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Hans Kristian Ploos van Amstel

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Nederlands Tijdschrift Voor Geneeskunde|October 27, 2011
[Stuttering: effects of genes and early treatment]Engelbert J E G Bast, Hans Kristian Ploos van Amstel, Marie-Christine Franken
European Journal of Medical Genetics|September 25, 2018
A survey of undetected, clinically relevant chromosome abnormalities when replacing postnatal karyotyping by Whole Genome SequencingRon Hochstenbach, Ellen van Binsbergen, Heleen Schuring-Blom, et al.
European Journal of Human Genetics : EJHG|July 23, 2009
Recurrent copy number changes in mentally retarded children harbour genes involved in cellular localization and the glutamate receptor complexMartin Poot, Marc J Eleveld, Ruben van 't Slot, et al.
Pediatric Blood & Cancer|August 21, 2018
Familial macrothrombocytopenia due to a double mutation in cis in the alpha-actinin 1 gene (ACTN1), previously considered to be chronic immune thrombocytopenic purpuraDanny Kanhai, René Mulder, Hans Kristian Ploos van Amstel, et al.
Nucleic Acids Research|October 14, 2005
Rapid detection of genomic imbalances using micro-arrays consisting of pooled BACs covering all human chromosome armsJeroen Knijnenburg, Marja van der Burg, Philomeen Nilsson, et al.
American Journal of Medical Genetics. Part A|June 25, 2016
Macrosomia, obesity, and macrocephaly as first clinical presentation of PHP1b caused by STX16 deletionIris M de Lange, Annemarie A Verrijn Stuart, Rob B van der Luijt, et al.
American Journal of Medical Genetics. Part A|October 3, 2008
Genotype-phenotype relationship for localization and age distribution of telangiectases in hereditary hemorrhagic telangiectasiaTom G W Letteboer, Hans-Jurgen Mager, Repke J Snijder, et al.
Journal of Medical Genetics|May 15, 2012
Mutations in WNT10A are present in more than half of isolated hypodontia casesMarie-José van den Boogaard, Marijn Créton, Yvon Bronkhorst, et al.
Molecular Genetics & Genomic Medicine|April 6, 2019
Concurrent manifestation of oligodontia and thrombocytopenia caused by a contiguous gene deletion in 12p13.2: A three-generation clinical reportJamila Ross, Willem Fennis, Nicole de Leeuw, et al.
European Journal of Human Genetics : EJHG|September 22, 2016
The association between WNT10A variants and dental development in patients with isolated oligodontiaBrunilda Dhamo, Willem Fennis, Marijn Créton, et al.
Pageof 3

Showing results (1-10 of 28) with videos related to

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Pageof 3
Nederlands Tijdschrift Voor Geneeskunde|October 27, 2011
[Stuttering: effects of genes and early treatment]Engelbert J E G Bast, Hans Kristian Ploos van Amstel, Marie-Christine Franken
European Journal of Medical Genetics|September 25, 2018
A survey of undetected, clinically relevant chromosome abnormalities when replacing postnatal karyotyping by Whole Genome SequencingRon Hochstenbach, Ellen van Binsbergen, Heleen Schuring-Blom, et al.
European Journal of Human Genetics : EJHG|July 23, 2009
Recurrent copy number changes in mentally retarded children harbour genes involved in cellular localization and the glutamate receptor complexMartin Poot, Marc J Eleveld, Ruben van 't Slot, et al.
Pediatric Blood & Cancer|August 21, 2018
Familial macrothrombocytopenia due to a double mutation in cis in the alpha-actinin 1 gene (ACTN1), previously considered to be chronic immune thrombocytopenic purpuraDanny Kanhai, René Mulder, Hans Kristian Ploos van Amstel, et al.
Nucleic Acids Research|October 14, 2005
Rapid detection of genomic imbalances using micro-arrays consisting of pooled BACs covering all human chromosome armsJeroen Knijnenburg, Marja van der Burg, Philomeen Nilsson, et al.
American Journal of Medical Genetics. Part A|June 25, 2016
Macrosomia, obesity, and macrocephaly as first clinical presentation of PHP1b caused by STX16 deletionIris M de Lange, Annemarie A Verrijn Stuart, Rob B van der Luijt, et al.
American Journal of Medical Genetics. Part A|October 3, 2008
Genotype-phenotype relationship for localization and age distribution of telangiectases in hereditary hemorrhagic telangiectasiaTom G W Letteboer, Hans-Jurgen Mager, Repke J Snijder, et al.
Journal of Medical Genetics|May 15, 2012
Mutations in WNT10A are present in more than half of isolated hypodontia casesMarie-José van den Boogaard, Marijn Créton, Yvon Bronkhorst, et al.
Molecular Genetics & Genomic Medicine|April 6, 2019
Concurrent manifestation of oligodontia and thrombocytopenia caused by a contiguous gene deletion in 12p13.2: A three-generation clinical reportJamila Ross, Willem Fennis, Nicole de Leeuw, et al.
European Journal of Human Genetics : EJHG|September 22, 2016
The association between WNT10A variants and dental development in patients with isolated oligodontiaBrunilda Dhamo, Willem Fennis, Marijn Créton, et al.
Pageof 3