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Peter Bauer

Showing results (441-450 of 585) with videos related to

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Acta Neuropathologica|February 2, 2020
Truncating mutations in YIF1B cause a progressive encephalopathy with various degrees of mixed movement disorder, microcephaly, and epilepsyMohammed AlMuhaizea, Rawan AlMass, Aljouhra AlHargan, et al.
Journal of Medical Genetics|November 30, 2018
MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive <i>c</i>erebellar, <i>o</i>cular, cranio<i>f</i>acial and <i>g</i>enital features (COFG syndrome)Abolfazl Rad, Umut Altunoglu, Rebecca Miller, et al.
Brain : a Journal of Neurology|February 21, 2013
Genotype-specific patterns of atrophy progression are more sensitive than clinical decline in SCA1, SCA3 and SCA6Kathrin Reetz, Ana S Costa, Shahram Mirzazade, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|September 2, 2008
Early symptoms in spinocerebellar ataxia type 1, 2, 3, and 6Christoph Globas, Sophie Tezenas du Montcel, Laslo Baliko, et al.
Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology|July 24, 2022
Der p 23-specific IgE response throughout childhood and its association with allergic disease: A birth cohort studyLeandra Forchert, Ekaterina Potapova, Valentina Panetta, et al.
European Journal of Human Genetics : EJHG|June 22, 2018
De novo ITPR1 variants are a recurrent cause of early-onset ataxia, acting via loss of channel functionMatthis Synofzik, Katherine L Helbig, Florian Harmuth, et al.
The Journal of Allergy and Clinical Immunology|October 28, 2011
Predictive value of food sensitization and filaggrin mutations in children with eczemaBirgit Filipiak-Pittroff, Christina Schnopp, Dietrich Berdel, et al.
Clinical Genetics|April 24, 2020
ADAMTS19-associated heart valve defects: Novel genetic variants consolidating a recognizable cardiac phenotypeSalam Massadeh, Amal Alhashem, Ingrid M B H van de Laar, et al.
Genetics in Medicine Open|December 13, 2024
Systematic gene-disease relationship (GDR) curation unveils 61 gene-disease associations and highlights the impact on genetic testingEmir Zonic, Mariana Ferreira, Luba M Pardo, et al.
European Journal of Medical Genetics|March 7, 2024
Penetrance, variable expressivity and monogenic neurodevelopmental disordersServane de Masfrand, Benjamin Cogné, Mathilde Nizon, et al.
Pageof 59

Showing results (441-450 of 585) with videos related to

Sort By:
Pageof 59
Acta Neuropathologica|February 2, 2020
Truncating mutations in YIF1B cause a progressive encephalopathy with various degrees of mixed movement disorder, microcephaly, and epilepsyMohammed AlMuhaizea, Rawan AlMass, Aljouhra AlHargan, et al.
Journal of Medical Genetics|November 30, 2018
MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive <i>c</i>erebellar, <i>o</i>cular, cranio<i>f</i>acial and <i>g</i>enital features (COFG syndrome)Abolfazl Rad, Umut Altunoglu, Rebecca Miller, et al.
Brain : a Journal of Neurology|February 21, 2013
Genotype-specific patterns of atrophy progression are more sensitive than clinical decline in SCA1, SCA3 and SCA6Kathrin Reetz, Ana S Costa, Shahram Mirzazade, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|September 2, 2008
Early symptoms in spinocerebellar ataxia type 1, 2, 3, and 6Christoph Globas, Sophie Tezenas du Montcel, Laslo Baliko, et al.
Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology|July 24, 2022
Der p 23-specific IgE response throughout childhood and its association with allergic disease: A birth cohort studyLeandra Forchert, Ekaterina Potapova, Valentina Panetta, et al.
European Journal of Human Genetics : EJHG|June 22, 2018
De novo ITPR1 variants are a recurrent cause of early-onset ataxia, acting via loss of channel functionMatthis Synofzik, Katherine L Helbig, Florian Harmuth, et al.
The Journal of Allergy and Clinical Immunology|October 28, 2011
Predictive value of food sensitization and filaggrin mutations in children with eczemaBirgit Filipiak-Pittroff, Christina Schnopp, Dietrich Berdel, et al.
Clinical Genetics|April 24, 2020
ADAMTS19-associated heart valve defects: Novel genetic variants consolidating a recognizable cardiac phenotypeSalam Massadeh, Amal Alhashem, Ingrid M B H van de Laar, et al.
Genetics in Medicine Open|December 13, 2024
Systematic gene-disease relationship (GDR) curation unveils 61 gene-disease associations and highlights the impact on genetic testingEmir Zonic, Mariana Ferreira, Luba M Pardo, et al.
European Journal of Medical Genetics|March 7, 2024
Penetrance, variable expressivity and monogenic neurodevelopmental disordersServane de Masfrand, Benjamin Cogné, Mathilde Nizon, et al.
Pageof 59