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Human Mutation
|
August 27, 2019
Xq22 deletions and correlation with distinct neurological disease traits in females: Further evidence for a contiguous gene syndrome
Hadia Hijazi, Fernanda S Coelho, Claudia Gonzaga-Jauregui, et al.
Annals of Clinical and Translational Neurology
|
January 9, 2020
Genome sequencing in persistently unsolved white matter disorders
Guy Helman, Bryan R Lajoie, Joanna Crawford, et al.
Annals of Clinical and Translational Neurology
|
July 1, 2015
Altered PLP1 splicing causes hypomyelination of early myelinating structures
Sietske H Kevelam, Jennifer R Taube, Rosalina M L van Spaendonk, et al.
American Journal of Human Genetics
|
November 11, 2022
TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletions
Hadia Hijazi, Linda M Reis, Davut Pehlivan, et al.
The Journal of Clinical Endocrinology and Metabolism
|
October 2, 2020
Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C
Félixe Pelletier, Stefanie Perrier, Ferdy K Cayami, et al.
Physical Review Letters
|
March 28, 2015
Joint analysis of BICEP2/keck array and Planck Data
P A R Ade, N Aghanim, Z Ahmed, et al.
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of 18
Search research articles
Search
Showing results (171-180 of 176) with videos related to
Sort By:
Page
of 18
You have reached the last page of results.
This site can display upto 176 results.
Human Mutation
|
August 27, 2019
Xq22 deletions and correlation with distinct neurological disease traits in females: Further evidence for a contiguous gene syndrome
Hadia Hijazi, Fernanda S Coelho, Claudia Gonzaga-Jauregui, et al.
Annals of Clinical and Translational Neurology
|
January 9, 2020
Genome sequencing in persistently unsolved white matter disorders
Guy Helman, Bryan R Lajoie, Joanna Crawford, et al.
Annals of Clinical and Translational Neurology
|
July 1, 2015
Altered PLP1 splicing causes hypomyelination of early myelinating structures
Sietske H Kevelam, Jennifer R Taube, Rosalina M L van Spaendonk, et al.
American Journal of Human Genetics
|
November 11, 2022
TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletions
Hadia Hijazi, Linda M Reis, Davut Pehlivan, et al.
The Journal of Clinical Endocrinology and Metabolism
|
October 2, 2020
Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C
Félixe Pelletier, Stefanie Perrier, Ferdy K Cayami, et al.
Physical Review Letters
|
March 28, 2015
Joint analysis of BICEP2/keck array and Planck Data
P A R Ade, N Aghanim, Z Ahmed, et al.
Page
of 18