Risultati della ricerca - Pfundt, Rolph

Accurate detection of clinically relevant uniparental disomy from exome sequencing data di Yauy, Kevin, de Leeuw, Nicole, Yntema, Helger G., Pfundt, Rolph, Gilissen, Christian

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MED13L-related intellectual disability due to paternal germinal mosaicism di Bessenyei, Beáta, Balogh, István, Mokánszki, Attila, Ujfalusi, Anikó, Pfundt, Rolph, Szakszon, Katalin

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Genome-wide investigation of an ID cohort reveals de novo 3′UTR variants affecting gene expression di Devanna, Paolo, van de Vorst, Maartje, Pfundt, Rolph, Gilissen, Christian, Vernes, Sonja C.

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Phenotypic characterization of an older adult male with late-onset epilepsy and a novel mutation in ASXL3 shows overlap with the associated Bainbridge-Ropers syndrome di Verhoeven, Willem, Egger, Jos, Räkers, Emmy, van Erkelens, Arjen, Pfundt, Rolph, Willemsen, Marjolein H

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Reduced purifying selection prevails over positive selection in human copy number variant evolution di Nguyen, Duc-Quang, Webber, Caleb, Hehir-Kwa, Jayne, Pfundt, Rolph, Veltman, Joris, Ponting, Chris P.

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A novel mutation in L1CAM causes a mild form of L1 syndrome: a case report di Otter, Maarten, Wevers, Marijke, Pisters, Marline, Pfundt, Rolph, Vos, Yvonne, Nievelstein, Rutger Jan, Stumpel, Constance

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Somatic reversion events point towards RPL4 as a novel disease gene in a condition resembling Diamond-Blackfan anemia di Jongmans, Marjolijn C. J., Diets, Illja J., Quarello, Paola, Garelli, Emanuela, Kuiper, Roland P., Pfundt, Rolph

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A novel MBD5 mutation in an intellectually disabled adult female patient with epilepsy: Suggestive of early onset dementia? di Verhoeven, Willem, Egger, Jos, Kipp, Janneke, Verheul‐ aan de Wiel, Jiska, Ockeloen, Charlotte, Kleefstra, Tjitske, Pfundt, Rolph

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A de novo microdeletion in NRXN1 in a Dutch patient with mild intellectual disability, microcephaly and gonadal dysgenesis di AGHA, ZEHRA, IQBAL, ZAFAR, KLEEFSTRA, TJITSKE, ZWEIER, CHRISTIANE, PFUNDT, ROLPH, QAMAR, RAHEEL, VAN BOKHOVEN, HANS, WILLEMSEN, MARJOLEIN H.

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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 Disability di Zada, Almira, Mundhofir, Farmaditya E. P., Pfundt, Rolph, Leijsten, Nico, Nillesen, Willy, Faradz, Sultana M. H., de Leeuw, Nicole

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A Patient with Moderate Intellectual Disability and 49, XXXYY Karyotype di Verhoeven, Willem M A, Egger, Jos I M, Mergler, Sandra, Meijer, Ton A A, Pfundt, Rolph, Willemsen, Marjolein H

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The clustering of functionally related genes contributes to CNV-mediated disease di Andrews, Tallulah, Honti, Frantisek, Pfundt, Rolph, de Leeuw, Nicole, Hehir-Kwa, Jayne, Vulto-van Silfhout, Anneke, de Vries, Bert, Webber, Caleb

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Spatial Clustering of de Novo Missense Mutations Identifies Candidate Neurodevelopmental Disorder-Associated Genes di Lelieveld, Stefan H., Wiel, Laurens, Venselaar, Hanka, Pfundt, Rolph, Vriend, Gerrit, Veltman, Joris A., Brunner, Han G., Vissers, Lisenka E.L.M., Gilissen, Christian

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Copy number variants in a sample of patients with psychotic disorders: is standard screening relevant for actual clinical practice? di Van de Kerkhof, Noortje WA, Feenstra, Ilse, van der Heijden, Frank MMA, de Leeuw, Nicole, Pfundt, Rolph, Stöber, Gerald, Egger, Jos IM, Verhoeven, Willem MA

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Diagnostic yield of patients with undiagnosed intellectual disability, global developmental delay and multiples congenital anomalies using karyotype, microarray analysis, whole exo... di Leite, Ana Julia da Cunha, Pinto, Irene Plaza, Leijsten, Nico, Ruiterkamp-Versteeg, Martina, Pfundt, Rolph, de Leeuw, Nicole, da Cruz, Aparecido Divino, Minasi, Lysa Bernardes

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Accurate Distinction of Pathogenic from Benign CNVs in Mental Retardation di Hehir-Kwa, Jayne Y., Wieskamp, Nienke, Webber, Caleb, Pfundt, Rolph, Brunner, Han G., Gilissen, Christian, de Vries, Bert B. A., Ponting, Chris P., Veltman, Joris A.

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Novel NCC mutants and functional analysis in a new cohort of patients with Gitelman syndrome di Glaudemans, Bob, Yntema, Helger G, San-Cristobal, Pedro, Schoots, Jeroen, Pfundt, Rolph, Kamsteeg, Erik-J, Bindels, René J, Knoers, Nine VAM, Hoenderop, Joost G, Hoefsloot, Lies H

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Gene Networks Underlying Convergent and Pleiotropic Phenotypes in a Large and Systematically-Phenotyped Cohort with Heterogeneous Developmental Disorders di Andrews, Tallulah, Meader, Stephen, Vulto-van Silfhout, Anneke, Taylor, Avigail, Steinberg, Julia, Hehir-Kwa, Jayne, Pfundt, Rolph, de Leeuw, Nicole, de Vries, Bert B. A., Webber, Caleb

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A de novo CTNNB1 Novel Splice Variant in an Adult Female with Severe Intellectual Disability di Verhoeven, Willem M A, Egger, Jos I M, Jongbloed, Rob E, van Putten, Marloes Meijer, de Bruin-van Zandwijk, Marieke, Zwemer, Anne-Suus, Pfundt, Rolph, Willemsen, Marjolein H

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Targeted Next-Generation Sequencing Appoints C16orf57 as Clericuzio-Type Poikiloderma with Neutropenia Gene di Volpi, Ludovica, Roversi, Gaia, Colombo, Elisa Adele, Leijsten, Nico, Concolino, Daniela, Calabria, Andrea, Mencarelli, Maria Antonietta, Fimiani, Michele, Macciardi, Fabio, Pfundt, Rolph, Schoenmakers, Eric F.P.M., Larizza, Lidia

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