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  • 1-8 of  8 نتائج ل ""Asadollahi, Reza""

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Content Provider : BASE Language : english Format : Academic Journals Format : Dissertations Subject : institute of psychology Subject : medical clinic Subject : neuropsychology and physiological psychology Subject : zurich center for linguistics فلترة بواسطة : مؤلف
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Academic Journal

Pathogenic SCN2A variants cause early-stage dysfunction in patient-derived neurons

Subjects: Medical Clinic; Institute of Medical Genetics; Neuroscience Center Zurich

  • Source: Asadollahi, Reza; Delvendahl, Igor; Muff, Rebecca; Tan, Ge; Rodríguez, Daymé González; Turan, Soeren; Russo, Martina; Oneda, Beatrice;

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Academic Journal

Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly

Subjects: Medical Clinic; Institute of Medical Genetics; Institute of Molecular Life Sciences

  • Source: Boonsawat, Paranchai; Joset, Pascal; Steindl, Katharina; Oneda, Beatrice; Gogoll, Laura; Azzarello-Burri, Silvia; Sheth, Frenny; Datar, Chaitanya; Verma, Ishwar C; Puri, Ratna Dua; Zollino, Marcella;

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Academic Journal

Further corroboration of distinct functional features in SCN2A variants causing intellectual disability or epileptic phenotypes

Subjects: Medical Clinic; Institute of Medical Genetics; Institute of Pharmacology and Toxicology

  • Source: Begemann, Anaïs; Acuña, Mario A; Zweier, Markus; Vincent, Marie; Steindl, Katharina; Bachmann-Gagescu, Ruxandra; Hackenberg, Annette; Abela, Lucia; Plecko, Barbara; Kroell-Seger, Judith; Baumer,

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Academic Journal

The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study

Subjects: Medical Clinic; Institute of Medical Genetics; 610 Medicine & health

  • Source: Papuc, Sorina M; Abela, Lucia; Steindl, Katharina; Begemann, Anaïs; Simmons, Thomas L; Schmitt, Bernhard; Zweier, Markus; Oneda, Beatrice; Socher, Eileen; Crowther, Lisa M; Wohlrab, Gabriele; Gogoll,

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Academic Journal

Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling

Subjects: Medical Clinic; Institute of Medical Genetics; Neuroscience Center Zurich

  • Source: Asadollahi, Reza; Strauss, Justin E; Zenker, Martin; Beuing, Oliver; Edvardson, Simon; Elpeleg, Orly; Strom, Tim M; Joset, Pascal;

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Academic Journal

Low-Level Chromosomal Mosaicism in Neurodevelopmental Disorders

Subjects: Medical Clinic; Institute of Medical Genetics; 570 Life sciences

  • Source: Oneda, Beatrice; Asadollahi, Reza; Azzarello-Burri, Silvia; Niedrist, Dunja; Baldinger, Rosa; Masood, Rahim; Schinzel, Albert; Latal, Bea;

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Academic Journal

The clinical significance of small copy number variants in neurodevelopmental disorders

Subjects: Medical Clinic; Institute of Medical Genetics; 570 Life sciences

  • Source: Asadollahi, Reza; Oneda, Beatrice; Joset, Pascal; Azzarello-Burri, Silvia; Bartholdi, Deborah; Steindl, Katharina; Vincent, Marie;

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Academic Journal

Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability

Subjects: Medical Clinic; Institute of Medical Genetics; 570 Life sciences

  • Source: Asadollahi, Reza; Oneda, Beatrice; Sheth, Frenny; Azzarello-Burri, Silvia; Baldinger, Rosa; Joset, Pascal; Latal, Beatrice; Knirsch,

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  • 1-8 of  8 نتائج ل ""Asadollahi, Reza""