Identification of a Novel Locus for Febrile Seizures and Epilepsy on Chromosome 21q22
Hedera, Peter, Ma, Shaochun, Blair, Marcia A., Taylor, Kelly A., Hamati, Aline, Bradford, Yuki, Abou‐Khalil, Bassel, Haines, Jonathan L.
Published in Epilepsia (Copenhagen) (01.10.2006)
Published in Epilepsia (Copenhagen) (01.10.2006)
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Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C
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Published in The journal of clinical endocrinology and metabolism (01.02.2021)
Published in The journal of clinical endocrinology and metabolism (01.02.2021)
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Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity
Bachmann-Gagescu, Ruxandra, Mefford, Heather C., Cowan, Charles, Glew, Gwen M., Hing, Anne V., Wallace, Stephanie, Bader, Patricia I., Hamati, Aline, Reitnauer, Pamela J., Smith, Rosemarie, Stockton, David W., Muhle, Hiltrud, Helbig, Ingo, Eichler, Evan E., Ballif, Blake C., Rosenfeld, Jill, Tsuchiya, Karen D.
Published in Genetics in medicine (01.10.2010)
Published in Genetics in medicine (01.10.2010)
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Journal Article
Original Research: Identification of a Novel Locus for Febrile Seizures and Epilepsy on Chromosome 21q22
Hedera, Peter, Ma, Shaochun, Blair, Marcia A, Taylor, Kelly A, Hamati, Aline, Bradford, Yuki, Abou-Khalil, Bassel, Haines, Jonathan L
Published in Epilepsia (Copenhagen) (01.10.2006)
Published in Epilepsia (Copenhagen) (01.10.2006)
Get full text
Journal Article