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American Journal of Medical Genetics. Part A
|
June 4, 2021
Proximal variants in CCND2 associated with microcephaly, short stature, and developmental delay: A case series and review of inverse brain growth phenotypes
Filomena Pirozzi, Benson Lee, Nicole Horsley, et al.
American Journal of Medical Genetics. Part A
|
August 1, 2018
Characterization of a severe case of PIK3CA-related overgrowth at autopsy by droplet digital polymerase chain reaction and report of PIK3CA sequencing in 22 patients
Andrew M Piacitelli, Dana M Jensen, Heather Brandling-Bennett, et al.
Pediatric Neurology
|
April 16, 2013
CDKL5 and ARX mutations in males with early-onset epilepsy
Ghayda M Mirzaa, Alex R Paciorkowski, Eric D Marsh, et al.
Brain : a Journal of Neurology
|
February 28, 2015
PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia
Laura A Jansen, Ghayda M Mirzaa, Gisele E Ishak, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|
December 4, 2020
Experiences with offering pro bono medical genetics services in the West Indies: Benefits to patients, physicians, and the community
Andrew K Sobering, Dong Li, Jennifer S Beighley, et al.
Plos One
|
December 16, 2014
An integrative computational approach for prioritization of genomic variants
Inna Dubchak, Sandhya Balasubramanian, Sheng Wang, et al.
Developmental Cell
|
November 19, 2019
Mutations in ANKLE2, a ZIKA Virus Target, Disrupt an Asymmetric Cell Division Pathway in Drosophila Neuroblasts to Cause Microcephaly
Nichole Link, Hyunglok Chung, Angad Jolly, et al.
American Journal of Medical Genetics. Part A
|
November 18, 2020
The spectrum of brain malformations and disruptions in twins
Kaylee B Park, Teresa Chapman, Kimberly A Aldinger, et al.
Brain : a Journal of Neurology
|
September 11, 2019
De novo variants in PAK1 lead to intellectual disability with macrocephaly and seizures
Susanne Horn, Margaret Au, Lina Basel-Salmon, et al.
Brain : a Journal of Neurology
|
March 31, 2022
Profiling PI3K-AKT-MTOR variants in focal brain malformations reveals new insights for diagnostic care
Filomena Pirozzi, Matthew Berkseth, Rylee Shear, et al.
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of 8
Search research articles
Search
Showing results (31-40 of 76) with videos related to
Sort By:
Page
of 8
American Journal of Medical Genetics. Part A
|
June 4, 2021
Proximal variants in CCND2 associated with microcephaly, short stature, and developmental delay: A case series and review of inverse brain growth phenotypes
Filomena Pirozzi, Benson Lee, Nicole Horsley, et al.
American Journal of Medical Genetics. Part A
|
August 1, 2018
Characterization of a severe case of PIK3CA-related overgrowth at autopsy by droplet digital polymerase chain reaction and report of PIK3CA sequencing in 22 patients
Andrew M Piacitelli, Dana M Jensen, Heather Brandling-Bennett, et al.
Pediatric Neurology
|
April 16, 2013
CDKL5 and ARX mutations in males with early-onset epilepsy
Ghayda M Mirzaa, Alex R Paciorkowski, Eric D Marsh, et al.
Brain : a Journal of Neurology
|
February 28, 2015
PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia
Laura A Jansen, Ghayda M Mirzaa, Gisele E Ishak, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|
December 4, 2020
Experiences with offering pro bono medical genetics services in the West Indies: Benefits to patients, physicians, and the community
Andrew K Sobering, Dong Li, Jennifer S Beighley, et al.
Plos One
|
December 16, 2014
An integrative computational approach for prioritization of genomic variants
Inna Dubchak, Sandhya Balasubramanian, Sheng Wang, et al.
Developmental Cell
|
November 19, 2019
Mutations in ANKLE2, a ZIKA Virus Target, Disrupt an Asymmetric Cell Division Pathway in Drosophila Neuroblasts to Cause Microcephaly
Nichole Link, Hyunglok Chung, Angad Jolly, et al.
American Journal of Medical Genetics. Part A
|
November 18, 2020
The spectrum of brain malformations and disruptions in twins
Kaylee B Park, Teresa Chapman, Kimberly A Aldinger, et al.
Brain : a Journal of Neurology
|
September 11, 2019
De novo variants in PAK1 lead to intellectual disability with macrocephaly and seizures
Susanne Horn, Margaret Au, Lina Basel-Salmon, et al.
Brain : a Journal of Neurology
|
March 31, 2022
Profiling PI3K-AKT-MTOR variants in focal brain malformations reveals new insights for diagnostic care
Filomena Pirozzi, Matthew Berkseth, Rylee Shear, et al.
Page
of 8