Development and validation of a multiplex-PCR assay for X-linked intellectual disability

to related objects

Location: Deutsche Nationalbibliothek Frankfurt am Main

ISSN: 1471-2350

Extent: Online-Ressource

Language: Englisch

Notes: online resource.

Bibliographic citation: Development and validation of a multiplex-PCR assay for X-linked intellectual disability ; volume:14 ; number:1 ; day:5 ; month:8 ; year:2013 ; pages:1-11 ; date:12.2013
BMC medical genetics ; 14, Heft 1 (5.8.2013), 1-11, 12.2013

Creator: Jorge, Paula

Contributor: Oliveira, Barbara
Marques, Isabel
Santos, Rosário
SpringerLink (Online service)

DOI: 10.1186/1471-2350-14-80

URN: urn:nbn:de:1111-2016071516210

Rights: Der Zugriff auf das Objekt ist unbeschränkt möglich.

Last update: 14.08.2025, 10:44 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

Jorge, Paula
Oliveira, Barbara
Marques, Isabel
Santos, Rosário
SpringerLink (Online service)

Other Objects (12)

X-linked intellectual disability related to a novel variant of KLHL15

Exons deletion of CNKSR2 gene identified in X-linked syndromic intellectual disability

Publisher Correction: Impaired oxidative stress response characterizes HUWE1-promoted X-linked intellectual disability

HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients

The X-linked intellectual disability gene CUL4B is critical for memory and synaptic function

X-linked intellectual disability gene CASK regulates postnatal brain growth in a non-cell autonomous manner

Autosomal dominant intellectual disability

Screening of the duplication 24 pb of ARX gene in Moroccan patients with X-linked Intellectual Disability

Novel CLCN4 variant associated with syndromic X-linked intellectual disability in a Chinese girl: a case report

Multiplex quadruple bioluminescent assay system

Mapping the landscape of tandem repeat variability by targeted long read single molecule sequencing in familial X-linked intellectual disability

Genetics of autosomal recessive intellectual disability

X-linked intellectual disability related to a novel variant of KLHL15

Exons deletion of CNKSR2 gene identified in X-linked syndromic intellectual disability

Publisher Correction: Impaired oxidative stress response characterizes HUWE1-promoted X-linked intellectual disability

HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients

The X-linked intellectual disability gene CUL4B is critical for memory and synaptic function

X-linked intellectual disability gene CASK regulates postnatal brain growth in a non-cell autonomous manner

Autosomal dominant intellectual disability

Screening of the duplication 24 pb of ARX gene in Moroccan patients with X-linked Intellectual Disability

Novel CLCN4 variant associated with syndromic X-linked intellectual disability in a Chinese girl: a case report

Multiplex quadruple bioluminescent assay system

Mapping the landscape of tandem repeat variability by targeted long read single molecule sequencing in familial X-linked intellectual disability

Genetics of autosomal recessive intellectual disability

X-linked intellectual disability related to a novel variant of KLHL15

Exons deletion of CNKSR2 gene identified in X-linked syndromic intellectual disability

Publisher Correction: Impaired oxidative stress response characterizes HUWE1-promoted X-linked intellectual disability

HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients

The X-linked intellectual disability gene CUL4B is critical for memory and synaptic function

X-linked intellectual disability gene CASK regulates postnatal brain growth in a non-cell autonomous manner

Autosomal dominant intellectual disability

Screening of the duplication 24 pb of ARX gene in Moroccan patients with X-linked Intellectual Disability

Novel CLCN4 variant associated with syndromic X-linked intellectual disability in a Chinese girl: a case report

Multiplex quadruple bioluminescent assay system

Mapping the landscape of tandem repeat variability by targeted long read single molecule sequencing in familial X-linked intellectual disability

Genetics of autosomal recessive intellectual disability

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 and agree to the privacy policy for the collection of personal data.*

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.

Development and validation of a multiplex-PCR assay for X-linked intellectual disability

Show object

References and Relationships

Contributors, Places and Time

Further information

Data provider

Associated

Other Objects (12)

X-linked intellectual disability related to a novel variant of KLHL15

Exons deletion of CNKSR2 gene identified in X-linked syndromic intellectual disability

Publisher Correction: Impaired oxidative stress response characterizes HUWE1-promoted X-linked intellectual disability

HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients

The X-linked intellectual disability gene CUL4B is critical for memory and synaptic function

X-linked intellectual disability gene CASK regulates postnatal brain growth in a non-cell autonomous manner

Autosomal dominant intellectual disability

Screening of the duplication 24 pb of ARX gene in Moroccan patients with X-linked Intellectual Disability

Novel CLCN4 variant associated with syndromic X-linked intellectual disability in a Chinese girl: a case report

Multiplex quadruple bioluminescent assay system

Mapping the landscape of tandem repeat variability by targeted long read single molecule sequencing in familial X-linked intellectual disability

Genetics of autosomal recessive intellectual disability

X-linked intellectual disability related to a novel variant of KLHL15

Exons deletion of CNKSR2 gene identified in X-linked syndromic intellectual disability

Publisher Correction: Impaired oxidative stress response characterizes HUWE1-promoted X-linked intellectual disability

HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients

The X-linked intellectual disability gene CUL4B is critical for memory and synaptic function

X-linked intellectual disability gene CASK regulates postnatal brain growth in a non-cell autonomous manner

Autosomal dominant intellectual disability

Screening of the duplication 24 pb of ARX gene in Moroccan patients with X-linked Intellectual Disability

Novel CLCN4 variant associated with syndromic X-linked intellectual disability in a Chinese girl: a case report

Multiplex quadruple bioluminescent assay system

Mapping the landscape of tandem repeat variability by targeted long read single molecule sequencing in familial X-linked intellectual disability

Genetics of autosomal recessive intellectual disability

X-linked intellectual disability related to a novel variant of KLHL15

Exons deletion of CNKSR2 gene identified in X-linked syndromic intellectual disability

Publisher Correction: Impaired oxidative stress response characterizes HUWE1-promoted X-linked intellectual disability

HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients

The X-linked intellectual disability gene CUL4B is critical for memory and synaptic function

X-linked intellectual disability gene CASK regulates postnatal brain growth in a non-cell autonomous manner

Autosomal dominant intellectual disability

Screening of the duplication 24 pb of ARX gene in Moroccan patients with X-linked Intellectual Disability

Novel CLCN4 variant associated with syndromic X-linked intellectual disability in a Chinese girl: a case report

Multiplex quadruple bioluminescent assay system

Mapping the landscape of tandem repeat variability by targeted long read single molecule sequencing in familial X-linked intellectual disability

Genetics of autosomal recessive intellectual disability

Related objects

Reset password