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Rolph Pfundt

Showing results (1-10 of 284) with videos related to

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Methods in Molecular Biology (Clifton, N.J.)|January 10, 2012
Structural genomic variation in intellectual disabilityRolph Pfundt, Joris A Veltman
Expert Review of Molecular Diagnostics|June 20, 2015
Exome sequencing and whole genome sequencing for the detection of copy number variationJayne Y Hehir-Kwa, Rolph Pfundt, Joris A Veltman
The Journal of Investigative Dermatology|January 25, 2003
Transcriptional regulation of the elafin gene in human keratinocytesArno Pol, Rolph Pfundt, Patrick Zeeuwen, et al.
Skin Pharmacology and Applied Skin Physiology|September 10, 2002
A simple technique for high-throughput screening of drugs that modulate normal and psoriasis-like differentiation in cultured human keratinocytesArno Pol, Mieke Bergers, Fred van Ruissen, et al.
International Medical Case Reports Journal|March 23, 2026
Etiological Diagnosis and Disease Course of Birk-Barel Syndrome in an Adult Woman with a <i>KCNK9</i> VariantWillem Verhoeven, Ingrid Spee, Charlotte Wilhelmina Ockeloen, et al.
American Journal of Medical Genetics. Part A|December 15, 2007
Pseudoarthrosis of the clavicle and copper beaten skull associated with chromosome 10p11.21p12.1 microdeletionRaveen Shahdadpuri, Bert de Vries, Rolph Pfundt, et al.
European Journal of Medical Genetics|July 16, 2013
Clinical delineation of a patient with trisomy 12q23q24Arjan Bouman, Anke Schuitema, Rolph Pfundt, et al.
Cold Spring Harbor Molecular Case Studies|October 16, 2021
<i>MED13L</i>-related intellectual disability due to paternal germinal mosaicismBeáta Bessenyei, István Balogh, Attila Mokánszki, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 27, 2019
Accurate detection of clinically relevant uniparental disomy from exome sequencing dataKevin Yauy, Nicole de Leeuw, Helger G Yntema, et al.
Human Genetics|August 12, 2018
Genome-wide investigation of an ID cohort reveals de novo 3'UTR variants affecting gene expressionPaolo Devanna, Maartje van de Vorst, Rolph Pfundt, et al.
Pageof 29

Showing results (1-10 of 284) with videos related to

Sort By:
Pageof 29
Methods in Molecular Biology (Clifton, N.J.)|January 10, 2012
Structural genomic variation in intellectual disabilityRolph Pfundt, Joris A Veltman
Expert Review of Molecular Diagnostics|June 20, 2015
Exome sequencing and whole genome sequencing for the detection of copy number variationJayne Y Hehir-Kwa, Rolph Pfundt, Joris A Veltman
The Journal of Investigative Dermatology|January 25, 2003
Transcriptional regulation of the elafin gene in human keratinocytesArno Pol, Rolph Pfundt, Patrick Zeeuwen, et al.
Skin Pharmacology and Applied Skin Physiology|September 10, 2002
A simple technique for high-throughput screening of drugs that modulate normal and psoriasis-like differentiation in cultured human keratinocytesArno Pol, Mieke Bergers, Fred van Ruissen, et al.
International Medical Case Reports Journal|March 23, 2026
Etiological Diagnosis and Disease Course of Birk-Barel Syndrome in an Adult Woman with a <i>KCNK9</i> VariantWillem Verhoeven, Ingrid Spee, Charlotte Wilhelmina Ockeloen, et al.
American Journal of Medical Genetics. Part A|December 15, 2007
Pseudoarthrosis of the clavicle and copper beaten skull associated with chromosome 10p11.21p12.1 microdeletionRaveen Shahdadpuri, Bert de Vries, Rolph Pfundt, et al.
European Journal of Medical Genetics|July 16, 2013
Clinical delineation of a patient with trisomy 12q23q24Arjan Bouman, Anke Schuitema, Rolph Pfundt, et al.
Cold Spring Harbor Molecular Case Studies|October 16, 2021
<i>MED13L</i>-related intellectual disability due to paternal germinal mosaicismBeáta Bessenyei, István Balogh, Attila Mokánszki, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 27, 2019
Accurate detection of clinically relevant uniparental disomy from exome sequencing dataKevin Yauy, Nicole de Leeuw, Helger G Yntema, et al.
Human Genetics|August 12, 2018
Genome-wide investigation of an ID cohort reveals de novo 3'UTR variants affecting gene expressionPaolo Devanna, Maartje van de Vorst, Rolph Pfundt, et al.
Pageof 29