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J.h.l.m van Bokhoven

Professor

Radboud University Medical Center

Netherlands

Research Interests

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Professors in Netherlands Professors in Cell Biology Cell Biology professors in Netherlands

Articles (12)

Year:

2025

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2024

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2024

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2024

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2024

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2024

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2024

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2023

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2023

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2023

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2023

Year:

2023

Collaborators (17)

Derick Wansink

Associate Professor

Radboud University Medical Center

NETHERLANDS

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Nuno Maia

Invited associated professor

Instituto Politécnico de Leiria

PORTUGAL

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Meena Balasubramanian

University of Sheffield

UNITED KINGDOM

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Kornelia Neveling

Radboud University Medical Center

NETHERLANDS

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David Mackey AO

University of Western Australia

AUSTRALIA

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Tjitske Kleefstra

Professor

Radboud University Medical Center

NETHERLANDS

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Dirk Schubert

Associate Professor Translational Neuroscience

Radboud Universiteit Donders Institute for Brain Cognition and Behaviour

NETHERLANDS

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Paula Jorge

Auxiliary Professor

University of Porto

PORTUGAL

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Tuomo Mantere

Scientific researcher

University of Oulu

FINLAND

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Bekim Sadikovic

Western University

CANADA

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Arjan P. M. de Brouwer

NETHERLANDS

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Diana Baralle

University of Southampton

UNITED KINGDOM

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Mari Mori

Associate Professor

Emory University

UNITED STATES

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Elza Rachid

Assistant Professor

University of Chicago

UNITED STATES

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Caroline Robson

Division Chief, Neuroradiology

Boston Children's Hospital

UNITED STATES

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Amalia Dolga

Scientific Staff, Professor, Hoogleraar

University of Groningen

NETHERLANDS

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Nael Nadif Kasri

Full professor

Radboudumc

NETHERLANDS

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J.h.l.m van Bokhoven

Research Interests

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Articles (12)

CACNA1A haploinsufficiency leads to reduced synaptic function and increased intrinsic excitability

Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome

Navigating Human Astrocyte Differentiation: Direct and Rapid one-step Differentiation of Induced Pluripotent Stem Cells to Functional Astrocytes Supporting Neuronal Network development

<italic>CACNA1A</italic> haploinsufficiency leads to reduced synaptic function and increased intrinsic excitability

Ameliorated cellular hallmarks of myotonic dystrophy in hybrid myotubes from patient and unaffected donor cells

Generation of induced pluripotent stem cell line (UCSFi001-A-77) carrying a biallelic frameshift variant in exon 4 of SGIP1 through CRISPR/Cas9

Generation of induced pluripotent stem cell lines from two unrelated patients affected by intellectual disability carrying homozygous variants in SGIP1

Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes

Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis

A complex structural variant near SOX3 causes X-linked split-hand/foot malformation

SCN1A-deficient excitatory neuronal networks display mutation-specific phenotypes.

Genetic diagnostic approach to intellectual disability and multiple congenital anomalies in Indonesia

Collaborators (17)

Derick Wansink

Nuno Maia

Meena Balasubramanian

Kornelia Neveling

David Mackey AO

Tjitske Kleefstra

Dirk Schubert

Paula Jorge

Tuomo Mantere

Bekim Sadikovic

Arjan P. M. de Brouwer

Diana Baralle

Mari Mori

Elza Rachid

Caroline Robson

Amalia Dolga

Nael Nadif Kasri

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