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Rebecca Buchert

Showing results (21-30 of 50) with videos related to

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European Journal of Human Genetics : EJHG|September 8, 2023
Variants in EFCAB7 underlie nonsyndromic postaxial polydactylyMuhammad Bilal, Hammal Khan, Muhammad Javed Khan, et al.
American Journal of Human Genetics|April 9, 2013
Hypomorphic mutations in PGAP2, encoding a GPI-anchor-remodeling protein, cause autosomal-recessive intellectual disabilityLars Hansen, Hasan Tawamie, Yoshiko Murakami, et al.
American Journal of Human Genetics|November 22, 2016
Epileptic Encephalopathy Caused by Mutations in the Guanine Nucleotide Exchange Factor DENND5AChanshuai Han, Reem Alkhater, Tawfiq Froukh, et al.
Nature Communications|July 5, 2017
AMPA-receptor specific biogenesis complexes control synaptic transmission and intellectual abilityAline Brechet, Rebecca Buchert, Jochen Schwenk, et al.
Human Molecular Genetics|February 22, 2015
Mutations in DCPS and EDC3 in autosomal recessive intellectual disability indicate a crucial role for mRNA decapping in neurodevelopmentIltaf Ahmed, Rebecca Buchert, Mi Zhou, et al.
Clinical Genetics|February 15, 2020
Genetic basis of neurodevelopmental disorders in 103 Jordanian familiesTawfiq Froukh, Omar Nafie, Sana' A S Al Hait, et al.
Pediatric Neurology|October 11, 2023
A PAK1 Mutational Hotspot Within the Regulatory CRIPaK Domain is Associated With Severe Neurodevelopmental Disorders in ChildrenGiovanna Scorrano, Gianluca D'Onofrio, Andrea Accogli, et al.
European Journal of Human Genetics : EJHG|July 28, 2023
Clinical trio genome sequencing facilitates the interpretation of variants in cancer predisposition genes in paediatric tumour patientsChristopher Schroeder, Ulrike Faust, Luisa Krauße, et al.
Prenatal Diagnosis|May 16, 2022
A single center experience of prenatal parent-fetus trio exome sequencing for pregnancies with congenital anomaliesAndreas Dufke, Markus Hoopmann, Stephan Waldmüller, et al.
JAMA Psychiatry|January 19, 2017
Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental DisordersMiriam S Reuter, Hasan Tawamie, Rebecca Buchert, et al.
Pageof 5

Showing results (21-30 of 50) with videos related to

Sort By:
Pageof 5
European Journal of Human Genetics : EJHG|September 8, 2023
Variants in EFCAB7 underlie nonsyndromic postaxial polydactylyMuhammad Bilal, Hammal Khan, Muhammad Javed Khan, et al.
American Journal of Human Genetics|April 9, 2013
Hypomorphic mutations in PGAP2, encoding a GPI-anchor-remodeling protein, cause autosomal-recessive intellectual disabilityLars Hansen, Hasan Tawamie, Yoshiko Murakami, et al.
American Journal of Human Genetics|November 22, 2016
Epileptic Encephalopathy Caused by Mutations in the Guanine Nucleotide Exchange Factor DENND5AChanshuai Han, Reem Alkhater, Tawfiq Froukh, et al.
Nature Communications|July 5, 2017
AMPA-receptor specific biogenesis complexes control synaptic transmission and intellectual abilityAline Brechet, Rebecca Buchert, Jochen Schwenk, et al.
Human Molecular Genetics|February 22, 2015
Mutations in DCPS and EDC3 in autosomal recessive intellectual disability indicate a crucial role for mRNA decapping in neurodevelopmentIltaf Ahmed, Rebecca Buchert, Mi Zhou, et al.
Clinical Genetics|February 15, 2020
Genetic basis of neurodevelopmental disorders in 103 Jordanian familiesTawfiq Froukh, Omar Nafie, Sana' A S Al Hait, et al.
Pediatric Neurology|October 11, 2023
A PAK1 Mutational Hotspot Within the Regulatory CRIPaK Domain is Associated With Severe Neurodevelopmental Disorders in ChildrenGiovanna Scorrano, Gianluca D'Onofrio, Andrea Accogli, et al.
European Journal of Human Genetics : EJHG|July 28, 2023
Clinical trio genome sequencing facilitates the interpretation of variants in cancer predisposition genes in paediatric tumour patientsChristopher Schroeder, Ulrike Faust, Luisa Krauße, et al.
Prenatal Diagnosis|May 16, 2022
A single center experience of prenatal parent-fetus trio exome sequencing for pregnancies with congenital anomaliesAndreas Dufke, Markus Hoopmann, Stephan Waldmüller, et al.
JAMA Psychiatry|January 19, 2017
Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental DisordersMiriam S Reuter, Hasan Tawamie, Rebecca Buchert, et al.
Pageof 5