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Publications by Bernhard Schick

Loss-Of-Function Mutations in Sodium Channel Nav1.7 Cause Anosmia

Nature
Multidisciplinary
2011English

Fully Automatic Segmentation of Glottis and Vocal Folds in Endoscopic Laryngeal High-Speed Videos Using a Deep Convolutional LSTM Network

PLoS ONE
Multidisciplinary
2020English

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Homozygous Loss-Of-Function Mutations in SLC26A7 Cause Goitrous Congenital Hypothyroidism

Yearbook of Paediatric Endocrinology
2019English

Loss-Of-Function Mutations in HPSE2 Cause the Autosomal Recessive Urofacial Syndrome

American Journal of Human Genetics
Genetics
2010English

Sodium Channel, Voltage-Gated, Type IX, Α Subunit (SCN9A; NaV1.7)

Science-Business eXchange
2008English

De Novo Mutations in the Sodium-Channel Gene SCN1A Cause Severe Myoclonic Epilepsy of Infancy

American Journal of Human Genetics
Genetics
2001English

Loss-Of-Function Mutations in UDP-Glucose 6-Dehydrogenase Cause Recessive Developmental Epileptic Encephalopathy

Nature Communications
AstronomyGeneticsMolecular BiologyBiochemistryChemistryPhysics
2020English

Computational Study of the Loss-Of-Function Mutations in the Kv1.5 Channel Associated With Atrial Fibrillation

ACS Omega
ChemistryChemical Engineering
2018English

Loss-Of-Function Mutations in QRICH2 Cause Male Infertility With Multiple Morphological Abnormalities of the Sperm Flagella

Nature Communications
AstronomyGeneticsMolecular BiologyBiochemistryChemistryPhysics
2019English

Mutations in NaV1.5 Reveal Calcium-Calmodulin Regulation of Sodium Channel

Frontiers in Physiology
Physiology
2019English

Maturation of EEG Oscillations in Children With Sodium Channel Mutations

Brain and Development
Child HealthDevelopmental NeurosciencePerinatologyNeurologyMedicinePediatrics
2012English

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