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Human Genetics
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August 26, 2003
Skeletal defects in paternal uniparental disomy for chromosome 14 are re-capitulated in the mouse model (paternal uniparental disomy 12)
V Reid Sutton, William H McAlister, Terry K Bertin, et al.
Pediatric Endocrinology Reviews : PER
|
June 28, 2019
Hormones and their Structural and Functional Effects on the Brain: How Can We Change our Practice Moving Forward?
Bonnie McCann-Crosby, Laurel Hyle, David Mann, et al.
Molecular Genetics and Metabolism
|
April 17, 2017
Elucidation of the complex metabolic profile of cerebrospinal fluid using an untargeted biochemical profiling assay
Adam D Kennedy, Kirk L Pappan, Taraka R Donti, et al.
Advances in Pediatrics
|
December 9, 2009
The gender medicine team: "it takes a village"
Marni E Axelrad, Jonathan S Berg, Leslie Ayensu Coker, et al.
Nature Genetics
|
June 5, 2007
Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia
Xiaoling Wang, V Reid Sutton, J Omar Peraza-Llanes, et al.
JBMR Plus
|
October 5, 2018
Whole-Exome Sequencing Identifies an Intronic Cryptic Splice Site in <i>SERPINF1</i> Causing Osteogenesis Imperfecta Type VI
Zixue Jin, Lindsay C Burrage, Ming-Ming Jiang, et al.
Pediatric Endocrinology Reviews : PER
|
July 18, 2015
Androgen Insensitivity Syndrome: Management Considerations from Infancy to Adulthood
Min-Jye Chen, Bach-Mai K Vu, Marni Axelrad, et al.
International Journal of Pediatric Endocrinology
|
April 16, 2014
State of the art review in gonadal dysgenesis: challenges in diagnosis and management
Bonnie McCann-Crosby, Roshanak Mansouri, Jennifer E Dietrich, et al.
American Journal of Medical Genetics. Part A
|
August 3, 2016
SRD5A3-CDG: Expanding the phenotype of a congenital disorder of glycosylation with emphasis on adult onset features
Patricia G Wheeler, Bobby G Ng, Laura Sanford, et al.
American Journal of Medical Genetics. Part A
|
June 15, 2023
A qualitative exploration of patient perspectives on psychosocial burdens and positive factors in adults with osteogenesis imperfecta
W Conor Rork, Alyssa G Hertz, Andrew D Wiese, et al.
Page
of 28
Search research articles
Search
Showing results (171-180 of 276) with videos related to
Sort By:
Page
of 28
Human Genetics
|
August 26, 2003
Skeletal defects in paternal uniparental disomy for chromosome 14 are re-capitulated in the mouse model (paternal uniparental disomy 12)
V Reid Sutton, William H McAlister, Terry K Bertin, et al.
Pediatric Endocrinology Reviews : PER
|
June 28, 2019
Hormones and their Structural and Functional Effects on the Brain: How Can We Change our Practice Moving Forward?
Bonnie McCann-Crosby, Laurel Hyle, David Mann, et al.
Molecular Genetics and Metabolism
|
April 17, 2017
Elucidation of the complex metabolic profile of cerebrospinal fluid using an untargeted biochemical profiling assay
Adam D Kennedy, Kirk L Pappan, Taraka R Donti, et al.
Advances in Pediatrics
|
December 9, 2009
The gender medicine team: "it takes a village"
Marni E Axelrad, Jonathan S Berg, Leslie Ayensu Coker, et al.
Nature Genetics
|
June 5, 2007
Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia
Xiaoling Wang, V Reid Sutton, J Omar Peraza-Llanes, et al.
JBMR Plus
|
October 5, 2018
Whole-Exome Sequencing Identifies an Intronic Cryptic Splice Site in <i>SERPINF1</i> Causing Osteogenesis Imperfecta Type VI
Zixue Jin, Lindsay C Burrage, Ming-Ming Jiang, et al.
Pediatric Endocrinology Reviews : PER
|
July 18, 2015
Androgen Insensitivity Syndrome: Management Considerations from Infancy to Adulthood
Min-Jye Chen, Bach-Mai K Vu, Marni Axelrad, et al.
International Journal of Pediatric Endocrinology
|
April 16, 2014
State of the art review in gonadal dysgenesis: challenges in diagnosis and management
Bonnie McCann-Crosby, Roshanak Mansouri, Jennifer E Dietrich, et al.
American Journal of Medical Genetics. Part A
|
August 3, 2016
SRD5A3-CDG: Expanding the phenotype of a congenital disorder of glycosylation with emphasis on adult onset features
Patricia G Wheeler, Bobby G Ng, Laura Sanford, et al.
American Journal of Medical Genetics. Part A
|
June 15, 2023
A qualitative exploration of patient perspectives on psychosocial burdens and positive factors in adults with osteogenesis imperfecta
W Conor Rork, Alyssa G Hertz, Andrew D Wiese, et al.
Page
of 28