- Location
-
Deutsche Nationalbibliothek Frankfurt am Main
- Extent
-
Online-Ressource
- Language
-
Englisch
- Bibliographic citation
-
CDKL5 deficiency disorder: case report of a possible new pathogenic variant ; volume:81 ; number:S 01 ; year:2023 ; 01
Konferenz: SBN Conference 2022; 2022-11-09; Expo United Curitiba
Arquivos de neuro-psiquiatria ; 81, Heft S 01 (2023), 01
- Contributor
-
Goncalves, Alicia Carolina Coraspe
Paiva, Amanda Povoa
Fernandes, Regina Maria Franca
Hamad, Ana Paula Andrade
Caldas, Carla Andrea Cardoso Tanuri
Rosa, Matheus de Souza
Arruda, Rodrigo Santana
Minami, Maria Avanise Yumi
Costa, Ursula Thome
- DOI
-
10.1055/s-0043-1774528
- URN
-
urn:nbn:de:101:1-2023110211191852211367
- Rights
-
Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Last update
-
14.08.2025, 11:00 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
- Goncalves, Alicia Carolina Coraspe
- Paiva, Amanda Povoa
- Fernandes, Regina Maria Franca
- Hamad, Ana Paula Andrade
- Caldas, Carla Andrea Cardoso Tanuri
- Rosa, Matheus de Souza
- Arruda, Rodrigo Santana
- Minami, Maria Avanise Yumi
- Costa, Ursula Thome
Other Objects (12)
Targeted long-read sequencing identifies missing pathogenic variant in unsolved 11β-hydroxylase deficiency
Neurofibromatosis-Noonan syndrome and growth deficiency in an Iranian girl due to a pathogenic variant in NF1 gene
Novel pathogenic variant in a mild case of type B molybdenum cofactor deficiency: case report and literature review
A novel stop-gain pathogenic variant in FLT4 and a nonsynonymous pathogenic variant in PTPN11 associated with congenital heart defects
A novel pathogenic variant in the carnitine transporter gene, SLC22A5, in association with metabolic carnitine deficiency and cardiomyopathy features
Severe protein C deficiency in a newborn caused by a homozygous pathogenic variant in the PROC gene: a case report
Fibrilo-Tactoid Glomerulonephritis: A Possible Novel Morphological Variant
Novel pathogenic variant in MED12 causing non-syndromic dilated cardiomyopathy
Possible pathogenic mechanism of gluteal pain in lumbar disc hernia
An unstable variant of GAP43 leads to neurodevelopmental deficiency
De novo pathogenic variant in SETX causes a rapidly progressive neurodegenerative disorder of early childhood-onset with severe axonal polyneuropathy
Constitutional mismatch repair deficiency is the diagnosis in 0.41% of pathogenic NF1/SPRED1 variant negative children suspected of sporadic neurofibromatosis type 1
Targeted long-read sequencing identifies missing pathogenic variant in unsolved 11β-hydroxylase deficiency
Neurofibromatosis-Noonan syndrome and growth deficiency in an Iranian girl due to a pathogenic variant in NF1 gene
Novel pathogenic variant in a mild case of type B molybdenum cofactor deficiency: case report and literature review
A novel stop-gain pathogenic variant in FLT4 and a nonsynonymous pathogenic variant in PTPN11 associated with congenital heart defects
A novel pathogenic variant in the carnitine transporter gene, SLC22A5, in association with metabolic carnitine deficiency and cardiomyopathy features
Severe protein C deficiency in a newborn caused by a homozygous pathogenic variant in the PROC gene: a case report
Fibrilo-Tactoid Glomerulonephritis: A Possible Novel Morphological Variant
Novel pathogenic variant in MED12 causing non-syndromic dilated cardiomyopathy
Possible pathogenic mechanism of gluteal pain in lumbar disc hernia
An unstable variant of GAP43 leads to neurodevelopmental deficiency
De novo pathogenic variant in SETX causes a rapidly progressive neurodegenerative disorder of early childhood-onset with severe axonal polyneuropathy
Constitutional mismatch repair deficiency is the diagnosis in 0.41% of pathogenic NF1/SPRED1 variant negative children suspected of sporadic neurofibromatosis type 1
Targeted long-read sequencing identifies missing pathogenic variant in unsolved 11β-hydroxylase deficiency
Neurofibromatosis-Noonan syndrome and growth deficiency in an Iranian girl due to a pathogenic variant in NF1 gene
Novel pathogenic variant in a mild case of type B molybdenum cofactor deficiency: case report and literature review
A novel stop-gain pathogenic variant in FLT4 and a nonsynonymous pathogenic variant in PTPN11 associated with congenital heart defects
A novel pathogenic variant in the carnitine transporter gene, SLC22A5, in association with metabolic carnitine deficiency and cardiomyopathy features
Severe protein C deficiency in a newborn caused by a homozygous pathogenic variant in the PROC gene: a case report
Fibrilo-Tactoid Glomerulonephritis: A Possible Novel Morphological Variant
Novel pathogenic variant in MED12 causing non-syndromic dilated cardiomyopathy
Possible pathogenic mechanism of gluteal pain in lumbar disc hernia
An unstable variant of GAP43 leads to neurodevelopmental deficiency
De novo pathogenic variant in SETX causes a rapidly progressive neurodegenerative disorder of early childhood-onset with severe axonal polyneuropathy