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Genome Biology
|
September 17, 2011
Exome sequencing: the expert view
Leslie G Biesecker, Kevin V Shianna, Jim C Mullikin
G3 (Bethesda, Md.)
|
May 13, 2016
Evaluation of IRX Genes and Conserved Noncoding Elements in a Region on 5p13.3 Linked to Families with Familial Idiopathic Scoliosis and Kyphosis
Cristina M Justice, Kevin Bishop, Blake Carrington, et al.
Journal of Pediatric Gastroenterology and Nutrition
|
November 8, 2017
Characteristics of Liver Disease in 100 Individuals With Joubert Syndrome Prospectively Evaluated at a Single Center
Anna Strongin, Theo Heller, Dan Doherty, et al.
American Journal of Medical Genetics. Part A
|
May 13, 2017
Neuropsychological phenotypes of 76 individuals with Joubert syndrome evaluated at a single center
Angela C Summers, Joseph Snow, Edythe Wiggs, et al.
Journal of Medical Genetics
|
January 15, 2017
Joubert syndrome: neuroimaging findings in 110 patients in correlation with cognitive function and genetic cause
Andrea Poretti, Joseph Snow, Angela C Summers, et al.
Nature Genetics
|
July 19, 2011
NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet α-granules
Meral Gunay-Aygun, Tzipora C Falik-Zaccai, Thierry Vilboux, et al.
Blood
|
August 17, 2010
Gray platelet syndrome: natural history of a large patient cohort and locus assignment to chromosome 3p
Meral Gunay-Aygun, Yifat Zivony-Elboum, Fatma Gumruk, et al.
Page
of 1
Search research articles
Search
Showing results (1-10 of 7) with videos related to
Sort By:
Page
of 1
Genome Biology
|
September 17, 2011
Exome sequencing: the expert view
Leslie G Biesecker, Kevin V Shianna, Jim C Mullikin
G3 (Bethesda, Md.)
|
May 13, 2016
Evaluation of IRX Genes and Conserved Noncoding Elements in a Region on 5p13.3 Linked to Families with Familial Idiopathic Scoliosis and Kyphosis
Cristina M Justice, Kevin Bishop, Blake Carrington, et al.
Journal of Pediatric Gastroenterology and Nutrition
|
November 8, 2017
Characteristics of Liver Disease in 100 Individuals With Joubert Syndrome Prospectively Evaluated at a Single Center
Anna Strongin, Theo Heller, Dan Doherty, et al.
American Journal of Medical Genetics. Part A
|
May 13, 2017
Neuropsychological phenotypes of 76 individuals with Joubert syndrome evaluated at a single center
Angela C Summers, Joseph Snow, Edythe Wiggs, et al.
Journal of Medical Genetics
|
January 15, 2017
Joubert syndrome: neuroimaging findings in 110 patients in correlation with cognitive function and genetic cause
Andrea Poretti, Joseph Snow, Angela C Summers, et al.
Nature Genetics
|
July 19, 2011
NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet α-granules
Meral Gunay-Aygun, Tzipora C Falik-Zaccai, Thierry Vilboux, et al.
Blood
|
August 17, 2010
Gray platelet syndrome: natural history of a large patient cohort and locus assignment to chromosome 3p
Meral Gunay-Aygun, Yifat Zivony-Elboum, Fatma Gumruk, et al.
Page
of 1