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Rolph Pfundt

Showing results (11-20 of 284) with videos related to

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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.
Atherosclerosis|September 20, 2006
Diet-induced hyperhomocysteinemia does not lead to large gene-expression differences in rat aortaSandra G Heil, Leo A Kluijtmans, An S De Vriese, et al.
Clinical Case Reports|August 8, 2017
A novel mutation in L1CAM causes a mild form of L1 syndrome: a case reportMaarten Otter, Marijke Wevers, Marline Pisters, 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.
Fertility and Sterility|October 3, 2013
Uniparental disomy in the human blastocyst is exceedingly rareNdeye-Aicha Gueye, Batsal Devkota, Deanne Taylor, et al.
Genome Research|August 9, 2008
Reduced purifying selection prevails over positive selection in human copy number variant evolutionDuc-Quang Nguyen, Caleb Webber, Jayne Hehir-Kwa, et al.
Molecular Syndromology|January 26, 2026
New Insights into the Relation between Cognition, Behavior, and the <i>CHD5</i> Gene: A Case-Report of an Adult Male with Parenti-Mignot Neurodevelopmental SyndromeCeline Melgers, Renée Roelofs, Bregje van Bon, et al.
Gut|September 28, 2014
Somatic loss of polycystic disease genes contributes to the formation of isolated and polycystic liver cystsManoe J Janssen, Jody Salomon, Wybrich R Cnossen, et al.
Haematologica|September 15, 2018
Somatic reversion events point towards Marjolijn C J Jongmans, Illja J Diets, Paola Quarello, et al.
International Medical Case Reports Journal|December 30, 2022
Myoclonic-Atonic Epilepsy Caused by a Novel de Novo Heterozygous Missense Variant in the <i>SLC6A1</i> Gene: Brief Discussion of the Literature and Detailed Case Description of a Severely Intellectually Disabled Adult Male PatientWillem Verhoeven, José Zuijdam, Anneke Scheick, et al.
Pageof 29

Showing results (11-20 of 284) with videos related to

Sort By:
Pageof 29
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.
Atherosclerosis|September 20, 2006
Diet-induced hyperhomocysteinemia does not lead to large gene-expression differences in rat aortaSandra G Heil, Leo A Kluijtmans, An S De Vriese, et al.
Clinical Case Reports|August 8, 2017
A novel mutation in L1CAM causes a mild form of L1 syndrome: a case reportMaarten Otter, Marijke Wevers, Marline Pisters, 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.
Fertility and Sterility|October 3, 2013
Uniparental disomy in the human blastocyst is exceedingly rareNdeye-Aicha Gueye, Batsal Devkota, Deanne Taylor, et al.
Genome Research|August 9, 2008
Reduced purifying selection prevails over positive selection in human copy number variant evolutionDuc-Quang Nguyen, Caleb Webber, Jayne Hehir-Kwa, et al.
Molecular Syndromology|January 26, 2026
New Insights into the Relation between Cognition, Behavior, and the <i>CHD5</i> Gene: A Case-Report of an Adult Male with Parenti-Mignot Neurodevelopmental SyndromeCeline Melgers, Renée Roelofs, Bregje van Bon, et al.
Gut|September 28, 2014
Somatic loss of polycystic disease genes contributes to the formation of isolated and polycystic liver cystsManoe J Janssen, Jody Salomon, Wybrich R Cnossen, et al.
Haematologica|September 15, 2018
Somatic reversion events point towards Marjolijn C J Jongmans, Illja J Diets, Paola Quarello, et al.
International Medical Case Reports Journal|December 30, 2022
Myoclonic-Atonic Epilepsy Caused by a Novel de Novo Heterozygous Missense Variant in the <i>SLC6A1</i> Gene: Brief Discussion of the Literature and Detailed Case Description of a Severely Intellectually Disabled Adult Male PatientWillem Verhoeven, José Zuijdam, Anneke Scheick, et al.
Pageof 29