Pathogenic variants of Alport syndrome and monogenic diabetes identified by exome sequencing in a family

to related objects

Location: Deutsche Nationalbibliothek Frankfurt am Main

Extent: 1 Online-Ressource.

Language: Englisch

Bibliographic citation: Pathogenic variants of Alport syndrome and monogenic diabetes identified by exome sequencing in a family ; volume:10 ; number:1 ; day:2 ; month:2 ; year:2023 ; pages:1-3 ; date:12.2023
Human genome variation ; 10, Heft 1 (2.2.2023), 1-3, 12.2023

Creator: Watanabe, Hirofumi
Goto, Shin
Hosojima, Michihiro
Kabasawa, Hideyuki
Imai, Naofumi
Ito, Yumi
Narita, Ichiei

Contributor: SpringerLink (Online service)

DOI: 10.1038/s41439-023-00233-0

URN: urn:nbn:de:101:1-2024032510183228689965

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

Last update: 14.08.2025, 10:54 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

Watanabe, Hirofumi
Goto, Shin
Hosojima, Michihiro
Kabasawa, Hideyuki
Imai, Naofumi
Ito, Yumi
Narita, Ichiei
SpringerLink (Online service)

Other Objects (12)

Exome Sequencing in Monogenic Forms of Rickets

Pathogenic variants identified by whole-exome sequencing in 43 patients with epilepsy

Monogenic Causes in Familial Stroke Across Intracerebral Hemorrhage and Ischemic Stroke Subtypes Identified by Whole-Exome Sequencing

Exome QTL-seq maps monogenic locus and QTLs in barley

A Pathogenic Variant of PBX1 Identified by Whole Exome Sequencing in a Chinese CAKUTHED Case

TCOF1 pathogenic variants identified by Whole-exome sequencing in Chinese Treacher Collins syndrome families and hearing rehabilitation effect

Trigenic COL4A3/COL4A4/COL4A5 Pathogenic Variants in Alport Syndrome: A Case Report

The homozygous pathogenic variant of the POMGNT1 gene identified using whole-exome sequencing in Iranian family with congenital hydrocephalus

Hochschulschrift

Genotyp-Phänotyp-Korrelation bei Alport-Patientinnen und Alport-Patienten

Screening for extremely rare pathogenic variants of monogenic diabetes using targeted panel sequencing

Dokument / Faksimile

Alport, Leo 2

Hochschulschrift

Das Alport-Syndrom

Exome Sequencing in Monogenic Forms of Rickets

Pathogenic variants identified by whole-exome sequencing in 43 patients with epilepsy

Monogenic Causes in Familial Stroke Across Intracerebral Hemorrhage and Ischemic Stroke Subtypes Identified by Whole-Exome Sequencing

Exome QTL-seq maps monogenic locus and QTLs in barley

A Pathogenic Variant of PBX1 Identified by Whole Exome Sequencing in a Chinese CAKUTHED Case

TCOF1 pathogenic variants identified by Whole-exome sequencing in Chinese Treacher Collins syndrome families and hearing rehabilitation effect

Trigenic COL4A3/COL4A4/COL4A5 Pathogenic Variants in Alport Syndrome: A Case Report

The homozygous pathogenic variant of the POMGNT1 gene identified using whole-exome sequencing in Iranian family with congenital hydrocephalus

Hochschulschrift

Genotyp-Phänotyp-Korrelation bei Alport-Patientinnen und Alport-Patienten

Screening for extremely rare pathogenic variants of monogenic diabetes using targeted panel sequencing

Dokument / Faksimile

Alport, Leo 2

Hochschulschrift

Das Alport-Syndrom

Exome Sequencing in Monogenic Forms of Rickets

Pathogenic variants identified by whole-exome sequencing in 43 patients with epilepsy

Monogenic Causes in Familial Stroke Across Intracerebral Hemorrhage and Ischemic Stroke Subtypes Identified by Whole-Exome Sequencing

Exome QTL-seq maps monogenic locus and QTLs in barley

A Pathogenic Variant of PBX1 Identified by Whole Exome Sequencing in a Chinese CAKUTHED Case

TCOF1 pathogenic variants identified by Whole-exome sequencing in Chinese Treacher Collins syndrome families and hearing rehabilitation effect

Trigenic COL4A3/COL4A4/COL4A5 Pathogenic Variants in Alport Syndrome: A Case Report

The homozygous pathogenic variant of the POMGNT1 gene identified using whole-exome sequencing in Iranian family with congenital hydrocephalus

Hochschulschrift

Genotyp-Phänotyp-Korrelation bei Alport-Patientinnen und Alport-Patienten

Screening for extremely rare pathogenic variants of monogenic diabetes using targeted panel sequencing

Dokument / Faksimile

Alport, Leo 2

Hochschulschrift

Das Alport-Syndrom

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.

Pathogenic variants of Alport syndrome and monogenic diabetes identified by exome sequencing in a family

Object Details

References and Relationships

Contributors, Places and Time

Further information

Data provider

Associated

Other Objects (12)

Exome Sequencing in Monogenic Forms of Rickets

Pathogenic variants identified by whole-exome sequencing in 43 patients with epilepsy

Monogenic Causes in Familial Stroke Across Intracerebral Hemorrhage and Ischemic Stroke Subtypes Identified by Whole-Exome Sequencing

Exome QTL-seq maps monogenic locus and QTLs in barley

A Pathogenic Variant of PBX1 Identified by Whole Exome Sequencing in a Chinese CAKUTHED Case

TCOF1 pathogenic variants identified by Whole-exome sequencing in Chinese Treacher Collins syndrome families and hearing rehabilitation effect

Trigenic COL4A3/COL4A4/COL4A5 Pathogenic Variants in Alport Syndrome: A Case Report

The homozygous pathogenic variant of the POMGNT1 gene identified using whole-exome sequencing in Iranian family with congenital hydrocephalus

Genotyp-Phänotyp-Korrelation bei Alport-Patientinnen und Alport-Patienten

Screening for extremely rare pathogenic variants of monogenic diabetes using targeted panel sequencing

Alport, Leo 2

Das Alport-Syndrom

Exome Sequencing in Monogenic Forms of Rickets

Pathogenic variants identified by whole-exome sequencing in 43 patients with epilepsy

Monogenic Causes in Familial Stroke Across Intracerebral Hemorrhage and Ischemic Stroke Subtypes Identified by Whole-Exome Sequencing

Exome QTL-seq maps monogenic locus and QTLs in barley

A Pathogenic Variant of PBX1 Identified by Whole Exome Sequencing in a Chinese CAKUTHED Case

TCOF1 pathogenic variants identified by Whole-exome sequencing in Chinese Treacher Collins syndrome families and hearing rehabilitation effect

Trigenic COL4A3/COL4A4/COL4A5 Pathogenic Variants in Alport Syndrome: A Case Report

The homozygous pathogenic variant of the POMGNT1 gene identified using whole-exome sequencing in Iranian family with congenital hydrocephalus

Genotyp-Phänotyp-Korrelation bei Alport-Patientinnen und Alport-Patienten

Screening for extremely rare pathogenic variants of monogenic diabetes using targeted panel sequencing

Alport, Leo 2

Das Alport-Syndrom

Exome Sequencing in Monogenic Forms of Rickets

Pathogenic variants identified by whole-exome sequencing in 43 patients with epilepsy

Monogenic Causes in Familial Stroke Across Intracerebral Hemorrhage and Ischemic Stroke Subtypes Identified by Whole-Exome Sequencing

Exome QTL-seq maps monogenic locus and QTLs in barley

A Pathogenic Variant of PBX1 Identified by Whole Exome Sequencing in a Chinese CAKUTHED Case

TCOF1 pathogenic variants identified by Whole-exome sequencing in Chinese Treacher Collins syndrome families and hearing rehabilitation effect

Trigenic COL4A3/COL4A4/COL4A5 Pathogenic Variants in Alport Syndrome: A Case Report

The homozygous pathogenic variant of the POMGNT1 gene identified using whole-exome sequencing in Iranian family with congenital hydrocephalus

Genotyp-Phänotyp-Korrelation bei Alport-Patientinnen und Alport-Patienten

Screening for extremely rare pathogenic variants of monogenic diabetes using targeted panel sequencing

Alport, Leo 2

Das Alport-Syndrom

Related objects

Reset password