A disorder of surfactant metabolism without identified genetic mutations

to related objects

Location: Deutsche Nationalbibliothek Frankfurt am Main

ISSN: 1824-7288

Extent: Online-Ressource

Language: Englisch

Notes: online resource.

Bibliographic citation: A disorder of surfactant metabolism without identified genetic mutations ; volume:41 ; number:1 ; day:25 ; month:11 ; year:2015 ; pages:1-4 ; date:12.2015
The Italian journal of pediatrics ; 41, Heft 1 (25.11.2015), 1-4, 12.2015

Creator: Montella, Silvia

Contributor: Vece, Timothy J.
Langston, Claire
Carrera, Paola
Nogee, Lawrence M.
Hamvas, Aaron
Manna, Angelo
Cervasio, Mariarosaria
Santamaria, Francesca
SpringerLink (Online service)

DOI: 10.1186/s13052-015-0198-3

URN: urn:nbn:de:1111-201609064463

Rights: Der Zugriff auf das Objekt ist unbeschränkt möglich.

Last update: 14.08.2025, 10:59 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

Montella, Silvia
Vece, Timothy J.
Langston, Claire
Carrera, Paola
Nogee, Lawrence M.
Hamvas, Aaron
Manna, Angelo
Cervasio, Mariarosaria
Santamaria, Francesca
SpringerLink (Online service)

Other Objects (12)

Novel compound heterozygous mutations in the OTOF Gene identified by whole-exome sequencing in auditory neuropathy spectrum disorder

Pathogenic/likely pathogenic mutations identified in Vietnamese children diagnosed with autism spectrum disorder using high-resolution SNP genotyping platform

Exome sequencing identified new mutations in a Marfan syndrome family

Hochschulschrift

Circulating tumour cell p53 mutations identified in blood from colorectal cancer patients

Vav1 mutations identified in human cancers give rise to different oncogenic phenotypes

Targeted next-generation sequencing identified novel mutations associated with hereditary anemias in Brazil

Whole exome sequencing identified mutations causing hearing loss in five consanguineous Pakistani families

Mutations in tumor suppressor p53 and deregulation of cellular metabolism

GWAS-identified bipolar disorder risk allele in the FADS1/2 gene region links mood episodes and unsaturated fatty acid metabolism in mutant mice

Structural brain change in Attention Deficit Hyperactivity Disorder identified by meta-analysis

Mutations in fibroblast growth factor (FGF8) and FGF10 identified in patients with conotruncal defects

Targeted next generation sequencing identified clinically actionable mutations in patients with esophageal sarcomatoid carcinoma

Novel compound heterozygous mutations in the OTOF Gene identified by whole-exome sequencing in auditory neuropathy spectrum disorder

Pathogenic/likely pathogenic mutations identified in Vietnamese children diagnosed with autism spectrum disorder using high-resolution SNP genotyping platform

Exome sequencing identified new mutations in a Marfan syndrome family

Hochschulschrift

Circulating tumour cell p53 mutations identified in blood from colorectal cancer patients

Vav1 mutations identified in human cancers give rise to different oncogenic phenotypes

Targeted next-generation sequencing identified novel mutations associated with hereditary anemias in Brazil

Whole exome sequencing identified mutations causing hearing loss in five consanguineous Pakistani families

Mutations in tumor suppressor p53 and deregulation of cellular metabolism

GWAS-identified bipolar disorder risk allele in the FADS1/2 gene region links mood episodes and unsaturated fatty acid metabolism in mutant mice

Structural brain change in Attention Deficit Hyperactivity Disorder identified by meta-analysis

Mutations in fibroblast growth factor (FGF8) and FGF10 identified in patients with conotruncal defects

Targeted next generation sequencing identified clinically actionable mutations in patients with esophageal sarcomatoid carcinoma

Novel compound heterozygous mutations in the OTOF Gene identified by whole-exome sequencing in auditory neuropathy spectrum disorder

Pathogenic/likely pathogenic mutations identified in Vietnamese children diagnosed with autism spectrum disorder using high-resolution SNP genotyping platform

Exome sequencing identified new mutations in a Marfan syndrome family

Hochschulschrift

Circulating tumour cell p53 mutations identified in blood from colorectal cancer patients

Vav1 mutations identified in human cancers give rise to different oncogenic phenotypes

Targeted next-generation sequencing identified novel mutations associated with hereditary anemias in Brazil

Whole exome sequencing identified mutations causing hearing loss in five consanguineous Pakistani families

Mutations in tumor suppressor p53 and deregulation of cellular metabolism

GWAS-identified bipolar disorder risk allele in the FADS1/2 gene region links mood episodes and unsaturated fatty acid metabolism in mutant mice

Structural brain change in Attention Deficit Hyperactivity Disorder identified by meta-analysis

Mutations in fibroblast growth factor (FGF8) and FGF10 identified in patients with conotruncal defects

Targeted next generation sequencing identified clinically actionable mutations in patients with esophageal sarcomatoid carcinoma

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.

A disorder of surfactant metabolism without identified genetic mutations

Object Details

References and Relationships

Contributors, Places and Time

Further information

Data provider

Associated

Other Objects (12)

Novel compound heterozygous mutations in the OTOF Gene identified by whole-exome sequencing in auditory neuropathy spectrum disorder

Pathogenic/likely pathogenic mutations identified in Vietnamese children diagnosed with autism spectrum disorder using high-resolution SNP genotyping platform

Exome sequencing identified new mutations in a Marfan syndrome family

Circulating tumour cell p53 mutations identified in blood from colorectal cancer patients

Vav1 mutations identified in human cancers give rise to different oncogenic phenotypes

Targeted next-generation sequencing identified novel mutations associated with hereditary anemias in Brazil

Whole exome sequencing identified mutations causing hearing loss in five consanguineous Pakistani families

Mutations in tumor suppressor p53 and deregulation of cellular metabolism

GWAS-identified bipolar disorder risk allele in the FADS1/2 gene region links mood episodes and unsaturated fatty acid metabolism in mutant mice

Structural brain change in Attention Deficit Hyperactivity Disorder identified by meta-analysis

Mutations in fibroblast growth factor (FGF8) and FGF10 identified in patients with conotruncal defects

Targeted next generation sequencing identified clinically actionable mutations in patients with esophageal sarcomatoid carcinoma

Novel compound heterozygous mutations in the OTOF Gene identified by whole-exome sequencing in auditory neuropathy spectrum disorder

Pathogenic/likely pathogenic mutations identified in Vietnamese children diagnosed with autism spectrum disorder using high-resolution SNP genotyping platform

Exome sequencing identified new mutations in a Marfan syndrome family

Circulating tumour cell p53 mutations identified in blood from colorectal cancer patients

Vav1 mutations identified in human cancers give rise to different oncogenic phenotypes

Targeted next-generation sequencing identified novel mutations associated with hereditary anemias in Brazil

Whole exome sequencing identified mutations causing hearing loss in five consanguineous Pakistani families

Mutations in tumor suppressor p53 and deregulation of cellular metabolism

GWAS-identified bipolar disorder risk allele in the FADS1/2 gene region links mood episodes and unsaturated fatty acid metabolism in mutant mice

Structural brain change in Attention Deficit Hyperactivity Disorder identified by meta-analysis

Mutations in fibroblast growth factor (FGF8) and FGF10 identified in patients with conotruncal defects

Targeted next generation sequencing identified clinically actionable mutations in patients with esophageal sarcomatoid carcinoma

Novel compound heterozygous mutations in the OTOF Gene identified by whole-exome sequencing in auditory neuropathy spectrum disorder

Pathogenic/likely pathogenic mutations identified in Vietnamese children diagnosed with autism spectrum disorder using high-resolution SNP genotyping platform

Exome sequencing identified new mutations in a Marfan syndrome family

Circulating tumour cell p53 mutations identified in blood from colorectal cancer patients

Vav1 mutations identified in human cancers give rise to different oncogenic phenotypes

Targeted next-generation sequencing identified novel mutations associated with hereditary anemias in Brazil

Whole exome sequencing identified mutations causing hearing loss in five consanguineous Pakistani families

Mutations in tumor suppressor p53 and deregulation of cellular metabolism

GWAS-identified bipolar disorder risk allele in the FADS1/2 gene region links mood episodes and unsaturated fatty acid metabolism in mutant mice

Structural brain change in Attention Deficit Hyperactivity Disorder identified by meta-analysis

Mutations in fibroblast growth factor (FGF8) and FGF10 identified in patients with conotruncal defects

Targeted next generation sequencing identified clinically actionable mutations in patients with esophageal sarcomatoid carcinoma

Related objects

Reset password