Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies
- Standort
-
Deutsche Nationalbibliothek Frankfurt am Main
- Umfang
-
Online-Ressource
- Sprache
-
Englisch
- Erschienen in
-
In: 10.1093/brain/awad328
- Ereignis
-
Veröffentlichung
- (wo)
-
Aachen
- (wer)
-
Universitätsbibliothek der RWTH Aachen
- (wann)
-
2023
- Urheber
-
Lischka, Annette
Eggermann, Katja
Record, Christopher J.
Dohrn, Maike F.
Laššuthová, Petra
Kraft, Florian
Begemann, Matthias
Dey, Daniela
Eggermann, Thomas
Beijer, Danique
Šoukalová, Jana
Laura, Matilde
Rossor, Alexander M.
Mazanec, Radim
Van Lent, Jonas
Tomaselli, Pedro J.
Ungelenk, Martin
Debus, Karlien Y.
Feely, Shawna M. E.
Gläser, Dieter
Jagadeesh, Sujatha
Martin, Madelena
Govindaraj, Geeta M.
Singhi, Pratibha
Baineni, Revanth
Biswal, Niranjan
Ibarra-Ramírez, Marisol
Bonduelle, Maryse
Gess, Burkhard
Romero Sánchez, Juan
Suthar, Renu
Udani, Vrajesh
Nalini, Atchayaram
Unnikrishnan, Gopikrishnan
Marques, Wilson
Mercier, Sandra
Procaccio, Vincent
Bris, Céline
Suresh, Beena
Reddy, Vaishnavi
Skorupinska, Mariola
Bonello-Palot, Nathalie
Mochel, Fanny
Dahl, Georg
Sasidharan, Karthika
Devassikutty, Fiji M.
Nampoothiri, Sheela
Rodovalho Doriqui, Maria J.
Müller-Felber, Wolfgang
Vill, Katharina
Haack, Tobias
Dufke, Andreas
Abele, Michael
Stucka, Rolf
Siddiqi, Saima
Ullah, Noor
Spranger, Stephanie
Chiabrando, Deborah
Bolgül, Behiye S.
Parman, Yesim
Seeman, Pavel
Lampert, Angelika
Schulz, Jörg B.
Wood, John N.
Cox, James J.
Auer-Grumbach, Michaela
Timmerman, Vincent
de Winter, Jonathan
Themistocleous, Andreas C.
Shy, Michael
Bennett, David L.
Baets, Jonathan
Hübner, Christian A.
Leipold, Enrico
Züchner, Stephan
Elbracht, Miriam
Çakar, Arman
Senderek, Jan
Hornemann, Thorsten
Woods, C. Geoffrey
Reilly, Mary M.
Kurth, Ingo
- DOI
-
10.18154/RWTH-CONV-251946
- URN
-
urn:nbn:de:101:1-2406140213063.186231527241
- Rechteinformation
-
Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Letzte Aktualisierung
-
14.08.2025, 10:44 MESZ
Datenpartner
Dieses Objekt wird bereitgestellt von:
Deutsche Nationalbibliothek. Bei Fragen zum Objekt wenden Sie sich bitte an den Datenpartner.
Deutsche Nationalbibliothek. Bei Fragen zum Objekt wenden Sie sich bitte an den Datenpartner.
Beteiligte
- Lischka, Annette
- Eggermann, Katja
- Record, Christopher J.
- Dohrn, Maike F.
- Laššuthová, Petra
- Kraft, Florian
- Begemann, Matthias
- Dey, Daniela
- Eggermann, Thomas
- Beijer, Danique
- Šoukalová, Jana
- Laura, Matilde
- Rossor, Alexander M.
- Mazanec, Radim
- Van Lent, Jonas
- Tomaselli, Pedro J.
- Ungelenk, Martin
- Debus, Karlien Y.
- Feely, Shawna M. E.
- Gläser, Dieter
- Jagadeesh, Sujatha
- Martin, Madelena
- Govindaraj, Geeta M.
- Singhi, Pratibha
- Baineni, Revanth
- Biswal, Niranjan
- Ibarra-Ramírez, Marisol
- Bonduelle, Maryse
- Gess, Burkhard
- Romero Sánchez, Juan
- Suthar, Renu
- Udani, Vrajesh
- Nalini, Atchayaram
- Unnikrishnan, Gopikrishnan
- Marques, Wilson
- Mercier, Sandra
- Procaccio, Vincent
- Bris, Céline
- Suresh, Beena
- Reddy, Vaishnavi
- Skorupinska, Mariola
- Bonello-Palot, Nathalie
- Mochel, Fanny
- Dahl, Georg
- Sasidharan, Karthika
- Devassikutty, Fiji M.
- Nampoothiri, Sheela
- Rodovalho Doriqui, Maria J.
- Müller-Felber, Wolfgang
- Vill, Katharina
- Haack, Tobias
- Dufke, Andreas
- Abele, Michael
- Stucka, Rolf
- Siddiqi, Saima
- Ullah, Noor
- Spranger, Stephanie
- Chiabrando, Deborah
- Bolgül, Behiye S.
- Parman, Yesim
- Seeman, Pavel
- Lampert, Angelika
- Schulz, Jörg B.
- Wood, John N.
- Cox, James J.
- Auer-Grumbach, Michaela
- Timmerman, Vincent
- de Winter, Jonathan
- Themistocleous, Andreas C.
- Shy, Michael
- Bennett, David L.
- Baets, Jonathan
- Hübner, Christian A.
- Leipold, Enrico
- Züchner, Stephan
- Elbracht, Miriam
- Çakar, Arman
- Senderek, Jan
- Hornemann, Thorsten
- Woods, C. Geoffrey
- Reilly, Mary M.
- Kurth, Ingo
- Universitätsbibliothek der RWTH Aachen
Entstanden
- 2023
Ähnliche Objekte (12)
Maternal Effect Mutations: A Novel Cause for Human Reproductive Failure
Molecular mechanisms of human overgrowth and use of omics in its diagnostics : chances and challenges
Unusual deletion of the maternal 11p15 allele in Beckwith–Wiedemann syndrome with an impact on both imprinting domains
First-time application of droplet digital PCR for methylation testing of the 11p15.5 imprinting regions
Cystinuria: an inborn cause of urolithiasis
Cystinuria : an inborn cause of urolithiasis
11p13 microduplication: a differential diagnosis of Silver–Russell syndrome?
Molecular and Clinical Opposite Findings in 11p15.5 Associated Imprinting Disorders : Characterization of Basic Mechanisms to Improve Clinical Management
11p13 microduplication: a differential diagnosis of Silver–Russell syndrome?
Unusual deletion of the maternal 11p15 allele in Beckwith-Wiedemann syndrome with an impact on both imprinting domains
Nonregional small fibre neuropathy in cases of autoimmune autonomic neuropathy
Nonregional small fibre neuropathy in cases of autoimmune autonomic neuropathy
Maternal Effect Mutations: A Novel Cause for Human Reproductive Failure
Molecular mechanisms of human overgrowth and use of omics in its diagnostics : chances and challenges
Unusual deletion of the maternal 11p15 allele in Beckwith–Wiedemann syndrome with an impact on both imprinting domains
First-time application of droplet digital PCR for methylation testing of the 11p15.5 imprinting regions
Cystinuria: an inborn cause of urolithiasis
Cystinuria : an inborn cause of urolithiasis
11p13 microduplication: a differential diagnosis of Silver–Russell syndrome?
Molecular and Clinical Opposite Findings in 11p15.5 Associated Imprinting Disorders : Characterization of Basic Mechanisms to Improve Clinical Management
11p13 microduplication: a differential diagnosis of Silver–Russell syndrome?
Unusual deletion of the maternal 11p15 allele in Beckwith-Wiedemann syndrome with an impact on both imprinting domains
Nonregional small fibre neuropathy in cases of autoimmune autonomic neuropathy
Nonregional small fibre neuropathy in cases of autoimmune autonomic neuropathy
Maternal Effect Mutations: A Novel Cause for Human Reproductive Failure
Molecular mechanisms of human overgrowth and use of omics in its diagnostics : chances and challenges
Unusual deletion of the maternal 11p15 allele in Beckwith–Wiedemann syndrome with an impact on both imprinting domains
First-time application of droplet digital PCR for methylation testing of the 11p15.5 imprinting regions
Cystinuria: an inborn cause of urolithiasis
Cystinuria : an inborn cause of urolithiasis
11p13 microduplication: a differential diagnosis of Silver–Russell syndrome?
Molecular and Clinical Opposite Findings in 11p15.5 Associated Imprinting Disorders : Characterization of Basic Mechanisms to Improve Clinical Management
11p13 microduplication: a differential diagnosis of Silver–Russell syndrome?
Unusual deletion of the maternal 11p15 allele in Beckwith-Wiedemann syndrome with an impact on both imprinting domains
Nonregional small fibre neuropathy in cases of autoimmune autonomic neuropathy