolution of hepato-cholangiocarcinoma

Whole-exome sequencing applications in prenatal diagnosis of fetal bowel dilatation

Whole-exome sequencing in 168 Korean patients with inherited retinal degeneration

Whole-exome sequencing of a pedigree segregating asthma

Spermine synthase deficiency causes lysosomal dysfunction and oxidative stress in models of Snyder-Robinson syndrome

Comprehensive comparison of three commercial human whole-exome capture platforms

Human whole-exome genotype data for Alzheimer’s disease

Genomic alterations in gastric cancers discovered via whole-exome sequencing

EXCAVATOR: detecting copy number variants from whole-exome sequencing data

Azoospermia and reciprocal translocations: should whole-exome sequencing be recommended?

WEP: a high-performance analysis pipeline for whole-exome data

Whole-exome analysis of 177 pediatric patients with undiagnosed diseases

Whole-exome sequencing reveals the origin and evolution of hepato-cholangiocarcinoma

Whole-exome sequencing applications in prenatal diagnosis of fetal bowel dilatation

Whole-exome sequencing in 168 Korean patients with inherited retinal degeneration

Whole-exome sequencing of a pedigree segregating asthma

Spermine synthase deficiency causes lysosomal dysfunction and oxidative stress in models of Snyder-Robinson syndrome

Comprehensive comparison of three commercial human whole-exome capture platforms

Human whole-exome genotype data for Alzheimer’s disease

Genomic alterations in gastric cancers discovered via whole-exome sequencing

EXCAVATOR: detecting copy number variants from whole-exome sequencing data

Azoospermia and reciprocal translocations: should whole-exome sequencing be recommended?

WEP: a high-performance analysis pipeline for whole-exome data

Whole-exome analysis of 177 pediatric patients with undiagnosed diseases

Whole-exome sequencing reveals the origin and evolution of hepato-cholangiocarcinoma

Whole-exome sequencing applications in prenatal diagnosis of fetal bowel dilatation

Whole-exome sequencing in 168 Korean patients with inherited retinal degeneration

Related objects

Reset password