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R Roeder

Showing results (31-40 of 57) with videos related to

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American Journal of Medical Genetics. Part A|May 17, 2007
Chromosomal microarray analysis (CMA) detects a large X chromosome deletion including FMR1, FMR2, and IDS in a female patient with mental retardationFrank J Probst, Elizabeth R Roeder, Victoria B Enciso, et al.
Elife|August 28, 2015
NUDT21-spanning CNVs lead to neuropsychiatric disease and altered MeCP2 abundance via alternative polyadenylationVincenzo A Gennarino, Callison E Alcott, Chun-An Chen, et al.
Journal of Medical Genetics|September 23, 2022
Recurring germline mosaicism in a family due to reversion of an inherited derivative chromosome 8 from an 8;21 translocation with interstitial telomeric sequencesWeimin Bi, Bo Yuan, Pengfei Liu, et al.
Genome Research|January 6, 2011
Observation and prediction of recurrent human translocations mediated by NAHR between nonhomologous chromosomesZhishuo Ou, Paweł Stankiewicz, Zhilian Xia, et al.
American Journal of Medical Genetics|January 8, 1999
Mosaic trisomy 16 ascertained through amniocentesis: evaluation of 11 new casesW T Hsu, D A Shchepin, R Mao, et al.
Human Molecular Genetics|March 1, 2011
Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplicationsPengfei Liu, Ayelet Erez, Sandesh C Sreenath Nagamani, et al.
Journal of Medical Genetics|November 17, 2009
Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head sizeMarwan Shinawi, Pengfei Liu, Sung-Hae L Kang, et al.
AJNR. American Journal of Neuroradiology|June 30, 2022
Brain Abnormalities in Patients with Germline Variants in <i>H3F3</i>: Novel Imaging Findings and Neurologic Symptoms Beyond Somatic Variants and Brain TumorsC A P F Alves, O Sherbini, F D'Arco, et al.
American Journal of Medical Genetics. Part A|February 8, 2020
De novo heterozygous missense and loss-of-function variants in CDC42BPB are associated with a neurodevelopmental phenotypeIlana Chilton, Volkan Okur, Giuseppina Vitiello, et al.
Brain : a Journal of Neurology|November 26, 2020
Variants in the SK2 channel gene (KCNN2) lead to dominant neurodevelopmental movement disordersFanny Mochel, Agnès Rastetter, Berten Ceulemans, et al.
Pageof 6

Showing results (31-40 of 57) with videos related to

Sort By:
Pageof 6
American Journal of Medical Genetics. Part A|May 17, 2007
Chromosomal microarray analysis (CMA) detects a large X chromosome deletion including FMR1, FMR2, and IDS in a female patient with mental retardationFrank J Probst, Elizabeth R Roeder, Victoria B Enciso, et al.
Elife|August 28, 2015
NUDT21-spanning CNVs lead to neuropsychiatric disease and altered MeCP2 abundance via alternative polyadenylationVincenzo A Gennarino, Callison E Alcott, Chun-An Chen, et al.
Journal of Medical Genetics|September 23, 2022
Recurring germline mosaicism in a family due to reversion of an inherited derivative chromosome 8 from an 8;21 translocation with interstitial telomeric sequencesWeimin Bi, Bo Yuan, Pengfei Liu, et al.
Genome Research|January 6, 2011
Observation and prediction of recurrent human translocations mediated by NAHR between nonhomologous chromosomesZhishuo Ou, Paweł Stankiewicz, Zhilian Xia, et al.
American Journal of Medical Genetics|January 8, 1999
Mosaic trisomy 16 ascertained through amniocentesis: evaluation of 11 new casesW T Hsu, D A Shchepin, R Mao, et al.
Human Molecular Genetics|March 1, 2011
Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplicationsPengfei Liu, Ayelet Erez, Sandesh C Sreenath Nagamani, et al.
Journal of Medical Genetics|November 17, 2009
Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head sizeMarwan Shinawi, Pengfei Liu, Sung-Hae L Kang, et al.
AJNR. American Journal of Neuroradiology|June 30, 2022
Brain Abnormalities in Patients with Germline Variants in <i>H3F3</i>: Novel Imaging Findings and Neurologic Symptoms Beyond Somatic Variants and Brain TumorsC A P F Alves, O Sherbini, F D'Arco, et al.
American Journal of Medical Genetics. Part A|February 8, 2020
De novo heterozygous missense and loss-of-function variants in CDC42BPB are associated with a neurodevelopmental phenotypeIlana Chilton, Volkan Okur, Giuseppina Vitiello, et al.
Brain : a Journal of Neurology|November 26, 2020
Variants in the SK2 channel gene (KCNN2) lead to dominant neurodevelopmental movement disordersFanny Mochel, Agnès Rastetter, Berten Ceulemans, et al.
Pageof 6