Expanding the genotype–phenotype correlations in Alport syndrome: novel mutations, digenic inheritance, and genetic modifiers
- Location
-
Deutsche Nationalbibliothek Frankfurt am Main
- Extent
-
1 Online-Ressource.
- Language
-
Englisch
- Bibliographic citation
-
Expanding the genotype–phenotype correlations in Alport syndrome: novel mutations, digenic inheritance, and genetic modifiers ; volume:24 ; number:1 ; day:13 ; month:10 ; year:2023 ; pages:1-7 ; date:12.2023
The Egyptian journal of medical human genetics ; 24, Heft 1 (13.10.2023), 1-7, 12.2023
- Creator
-
Sahin, Ibrahim
Kandemir, Nefise
Saat, Hanife
- Contributor
-
SpringerLink (Online service)
- DOI
-
10.1186/s43042-023-00441-x
- URN
-
urn:nbn:de:101:1-2024020515380231597959
- Rights
-
Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Last update
-
15.08.2025, 7:26 AM CEST
Data provider
This object is provided by:
Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.
Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.
Associated
- Sahin, Ibrahim
- Kandemir, Nefise
- Saat, Hanife
- SpringerLink (Online service)
Other Objects (12)
Expanding the genotype-phenotype spectrum in SCN8A-related disorders
X-linked Alport syndrome: pathogenic variant features and further auditory genotype-phenotype correlations in males
Genotype–phenotype correlations and nephroprotective effects of RAAS inhibition in patients with autosomal recessive Alport syndrome
Expanding genotype–phenotype correlations in FOXG1 syndrome: results from a patient registry
Precise variant interpretation, phenotype ascertainment, and genotype–phenotype correlation of children in the EARLY PRO‐TECT Alport trial
Precise variant interpretation, phenotype ascertainment, and genotype-phenotype correlation of children in the EARLY PRO‐TECT Alport trial
Genotyp-Phänotyp-Korrelation bei Alport-Patientinnen und Alport-Patienten
Expanding the genotype–phenotype spectrum in hereditary colorectal cancer by gene panel testing
Alport, Leo 2
Das Alport-Syndrom
Alport, Leo 3
Alport, Leo 1
Expanding the genotype-phenotype spectrum in SCN8A-related disorders
X-linked Alport syndrome: pathogenic variant features and further auditory genotype-phenotype correlations in males
Genotype–phenotype correlations and nephroprotective effects of RAAS inhibition in patients with autosomal recessive Alport syndrome
Expanding genotype–phenotype correlations in FOXG1 syndrome: results from a patient registry
Precise variant interpretation, phenotype ascertainment, and genotype–phenotype correlation of children in the EARLY PRO‐TECT Alport trial
Precise variant interpretation, phenotype ascertainment, and genotype-phenotype correlation of children in the EARLY PRO‐TECT Alport trial
Genotyp-Phänotyp-Korrelation bei Alport-Patientinnen und Alport-Patienten
Expanding the genotype–phenotype spectrum in hereditary colorectal cancer by gene panel testing
Alport, Leo 2
Das Alport-Syndrom
Alport, Leo 3
Alport, Leo 1
Expanding the genotype-phenotype spectrum in SCN8A-related disorders
X-linked Alport syndrome: pathogenic variant features and further auditory genotype-phenotype correlations in males
Genotype–phenotype correlations and nephroprotective effects of RAAS inhibition in patients with autosomal recessive Alport syndrome
Expanding genotype–phenotype correlations in FOXG1 syndrome: results from a patient registry
Precise variant interpretation, phenotype ascertainment, and genotype–phenotype correlation of children in the EARLY PRO‐TECT Alport trial
Precise variant interpretation, phenotype ascertainment, and genotype-phenotype correlation of children in the EARLY PRO‐TECT Alport trial
Genotyp-Phänotyp-Korrelation bei Alport-Patientinnen und Alport-Patienten
Expanding the genotype–phenotype spectrum in hereditary colorectal cancer by gene panel testing
Alport, Leo 2
Das Alport-Syndrom
Alport, Leo 3