Further characterization of the BRSK2-associated neurodevelopmental disorder
Palak Singhal, Tzung‐Chien Hsieh, Nadja Ehmke, Elena Bacchelli et autres
0 citationsEuropean Journal of Human Genetics
André Reis
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1022Publications signalées
37802Citations signalées
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Domaines associés
Genetics and Neurodevelopmental DisordersGenomics and Rare DiseasesGenomic variations and chromosomal abnormalitiesPsoriasis: Treatment and PathogenesisSkin and Cellular Biology Research
Publications récentes
Further characterization of the BRSK2-associated neurodevelopmental disorder
Palak Singhal, Tzung‐Chien Hsieh, Nadja Ehmke, Elena Bacchelli et autres
0 citationsZurich Open Repository and Archive (University of Zurich)
Further characterization of the BRSK2-associated neurodevelopmental disorder.
Palak Singhal, Tzung‐Chien Hsieh, Nadja Ehmke, Elena Bacchelli et autres
0 citationsOpen Access CRIS of the University of Bern
Diagnosing Mendelian Kidney Disease: Hidden Niches in the (Kidney) Genome
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0 citationsAmerican Journal of Kidney Diseases
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Genetic liability to psoriasis predicts severe disease outcomes
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0 citationsGenome Medicine
A homozygous TRIP13 pathogenic variant associated with familiar oocyte arrest and prematurely condensed sperm chromosomes
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Awarding of the GfH Medal of Honor 2025 to Prof. Dr. med. Stefan Mundlos
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Junge Frau mit multiplen Raumforderungen beider Ovarien
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0 citationsDie Gynäkologie
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Mahmoud R. Fassad, Sebastian Valenzuela, Monika Oláhová, Jack J. Collier et autres
3 citationsClinical Genetics
Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization
Camille Engel, Michaela Rendek, Jessica Assoumani, Emanuela Argilli et autres
4 citationsEuropean Journal of Human Genetics
De novo variants of NALCN differentially impact both the phenotypic spectrum of patients and the biophysical properties of the NALCN current
Nawale Hadouiri, Romain Baudat, Paloma Parra‐Díaz, Isabel del Pino et autres
1 citationmedRxiv
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