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Rolph Pfundt

Showing results (21-30 of 285) with videos related to

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Molecular Genetics & Genomic Medicine|July 11, 2019
A novel MBD5 mutation in an intellectually disabled adult female patient with epilepsy: Suggestive of early onset dementia?Willem Verhoeven, Jos Egger, Janneke Kipp, et al.
Clinical Dysmorphology|September 5, 2009
Choanal atresia, syngnathia, brachydactyly, mental retardation and short stature: an X-linked syndrome?Marjolijn C J Jongmans, Rolph Pfundt, Jayne Y Hehir-Kwa, et al.
Human Mutation|February 22, 2022
Clinical exome sequencing-Mistakes and caveatsJordi Corominas, Sanne P Smeekens, Marcel R Nelen, et al.
Human Genetics|July 16, 2024
Automatized detection of uniparental disomies in a large cohortJohanna Moch, Maximilian Radtke, Thomas Liehr, et al.
Clinical Dysmorphology|October 31, 2014
Cerebral visual impairment, autism, and pancreatitis associated with a 9 Mbp deletion on 10p12Daniëlle G M Bosch, Frouke N Boonstra, Rolph Pfundt, et al.
The Journal of Allergy and Clinical Immunology|December 25, 2012
Severe phenotype of severe combined immunodeficiency caused by adenosine deaminase deficiency in a patient with a homozygous mutation due to uniparental disomyJoyce Geelen, Rolph Pfundt, Judith Meijer, et al.
International Medical Case Reports Journal|January 23, 2025
X-Linked Autism Type 9 Caused by a Hemizygote Pathogenic Variant in the <i>TMLHE</i> Gene: Etiological Diagnosis in an Adult Male with Moderate Intellectual DisabilityWillem M A Verhoeven, Rolph Pfundt, Udo F H Engelke, 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.
Cancer Genetics and Cytogenetics|August 17, 2005
Identification of oligodendroglioma specific chromosomal copy number changes in the glioblastoma MI-4 cell line by array-CGH and FISH analysesIvana Magnani, Ramona Frida Moroni, Ramona Frida Ramona, et al.
Case Reports in Genetics|May 7, 2014
A Rare, Recurrent, De Novo 14q32.2q32.31 Microdeletion of 1.1 Mb in a 20-Year-Old Female Patient with a Maternal UPD(14)-Like Phenotype and Intellectual DisabilityAlmira Zada, Farmaditya E P Mundhofir, Rolph Pfundt, et al.
Pageof 29

Showing results (21-30 of 285) with videos related to

Sort By:
Pageof 29
Molecular Genetics & Genomic Medicine|July 11, 2019
A novel MBD5 mutation in an intellectually disabled adult female patient with epilepsy: Suggestive of early onset dementia?Willem Verhoeven, Jos Egger, Janneke Kipp, et al.
Clinical Dysmorphology|September 5, 2009
Choanal atresia, syngnathia, brachydactyly, mental retardation and short stature: an X-linked syndrome?Marjolijn C J Jongmans, Rolph Pfundt, Jayne Y Hehir-Kwa, et al.
Human Mutation|February 22, 2022
Clinical exome sequencing-Mistakes and caveatsJordi Corominas, Sanne P Smeekens, Marcel R Nelen, et al.
Human Genetics|July 16, 2024
Automatized detection of uniparental disomies in a large cohortJohanna Moch, Maximilian Radtke, Thomas Liehr, et al.
Clinical Dysmorphology|October 31, 2014
Cerebral visual impairment, autism, and pancreatitis associated with a 9 Mbp deletion on 10p12Daniëlle G M Bosch, Frouke N Boonstra, Rolph Pfundt, et al.
The Journal of Allergy and Clinical Immunology|December 25, 2012
Severe phenotype of severe combined immunodeficiency caused by adenosine deaminase deficiency in a patient with a homozygous mutation due to uniparental disomyJoyce Geelen, Rolph Pfundt, Judith Meijer, et al.
International Medical Case Reports Journal|January 23, 2025
X-Linked Autism Type 9 Caused by a Hemizygote Pathogenic Variant in the <i>TMLHE</i> Gene: Etiological Diagnosis in an Adult Male with Moderate Intellectual DisabilityWillem M A Verhoeven, Rolph Pfundt, Udo F H Engelke, 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.
Cancer Genetics and Cytogenetics|August 17, 2005
Identification of oligodendroglioma specific chromosomal copy number changes in the glioblastoma MI-4 cell line by array-CGH and FISH analysesIvana Magnani, Ramona Frida Moroni, Ramona Frida Ramona, et al.
Case Reports in Genetics|May 7, 2014
A Rare, Recurrent, De Novo 14q32.2q32.31 Microdeletion of 1.1 Mb in a 20-Year-Old Female Patient with a Maternal UPD(14)-Like Phenotype and Intellectual DisabilityAlmira Zada, Farmaditya E P Mundhofir, Rolph Pfundt, et al.
Pageof 29