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The Journal of Neuropsychiatry and Clinical Neurosciences
|
March 15, 2013
Neuropsychiatric disease in patients with periventricular heterotopia
Andrew E Fry, Michael P Kerr, Frances Gibbon, et al.
Human Heredity
|
October 22, 2008
Assessing genuine parents-offspring trios for genetic association studies
Yik Y Teo, Andrew E Fry, Miguel A Sanjoaquin, et al.
Epilepsy Research
|
January 26, 2018
Childhood-onset generalized epilepsy in Bainbridge-Ropers syndrome
Kenneth A Myers, Susan M White, Shehla Mohammed, et al.
European Journal of Human Genetics : EJHG
|
June 29, 2012
Novel VCAN mutations and evidence for unbalanced alternative splicing in the pathogenesis of Wagner syndrome
Barbara Kloeckener-Gruissem, John Neidhardt, István Magyar, et al.
Clinical Genetics
|
March 15, 2020
A new 1p36.13-1p36.12 microdeletion syndrome characterized by learning disability, behavioral abnormalities, and ptosis
Line Aagaard Nolting, Charlotte Brasch-Andersen, Helen Cox, et al.
European Journal of Human Genetics : EJHG
|
October 14, 2021
Further delineation of the clinical spectrum of White-Sutton syndrome: 12 new individuals and a review of the literature
Oliver Murch, Vani Jain, Andreas Benneche, et al.
Human Genetics
|
November 29, 2008
A genetic association study in the Gambia using tagging polymorphisms in the major histocompatibility complex class III region implicates a HLA-B associated transcript 2 polymorphism in severe malaria susceptibility
Mahamadou Diakite, Taane G Clark, Sarah Auburn, et al.
Human Molecular Genetics
|
May 22, 2024
PSMC5 insufficiency and P320R mutation impair proteasome function
Zhong-Qiu Yu, Jenny Carmichael, Galen A Collins, et al.
European Journal of Medical Genetics
|
June 13, 2020
Focal segmental glomerulosclerosis and mild intellectual disability in a patient with a novel de novo truncating TRIM8 mutation
Martin A McClatchey, Zachary D du Toit, Rhys Vaughan, et al.
Brain : a Journal of Neurology
|
January 31, 2013
Overlapping cortical malformations and mutations in TUBB2B and TUBA1A
Thomas D Cushion, William B Dobyns, Jonathan G L Mullins, et al.
Page
of 6
Search research articles
Search
Showing results (11-20 of 59) with videos related to
Sort By:
Page
of 6
The Journal of Neuropsychiatry and Clinical Neurosciences
|
March 15, 2013
Neuropsychiatric disease in patients with periventricular heterotopia
Andrew E Fry, Michael P Kerr, Frances Gibbon, et al.
Human Heredity
|
October 22, 2008
Assessing genuine parents-offspring trios for genetic association studies
Yik Y Teo, Andrew E Fry, Miguel A Sanjoaquin, et al.
Epilepsy Research
|
January 26, 2018
Childhood-onset generalized epilepsy in Bainbridge-Ropers syndrome
Kenneth A Myers, Susan M White, Shehla Mohammed, et al.
European Journal of Human Genetics : EJHG
|
June 29, 2012
Novel VCAN mutations and evidence for unbalanced alternative splicing in the pathogenesis of Wagner syndrome
Barbara Kloeckener-Gruissem, John Neidhardt, István Magyar, et al.
Clinical Genetics
|
March 15, 2020
A new 1p36.13-1p36.12 microdeletion syndrome characterized by learning disability, behavioral abnormalities, and ptosis
Line Aagaard Nolting, Charlotte Brasch-Andersen, Helen Cox, et al.
European Journal of Human Genetics : EJHG
|
October 14, 2021
Further delineation of the clinical spectrum of White-Sutton syndrome: 12 new individuals and a review of the literature
Oliver Murch, Vani Jain, Andreas Benneche, et al.
Human Genetics
|
November 29, 2008
A genetic association study in the Gambia using tagging polymorphisms in the major histocompatibility complex class III region implicates a HLA-B associated transcript 2 polymorphism in severe malaria susceptibility
Mahamadou Diakite, Taane G Clark, Sarah Auburn, et al.
Human Molecular Genetics
|
May 22, 2024
PSMC5 insufficiency and P320R mutation impair proteasome function
Zhong-Qiu Yu, Jenny Carmichael, Galen A Collins, et al.
European Journal of Medical Genetics
|
June 13, 2020
Focal segmental glomerulosclerosis and mild intellectual disability in a patient with a novel de novo truncating TRIM8 mutation
Martin A McClatchey, Zachary D du Toit, Rhys Vaughan, et al.
Brain : a Journal of Neurology
|
January 31, 2013
Overlapping cortical malformations and mutations in TUBB2B and TUBA1A
Thomas D Cushion, William B Dobyns, Jonathan G L Mullins, et al.
Page
of 6