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Marjolein H Willemsen

Showing results (1-10 of 62) with videos related to

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Nederlands Tijdschrift Voor Geneeskunde|November 20, 2014
[Genetic diagnostics in intellectual disability: what is the benefit?]Marjolein H Willemsen, Tjitske Kleefstra
Neuropsychiatric Disease and Treatment|April 10, 2018
Phenotypic characterization of an older adult male with late-onset epilepsy and a novel mutation in <i>ASXL3</i> shows overlap with the associated Bainbridge-Ropers syndromeWillem Verhoeven, Jos Egger, Emmy Räkers, et al.
European Journal of Medical Genetics|March 24, 2009
Clinical and molecular characterization of two patients with a 6.75 Mb overlapping deletion in 8p12p21 with two candidate loci for congenital heart defectsMarjolein H Willemsen, Nicole de Leeuw, Rolph Pfundt, et al.
Neuropsychiatric Disease and Treatment|May 10, 2012
Phelan-McDermid syndrome in two adult brothers: atypical bipolar disorder as its psychopathological phenotype?Willem Ma Verhoeven, Jos Im Egger, Marjolein H Willemsen, et al.
Genetics Research|October 7, 2015
A de novo microdeletion in NRXN1 in a Dutch patient with mild intellectual disability, microcephaly and gonadal dysgenesisZehra Agha, Zafar Iqbal, Tjitske Kleefstra, et al.
Epilepsia Open|March 29, 2018
Phenytoin as a last-resort treatment in <i>SCN8A</i> encephalopathyHilde M Braakman, Judith S Verhoeven, Corrie E Erasmus, et al.
International Journal of General Medicine|March 18, 2022
A Patient with Moderate Intellectual Disability and 49, XXXYY KaryotypeWillem M A Verhoeven, Jos I M Egger, Sandra Mergler, et al.
Epilepsia Open|June 12, 2020
Epilepsy phenotype in individuals with chromosomal duplication encompassing <i>FGF12</i>Marjolein H Willemsen, Himanshu Goel, Judith S Verhoeven, et al.
Molecular Syndromology|November 17, 2025
Personalized Treatment in Rare Genetic Syndromes: A Case-Report in Witteveen-Kolk Syndrome (SIN3A)Vincent Janssen, Linde C M van Dongen, Maud C C Custers, et al.
Gene|January 21, 2014
A complex microcephaly syndrome in a Pakistani family associated with a novel missense mutation in RBBP8 and a heterozygous deletion in NRXN1Zehra Agha, Zafar Iqbal, Maleeha Azam, et al.
Pageof 7

Showing results (1-10 of 62) with videos related to

Sort By:
Pageof 7
Nederlands Tijdschrift Voor Geneeskunde|November 20, 2014
[Genetic diagnostics in intellectual disability: what is the benefit?]Marjolein H Willemsen, Tjitske Kleefstra
Neuropsychiatric Disease and Treatment|April 10, 2018
Phenotypic characterization of an older adult male with late-onset epilepsy and a novel mutation in <i>ASXL3</i> shows overlap with the associated Bainbridge-Ropers syndromeWillem Verhoeven, Jos Egger, Emmy Räkers, et al.
European Journal of Medical Genetics|March 24, 2009
Clinical and molecular characterization of two patients with a 6.75 Mb overlapping deletion in 8p12p21 with two candidate loci for congenital heart defectsMarjolein H Willemsen, Nicole de Leeuw, Rolph Pfundt, et al.
Neuropsychiatric Disease and Treatment|May 10, 2012
Phelan-McDermid syndrome in two adult brothers: atypical bipolar disorder as its psychopathological phenotype?Willem Ma Verhoeven, Jos Im Egger, Marjolein H Willemsen, et al.
Genetics Research|October 7, 2015
A de novo microdeletion in NRXN1 in a Dutch patient with mild intellectual disability, microcephaly and gonadal dysgenesisZehra Agha, Zafar Iqbal, Tjitske Kleefstra, et al.
Epilepsia Open|March 29, 2018
Phenytoin as a last-resort treatment in <i>SCN8A</i> encephalopathyHilde M Braakman, Judith S Verhoeven, Corrie E Erasmus, et al.
International Journal of General Medicine|March 18, 2022
A Patient with Moderate Intellectual Disability and 49, XXXYY KaryotypeWillem M A Verhoeven, Jos I M Egger, Sandra Mergler, et al.
Epilepsia Open|June 12, 2020
Epilepsy phenotype in individuals with chromosomal duplication encompassing <i>FGF12</i>Marjolein H Willemsen, Himanshu Goel, Judith S Verhoeven, et al.
Molecular Syndromology|November 17, 2025
Personalized Treatment in Rare Genetic Syndromes: A Case-Report in Witteveen-Kolk Syndrome (SIN3A)Vincent Janssen, Linde C M van Dongen, Maud C C Custers, et al.
Gene|January 21, 2014
A complex microcephaly syndrome in a Pakistani family associated with a novel missense mutation in RBBP8 and a heterozygous deletion in NRXN1Zehra Agha, Zafar Iqbal, Maleeha Azam, et al.
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