Loss-of-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxia
Benita Menden, Rana D. Incebacak Eltemur, German Demidov, Marc Sturm et autres
1 citationNature Communications
Janine Magg
Informations fournies par OpenAlex. Research Africa ne déduit ni nationalité, ni poste, ni coordonnées personnelles.
23Publications signalées
319Citations signalées
1Affiliations récentes
Institutions déclarées
Domaines associés
Genetic Neurodegenerative DiseasesGenomics and Rare DiseasesGenetics and Neurodevelopmental DisordersNeurological disorders and treatmentsMetabolism and Genetic Disorders
Publications récentes
UBR5-Associated Neurodevelopmental Disorder with Global Developmental Delay and Multi-Organ Involvement: A Case Report
Janine Magg, Andrea Bevot, Martin Kehrer, Hendrik Rosewich
0 citationsNeuropediatrics
Author Correction: Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings
Axel Schmidt, Magdalena Danyel, Kathrin Grundmann, Theresa Brunet et autres
0 citationsNature Genetics
Neurodevelopmental retardation and neurological symptoms in homozygous variegate porphyria: two new cases and a literature review
Nadja Kaiser, Janine Magg, Thomas Nägele, Nicole I. Wolf et autres
1 citationOrphanet Journal of Rare Diseases
Author Correction: Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings
Axel Schmidt, Magdalena Danyel, Luisa Averdunk, Lilian Kaufmann et autres
0 citationsRWTH Publications (RWTH Aachen)
Brain malformations and seizures by impaired chaperonin function of TRiC
Florian Kraft, Piere Rodriguez-Aliaga, Weimin Yuan, Kamil K. Zajt et autres
28 citationsScience
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings
Axel Schmidt, Magdalena Danyel, Kathrin Grundmann, Theresa Brunet et autres
55 citationsNature Genetics
Next-generation phenotyping integrated in a national framework for patients with ultra-rare disorders improves genetic diagnostics and yields new molecular findings
Axel Schmidt, Magdalena Danyel, Kathrin Grundmann, Theresa Brunet et autres
15 citationsmedRxiv
Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome
Jet van der Spek, Joery den Hoed, Lot Snijders Blok, Alexander J.M. Dingemans et autres
34 citationsGenetics in Medicine
Inherited variants in CHD3 demonstrate variable expressivity in Snijders Blok-Campeau syndrome
Jet van der Spek, Joery den Hoed, Lot Snijders Blok, Alexander J.M. Dingemans et autres
0 citationsmedRxiv
Clinical and molecular description of 19 patients with GATAD2B-Associated Neurodevelopmental Disorder (GAND)
Gabriella Vera, Arthur Sorlin, Geoffroy Delplancq, François Lecoquierre et autres
13 citationsEuropean Journal of Medical Genetics
Unilateral Hearing Loss Due to Cochlear Nerve Involvement as Isolated Symptom of a Primary Medulloblastoma
Janine Magg, Thomas Nägele, Michael Alber, Annette Weichselbaum et autres
1 citationNeuropediatrics
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