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Rolph Pfundt

Showing results (41-50 of 285) with videos related to

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American Journal of Medical Genetics. Part A|October 20, 2017
Biallelicframeshift mutation in RIN2 in a patient with intellectual disability and cataract, without RIN2 syndromeClaudia J M van Amen-Hellebrekers, Sandra Jansen, Alexander P A Stegmann, et al.
Prenatal Diagnosis|April 3, 2012
Non-targeted whole genome 250K SNP array analysis as replacement for karyotyping in fetuses with structural ultrasound anomalies: evaluation of a one-year experienceBrigitte H W Faas, Ilse Feenstra, Alex J Eggink, et al.
American Journal of Human Genetics|December 23, 2022
De novo mutation hotspots in homologous protein domains identify function-altering mutations in neurodevelopmental disordersLaurens Wiel, Juliet E Hampstead, Hanka Venselaar, et al.
Human Genomics|May 3, 2023
Twist exome capture allows for lower average sequence coverage in clinical exome sequencingBurcu Yaldiz, Erdi Kucuk, Juliet Hampstead, et al.
American Journal of Human Genetics|September 5, 2017
Spatial Clustering of de Novo Missense Mutations Identifies Candidate Neurodevelopmental Disorder-Associated GenesStefan H Lelieveld, Laurens Wiel, Hanka Venselaar, et al.
The Journal of Clinical Endocrinology and Metabolism|October 7, 2016
ACAN Gene Mutations in Short Children Born SGA and Response to Growth Hormone TreatmentManouk van der Steen, Rolph Pfundt, Stephan J W H Maas, et al.
American Journal of Medical Genetics. Part A|March 18, 2009
Xq13.2q21.1 duplication encompassing the ATRX gene in a man with mental retardation, minor facial and genital anomalies, short stature and broad thoraxDorien Lugtenberg, Arjan P M de Brouwer, Astrid R Oudakker, et al.
Journal of Medical Genetics|October 5, 2011
De novo copy number variants associated with intellectual disability have a paternal origin and age biasJayne Y Hehir-Kwa, Benjamín Rodríguez-Santiago, Lisenka E Vissers, et al.
Parkinsonism & Related Disorders|October 21, 2021
Quadrupedal gait and cerebellar hypoplasia, the Uner Tan syndrome, caused by ITPR1 gene mutationIvana Rocha Raslan, Marcondes Cavalcante França, João Bosco Oliveira, et al.
Neuropsychiatric Disease and Treatment|August 1, 2012
Copy number variants in a sample of patients with psychotic disorders: is standard screening relevant for actual clinical practice?Noortje Wa Van de Kerkhof, Ilse Feenstra, Frank Mma van der Heijden, et al.
Pageof 29

Showing results (41-50 of 285) with videos related to

Sort By:
Pageof 29
American Journal of Medical Genetics. Part A|October 20, 2017
Biallelicframeshift mutation in RIN2 in a patient with intellectual disability and cataract, without RIN2 syndromeClaudia J M van Amen-Hellebrekers, Sandra Jansen, Alexander P A Stegmann, et al.
Prenatal Diagnosis|April 3, 2012
Non-targeted whole genome 250K SNP array analysis as replacement for karyotyping in fetuses with structural ultrasound anomalies: evaluation of a one-year experienceBrigitte H W Faas, Ilse Feenstra, Alex J Eggink, et al.
American Journal of Human Genetics|December 23, 2022
De novo mutation hotspots in homologous protein domains identify function-altering mutations in neurodevelopmental disordersLaurens Wiel, Juliet E Hampstead, Hanka Venselaar, et al.
Human Genomics|May 3, 2023
Twist exome capture allows for lower average sequence coverage in clinical exome sequencingBurcu Yaldiz, Erdi Kucuk, Juliet Hampstead, et al.
American Journal of Human Genetics|September 5, 2017
Spatial Clustering of de Novo Missense Mutations Identifies Candidate Neurodevelopmental Disorder-Associated GenesStefan H Lelieveld, Laurens Wiel, Hanka Venselaar, et al.
The Journal of Clinical Endocrinology and Metabolism|October 7, 2016
ACAN Gene Mutations in Short Children Born SGA and Response to Growth Hormone TreatmentManouk van der Steen, Rolph Pfundt, Stephan J W H Maas, et al.
American Journal of Medical Genetics. Part A|March 18, 2009
Xq13.2q21.1 duplication encompassing the ATRX gene in a man with mental retardation, minor facial and genital anomalies, short stature and broad thoraxDorien Lugtenberg, Arjan P M de Brouwer, Astrid R Oudakker, et al.
Journal of Medical Genetics|October 5, 2011
De novo copy number variants associated with intellectual disability have a paternal origin and age biasJayne Y Hehir-Kwa, Benjamín Rodríguez-Santiago, Lisenka E Vissers, et al.
Parkinsonism & Related Disorders|October 21, 2021
Quadrupedal gait and cerebellar hypoplasia, the Uner Tan syndrome, caused by ITPR1 gene mutationIvana Rocha Raslan, Marcondes Cavalcante França, João Bosco Oliveira, et al.
Neuropsychiatric Disease and Treatment|August 1, 2012
Copy number variants in a sample of patients with psychotic disorders: is standard screening relevant for actual clinical practice?Noortje Wa Van de Kerkhof, Ilse Feenstra, Frank Mma van der Heijden, et al.
Pageof 29